ONTOLOGY REPORT - ANNOTATIONS
Term: monoatomic cation homeostasis
Accession: GO:0055080
browse the term
Definition: Any process involved in the maintenance of an internal steady state of monoatomic cations within an organism or cell. Monatomic cations (also called simple cations) are cations consisting of exactly one atom.
Synonyms: broad_synonym: cation homeostasis
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HAMP
hepcidin antimicrobial peptide
involved_in
IEA
UniProt
GO_REF:0000117
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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TRPM7
transient receptor potential cation channel subfamily M member 7
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
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UNC80
unc-80 homolog, NALCN channel complex subunit
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300
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WNK1
WNK lysine deficient protein kinase 1
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452
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GHITM
growth hormone inducible transmembrane protein
involved_in
IMP IBA
(PMID:35912435)
UniProt GO_Central
PMID:35912435
GO_REF:0000033
NCBI chr10:84,139,509...84,153,568
Ensembl chr10:84,139,482...84,154,841
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LETM1
leucine zipper and EF-hand containing transmembrane protein 1
involved_in
IEA IMP IDA
(PMID:32139798) (PMID:19797662)
Ensembl UniProt
PMID:19797662 PMID:32139798
GO_REF:0000107
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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SLC8B1
solute carrier family 8 member B1
involved_in
IDA IBA IEA
(PMID:24898248)
UniProt GO_Central Ensembl
PMID:24898248
GO_REF:0000033 GO_REF:0000107
NCBI chr12:113,298,771...113,335,109
Ensembl chr12:113,298,759...113,359,493
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ABCC6
ATP binding cassette subfamily C member 6
involved_in
IDA IEA
(PMID:28592560)
MGI Ensembl
PMID:28592560
GO_REF:0000107
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ALPL
alkaline phosphatase, biomineralization associated
involved_in
IEA IDA
(PMID:28592560)
Ensembl MGI
PMID:28592560
GO_REF:0000107
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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ANKH
ANKH inorganic pyrophosphate transport regulator
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
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ASPH
aspartate beta-hydroxylase
involved_in
IDA
(PMID:15302852)
UniProt
PMID:15302852
NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
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ATP6V1B1
ATPase H+ transporting V1 subunit B1
involved_in
IMP
(PMID:20622307)
UniProt
PMID:20622307
NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
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CALB1
calbindin 1
involved_in
IEA
InterPro
GO_REF:0000002
NCBI chr 8:90,058,608...90,082,879
Ensembl chr 8:90,058,608...90,095,475
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CAV1
caveolin 1
involved_in acts_upstream_of_or_within
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCDC47
coiled-coil domain containing 47
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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CIB2
calcium and integrin binding family member 2
involved_in
ISS IBA IEA
UniProt GO_Central Ensembl
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
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CIB3
calcium and integrin binding family member 3
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr19:16,161,368...16,173,525
Ensembl chr19:16,161,368...16,173,525
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CST5
cystatin D
involved_in
ISO
(PMID:16680148)
MGI
PMID:16680148
NCBI chr20:23,875,934...23,879,748
Ensembl chr20:23,875,934...23,879,748
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CYP27B1
cytochrome P450 family 27 subfamily B member 1
involved_in
IMP
(PMID:9415400)
BHF-UCL
PMID:9415400
NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
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ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
involved_in
ISO
(PMID:24732453) (PMID:12817751) (PMID:23798568), (PMID:26624227), (PMID:26763447), (PMID:28402956), (PMID:28592560) (PMID:22927960) (PMID:21490328), (PMID:25260930) (PMID:28592560) (PMID:24770645) (PMID:22359666), (PMID:22927960), (PMID:23717624), (PMID:28701330) (PMID:28704395)
MGI
PMID:12817751 PMID:21490328 PMID:22359666 PMID:22927960 PMID:23717624 PMID:23798568 PMID:24732453 PMID:24770645 PMID:25260930 PMID:26624227 PMID:26763447 PMID:28402956 PMID:28592560 PMID:28701330 PMID:28704395 More...
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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FAM20A
FAM20A golgi associated secretory pathway pseudokinase
involved_in
IMP
(PMID:23434854)
UniProt
PMID:23434854
NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367
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FAM3A
FAM3 metabolism regulating signaling molecule A
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr X:154,506,171...154,516,232
Ensembl chr X:154,506,159...154,516,242
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FGF23
fibroblast growth factor 23
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
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FGFR1
fibroblast growth factor receptor 1
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR3
fibroblast growth factor receptor 3
involved_in
ISO
(PMID:23523568)
MGI
PMID:23523568
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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GRIN1
glutamate ionotropic receptor NMDA type subunit 1
involved_in acts_upstream_of_or_within
ISS ISO
(PMID:7907365)
UniProt MGI
PMID:7907365
GO_REF:0000024
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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HRC
histidine rich calcium binding protein
acts_upstream_of_or_within
ISO
(PMID:16600288)
MGI
PMID:16600288
NCBI chr19:49,151,198...49,155,396
Ensembl chr19:49,151,198...49,155,396
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ITPR3
inositol 1,4,5-trisphosphate receptor type 3
involved_in
IMP
(PMID:32949214)
UniProt
PMID:32949214
NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574
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JPH2
junctophilin 2
involved_in
IDA
(PMID:20095964)
UniProt
PMID:20095964
NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188
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KDR
kinase insert domain receptor
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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KL
klotho
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
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LCN6
lipocalin 6
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 9:136,744,017...136,748,525
Ensembl chr 9:136,744,017...136,748,525
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NT5E
5'-nucleotidase ecto
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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PSEN1
presenilin 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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PSEN2
presenilin 2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
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PTH
parathyroid hormone
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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S100A14
S100 calcium binding protein A14
involved_in
NAS
(PMID:16682778)
UniProt
PMID:16682778
NCBI chr 1:153,614,255...153,616,325
Ensembl chr 1:153,614,255...153,616,986
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SELENON
selenoprotein N
involved_in
IMP IBA
(PMID:19557870)
UniProt GO_Central
PMID:19557870
GO_REF:0000033
NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
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SGCD
sarcoglycan delta
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788
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SLC24A4
solute carrier family 24 member 4
involved_in
ISS IEA
ARUK-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481
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SLC34A1
solute carrier family 34 member 1
involved_in
ISO
(PMID:28704395)
MGI
PMID:28704395
NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
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SLC8A1
solute carrier family 8 member A1
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
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SNCA
synuclein alpha
NOT|involved_in
IDA
(PMID:12239163)
UniProt
PMID:12239163
NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
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SNX10
sorting nexin 10
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
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SPP1
secreted phosphoprotein 1
involved_in
ISO
(PMID:12817751)
MGI
PMID:12817751
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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STC2
stanniocalcin 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 5:173,314,723...173,328,414
Ensembl chr 5:173,314,723...173,328,447
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TMTC2
transmembrane O-mannosyltransferase targeting cadherins 2
involved_in
IMP
(PMID:24764305)
UniProt
PMID:24764305
NCBI chr12:82,686,906...83,134,866
Ensembl chr12:82,686,880...83,134,870
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TNFSF11
TNF superfamily member 11
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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TRIM24
tripartite motif containing 24
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:138,460,259...138,589,996
Ensembl chr 7:138,460,259...138,589,996
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TRPV5
transient receptor potential cation channel subfamily V member 5
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 7:142,908,101...142,933,746
Ensembl chr 7:142,908,101...142,933,746
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TRPV6
transient receptor potential cation channel subfamily V member 6
involved_in acts_upstream_of_or_within
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745
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UMOD
uromodulin
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
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WFS1
wolframin ER transmembrane glycoprotein
involved_in
IEA IBA IDA
(PMID:14527944)
InterPro GO_Central BHF-UCL
PMID:14527944
GO_REF:0000002 GO_REF:0000033
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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WNK4
WNK lysine deficient protein kinase 4
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr17:42,780,610...42,797,066
Ensembl chr17:42,780,610...42,797,066
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ZNHIT1
zinc finger HIT-type containing 1
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 7:101,218,165...101,224,190
Ensembl chr 7:101,218,165...101,224,190
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HFE
homeostatic iron regulator
ISO
RGD
PMID:16208485
RGD:1582698
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
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COMMD1
copper metabolism domain containing 1
involved_in
IDA IBA IEA
(PMID:14685266)
UniProt GO_Central InterPro
PMID:14685266
GO_REF:0000002 GO_REF:0000033
NCBI chr 2:61,888,391...62,136,058
Ensembl chr 2:61,888,724...62,147,247
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COX10
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr17:14,069,504...14,208,677
Ensembl chr17:14,069,490...14,231,736
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CUTC
cutC copper transporter
involved_in
NAS
(PMID:16182249)
UniProt
PMID:16182249
NCBI chr10:99,732,234...99,756,134
Ensembl chr10:99,702,558...99,756,134
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SCO1
synthesis of cytochrome C oxidase 1
acts_upstream_of_or_within
ISO
(PMID:36301669)
MGI
PMID:36301669
NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375
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SCO2
synthesis of cytochrome C oxidase 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
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XIAP
X-linked inhibitor of apoptosis
involved_in
TAS
(PMID:17382285)
UniProt
PMID:17382285
NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972
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TFR2
transferrin receptor 2
involved_in
IGI IBA
(PMID:18353247)
BHF-UCL GO_Central
PMID:18353247
GO_REF:0000033
NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779
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AC046185.1
novel transcript
involved_in
IEA
InterPro
GO_REF:0000002
Ensembl chr17:63,702,845...63,752,097
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ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
involved_in
IDA
(PMID:10587333), (PMID:16402920)
BHF-UCL
PMID:10587333 PMID:16402920
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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ATP2A3
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
ISO
RGD
PMID:11956212
RGD:631751
NCBI chr17:3,923,873...3,964,437
Ensembl chr17:3,923,868...3,964,464
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BAK1
BCL2 antagonist/killer 1
involved_in
TAS
(PMID:18309324)
UniProt
PMID:18309324
NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293
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BAX
BCL2 associated X, apoptosis regulator
involved_in
TAS
(PMID:18309324)
UniProt
PMID:18309324
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BCL2
BCL2 apoptosis regulator
involved_in acts_upstream_of_or_within
TAS IEA
(PMID:18309324)
UniProt Ensembl
PMID:18309324
GO_REF:0000107
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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CAMK2D
calcium/calmodulin dependent protein kinase II delta
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
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CCDC47
coiled-coil domain containing 47
involved_in
IEA IMP
(PMID:30401460)
InterPro UniProt
PMID:30401460
GO_REF:0000002
NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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CLCC1
chloride channel CLIC like 1
involved_in
IMP
(PMID:37142673)
UniProt
PMID:37142673
NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527
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GRINA
glutamate ionotropic receptor NMDA type subunit associated protein 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 8:143,990,056...143,993,415
Ensembl chr 8:143,990,056...143,993,415
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HERPUD1
homocysteine inducible ER protein with ubiquitin like domain 1
involved_in
IDA IBA
(PMID:15102845), (PMID:22045699)
ParkinsonsUK-UCL GO_Central
PMID:15102845 PMID:22045699
GO_REF:0000033
NCBI chr16:56,932,142...56,944,864
Ensembl chr16:56,932,142...56,944,864
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
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KCNK16
potassium two pore domain channel subfamily K member 16
involved_in
IMP
(PMID:28928238)
UniProt
PMID:28928238
NCBI chr 6:39,314,570...39,322,968
Ensembl chr 6:39,314,698...39,322,968
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KCTD17
potassium channel tetramerization domain containing 17
involved_in
IMP
(PMID:25983243)
UniProt
PMID:25983243
NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390
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PACS2
phosphofurin acidic cluster sorting protein 2
involved_in
IMP
(PMID:15692567)
CACAO
PMID:15692567
NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147
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PML
PML nuclear body scaffold
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
G
PSEN1
presenilin 1
involved_in acts_upstream_of_or_within
IMP IEA IDA IGI
(PMID:25394380) (PMID:17431506) (PMID:16959576)
UniProt Ensembl MGI
PMID:16959576 PMID:17431506 PMID:25394380
GO_REF:0000107
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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PSEN2
presenilin 2
acts_upstream_of_or_within
ISO
(PMID:12460542)
MGI
PMID:12460542
NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
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SELENOK
selenoprotein K
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 3:53,884,417...53,891,859
Ensembl chr 3:53,884,417...53,891,885
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TMBIM6
transmembrane BAX inhibitor motif containing 6
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr12:49,741,557...49,764,934
Ensembl chr12:49,707,725...49,764,934
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TMCO1
transmembrane and coiled-coil domains 1
involved_in
IDA IEA IBA
(PMID:27212239)
UniProt Ensembl GO_Central InterPro
PMID:27212239
GO_REF:0000002 GO_REF:0000033 GO_REF:0000104 GO_REF:0000107
NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
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TUNAR
transmembrane neural differentiation associated intracellular calcium regulator
involved_in
IDA
(PMID:34513312)
UniProt
PMID:34513312
NCBI chr14:95,876,448...95,925,571
Ensembl chr14:95,866,587...95,925,663
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WFS1
wolframin ER transmembrane glycoprotein
involved_in
IDA
(PMID:16989814)
BHF-UCL
PMID:16989814
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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AQP11
aquaporin 11
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:77,589,953...77,610,356
Ensembl chr11:77,589,391...77,610,356
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ATP6AP1
ATPase H+ transporting accessory protein 1
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
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ATP6AP2
ATPase H+ transporting accessory protein 2
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
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ATP6V0A1
ATPase H+ transporting V0 subunit a1
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582
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ATP6V0B
ATPase H+ transporting V0 subunit b
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 1:43,974,960...43,978,295
Ensembl chr 1:43,974,487...43,978,295
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ATP6V0C
ATPase H+ transporting V0 subunit c
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
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ATP6V1A
ATPase H+ transporting V1 subunit A
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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ATP6V1D
ATPase H+ transporting V1 subunit D
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr14:67,337,872...67,359,804
Ensembl chr14:67,294,371...67,360,265
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ATP6V1F
ATPase H+ transporting V1 subunit F
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 7:128,862,856...128,865,847
Ensembl chr 7:128,862,856...128,865,847
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ATP6V1H
ATPase H+ transporting V1 subunit H
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 8:53,715,543...53,843,245
Ensembl chr 8:53,715,543...53,843,558
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CLCN3
chloride voltage-gated channel 3
involved_in
TAS
(PMID:12471024)
UniProt
PMID:12471024
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
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FASLG
Fas ligand
involved_in
ISO IEA
RGD Ensembl
PMID:18045865
GO_REF:0000107 RGD:2315735
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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RNASEK
ribonuclease K
involved_in
IPI NAS
(PMID:26212330) (PMID:32001091)
UniProt ComplexPortal
PMID:26212330 PMID:32001091
NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532
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TMEM9
transmembrane protein 9
involved_in
IDA
(PMID:30374053)
UniProt
PMID:30374053
NCBI chr 1:201,134,772...201,171,558
Ensembl chr 1:201,134,772...201,171,574
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ATP2C1
ATPase secretory pathway Ca2+ transporting 1
involved_in
IMP IEA ISS
(PMID:14632183), (PMID:20439740)
UniProt Ensembl
PMID:14632183 PMID:20439740
GO_REF:0000024 GO_REF:0000107
NCBI chr 3:130,850,595...131,016,712
Ensembl chr 3:130,850,595...131,016,712
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TMEM165
transmembrane protein 165
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397
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ATP6AP1
ATPase H+ transporting accessory protein 1
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
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ATP6AP2
ATPase H+ transporting accessory protein 2
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
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ATP6V0A2
ATPase H+ transporting V0 subunit a2
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
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ATP6V0B
ATPase H+ transporting V0 subunit b
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 1:43,974,960...43,978,295
Ensembl chr 1:43,974,487...43,978,295
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ATP6V0C
ATPase H+ transporting V0 subunit c
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
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ATP6V1A
ATPase H+ transporting V1 subunit A
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
G
ATP6V1D
ATPase H+ transporting V1 subunit D
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr14:67,337,872...67,359,804
Ensembl chr14:67,294,371...67,360,265
G
ATP6V1F
ATPase H+ transporting V1 subunit F
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 7:128,862,856...128,865,847
Ensembl chr 7:128,862,856...128,865,847
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ATP6V1H
ATPase H+ transporting V1 subunit H
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 8:53,715,543...53,843,245
Ensembl chr 8:53,715,543...53,843,558
G
RNASEK
ribonuclease K
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532
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ANK2
ankyrin 2
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
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ANXA7
annexin A7
acts_upstream_of_or_within
ISO
(PMID:14644162)
MGI
PMID:14644162
NCBI chr10:73,375,101...73,414,058
Ensembl chr10:73,375,101...73,414,076
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APOE
apolipoprotein E
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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ATF4
activating transcription factor 4
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr22:39,520,559...39,522,686
Ensembl chr22:39,519,695...39,522,686
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ATP13A1
ATPase 13A1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr19:19,645,198...19,663,676
Ensembl chr19:19,645,198...19,663,676
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ATP13A2
ATPase cation transporting 13A2
involved_in
IDA IBA
(PMID:22186024)
ParkinsonsUK-UCL GO_Central
PMID:22186024
GO_REF:0000033
NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
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ATP13A3
ATPase 13A3
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 3:194,402,677...194,494,334
Ensembl chr 3:194,402,672...194,498,364
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ATP13A4
ATPase 13A4
involved_in acts_upstream_of_or_within
IBA ISO
(PMID:19731010)
GO_Central MGI
PMID:19731010
GO_REF:0000033
NCBI chr 3:193,398,967...193,593,119
Ensembl chr 3:193,398,967...193,593,111
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ATP13A5
ATPase 13A5
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 3:193,274,789...193,378,753
Ensembl chr 3:193,274,789...193,378,820
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ATP1B1
ATPase Na+/K+ transporting subunit beta 1
involved_in
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992
G
ATP2A1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
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ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
involved_in acts_upstream_of_or_within
IMP IEA IBA IDA
(PMID:18068335) (PMID:10587333)
ARUK-UCL Ensembl GO_Central BHF-UCL
PMID:10587333 PMID:18068335
GO_REF:0000033 GO_REF:0000107
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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ATP2A3
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
involved_in
IMP IBA
(PMID:18068335)
ARUK-UCL GO_Central
PMID:18068335
GO_REF:0000033
NCBI chr17:3,923,873...3,964,437
Ensembl chr17:3,923,868...3,964,464
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ATP2B1
ATPase plasma membrane Ca2+ transporting 1
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr12:89,588,049...89,709,366
Ensembl chr12:89,588,049...89,709,366
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ATP2B2
ATPase plasma membrane Ca2+ transporting 2
acts_upstream_of_or_within
ISO
(PMID:11985881) (PMID:17234811)
MGI
PMID:11985881 PMID:17234811
NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007
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ATP2B4
ATPase plasma membrane Ca2+ transporting 4
involved_in
IEA IDA IC ISS
(PMID:19278978), (PMID:25798335) (PMID:8530416)
Ensembl BHF-UCL UniProt
PMID:8530416 PMID:19278978 PMID:25798335
GO_REF:0000024 GO_REF:0000107
NCBI chr 1:203,626,832...203,744,081
Ensembl chr 1:203,626,832...203,744,081
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ATP2C1
ATPase secretory pathway Ca2+ transporting 1
involved_in
ISO IBA IDA IMP
(PMID:12707275), (PMID:12810057) (PMID:10615129)
RGD GO_Central UniProt
PMID:10615129 PMID:12707275 PMID:12810057 PMID:14747290
GO_REF:0000033 RGD:1581798
NCBI chr 3:130,850,595...131,016,712
Ensembl chr 3:130,850,595...131,016,712
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ATP2C2
ATPase secretory pathway Ca2+ transporting 2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:84,368,538...84,464,187
Ensembl chr16:84,368,527...84,464,187
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BCL2
BCL2 apoptosis regulator
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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C5
complement C5
ISO
RGD
PMID:10532591
RGD:1600657
NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195
G
CACNA1C
calcium voltage-gated channel subunit alpha1 C
acts_upstream_of_or_within
ISO
(PMID:15132976)
MGI
PMID:15132976
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
G
CACNA1F
calcium voltage-gated channel subunit alpha1 F
acts_upstream_of_or_within
ISO
(PMID:16155113)
MGI
PMID:16155113
NCBI chr X:49,205,063...49,233,340
Ensembl chr X:49,205,063...49,233,371
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CALB2
calbindin 2
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr16:71,358,723...71,390,433
Ensembl chr16:71,358,713...71,390,436
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CALCA
calcitonin related polypeptide alpha
acts_upstream_of_or_within
ISO
(PMID:12488435)
MGI
PMID:12488435
NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
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CALCB
calcitonin related polypeptide beta
involved_in
TAS
(PMID:2985435)
PINC
PMID:2985435
NCBI chr11:15,073,593...15,078,637
Ensembl chr11:14,904,997...15,082,342
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CALR
calreticulin
involved_in
TAS
(PMID:11149926)
UniProt
PMID:11149926
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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CARTPT
CART prepropeptide
ISO
RGD
PMID:27338624
RGD:597805937
NCBI chr 5:71,719,275...71,721,045
Ensembl chr 5:71,719,275...71,721,048
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CASQ2
calsequestrin 2
involved_in
IMP
(PMID:16908766)
BHF-UCL
PMID:16908766
NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921
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CASR
calcium sensing receptor
involved_in
ISO IBA IEA TAS IDA
(PMID:7874174) (PMID:27434672)
RGD GO_Central Ensembl PINC UniProt
PMID:7874174 PMID:12065312 PMID:27434672
GO_REF:0000033 GO_REF:0000107 RGD:628315
NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
G
CAV1
caveolin 1
acts_upstream_of_or_within involved_in
ISO IEA ISS
RGD Ensembl BHF-UCL
PMID:17337601
GO_REF:0000024 GO_REF:0000107 RGD:2289122
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCL1
C-C motif chemokine ligand 1
involved_in
TAS
(PMID:9417093)
PINC
PMID:9417093
NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233
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CCL11
C-C motif chemokine ligand 11
involved_in
TAS
(PMID:10415069)
PINC
PMID:10415069
NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
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CCL13
C-C motif chemokine ligand 13
involved_in
TAS
(PMID:9195948)
PINC
PMID:9195948
NCBI chr17:34,356,480...34,358,610
Ensembl chr17:34,356,480...34,358,610
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CCL14
C-C motif chemokine ligand 14
involved_in
TAS
(PMID:8551235)
PINC
PMID:8551235
NCBI chr17:35,983,288...35,986,729
Ensembl chr17:35,983,288...35,987,004
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CCL15
C-C motif chemokine ligand 15
involved_in
TAS
(PMID:9346309)
PINC
PMID:9346309
NCBI chr17:35,997,582...36,001,553
Ensembl chr17:35,996,440...36,001,553
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CCL19
C-C motif chemokine ligand 19
involved_in
TAS
(PMID:9153236)
PINC
PMID:9153236
NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
G
CCL2
C-C motif chemokine ligand 2
ISO
RGD
PMID:15978006
RGD:1625372
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CCL23
C-C motif chemokine ligand 23
involved_in
TAS
(PMID:9886417)
PINC
PMID:9886417
NCBI chr17:36,013,058...36,017,972
Ensembl chr17:36,013,056...36,017,972
G
CCL3
C-C motif chemokine ligand 3
involved_in
IDA
(PMID:10072545), (PMID:10734056), (PMID:21403648)
UniProt
PMID:10072545 PMID:10734056 PMID:21403648
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
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CCL5
C-C motif chemokine ligand 5
involved_in
IDA
(PMID:10734056)
UniProt
PMID:10734056
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
G
CCL7
C-C motif chemokine ligand 7
involved_in
TAS
(PMID:10770925)
PINC
PMID:10770925
NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
G
CCL8
C-C motif chemokine ligand 8
involved_in
IDA
(PMID:10734056)
UniProt
PMID:10734056
NCBI chr17:34,319,435...34,321,402
Ensembl chr17:34,319,435...34,321,402
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CCR1
C-C motif chemokine receptor 1
involved_in
IDA
(PMID:10734056)
UniProt
PMID:10734056
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
G
CCR2
C-C motif chemokine receptor 2
involved_in
ISO ISS
RGD BHF-UCL
PMID:15978006
GO_REF:0000024 RGD:1625372
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CD40
CD40 molecule
involved_in
IEA IMP
(PMID:21410936)
Ensembl BHF-UCL
PMID:21410936
GO_REF:0000107
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CDH5
cadherin 5
involved_in
IDA
(PMID:23159740)
ARUK-UCL
PMID:23159740
NCBI chr16:66,366,691...66,404,784
Ensembl chr16:66,366,690...66,404,784
G
CHERP
calcium homeostasis endoplasmic reticulum protein
acts_upstream_of_or_within involved_in
IDA IBA
(PMID:10794731)
MGI GO_Central
PMID:10794731
GO_REF:0000033
NCBI chr19:16,517,894...16,542,437
Ensembl chr19:16,517,894...16,542,437
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CHRFAM7A
CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion
involved_in
IMP
(PMID:16280133)
UniProt
PMID:16280133
NCBI chr15:30,360,566...30,393,900
Ensembl chr15:30,360,566...30,393,849
G
CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
involved_in
IMP
(PMID:16280133)
UniProt
PMID:16280133
NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
G
CSRP3
cysteine and glycine rich protein 3
involved_in acts_upstream_of_or_within
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571
G
CTRC
chymotrypsin C
acts_upstream_of_or_within
IDA
(PMID:8635596)
MGI
PMID:8635596
NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242
G
CXCL12
C-X-C motif chemokine ligand 12
involved_in
TAS
(PMID:10772939)
PINC
PMID:10772939
NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493
G
DHRS7C
dehydrogenase/reductase 7C
involved_in
IEA IBA ISS
Ensembl GO_Central UniProt
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr17:9,771,438...9,791,592
Ensembl chr17:9,771,434...9,791,592
G
DMPK
DM1 protein kinase
involved_in
ISS IBA IEA
UniProt GO_Central Ensembl
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr19:45,769,717...45,782,490
Ensembl chr19:45,769,709...45,782,552
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DRD2
dopamine receptor D2
involved_in
IDA
(PMID:7921596)
BHF-UCL
PMID:7921596
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
G
DRD3
dopamine receptor D3
involved_in
IDA
(PMID:7911712)
BHF-UCL
PMID:7911712
NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407
G
DRD4
dopamine receptor D4
involved_in
IDA
(PMID:7921596)
BHF-UCL
PMID:7921596
NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706
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DRD5
dopamine receptor D5
involved_in
TAS
(PMID:9457173)
BHF-UCL
PMID:9457173
NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009
G
EDN1
endothelin 1
involved_in
IDA IEA IBA
(PMID:30990108)
MGI Ensembl GO_Central
PMID:30990108
GO_REF:0000033 GO_REF:0000107
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
G
EDN2
endothelin 2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 1:41,478,775...41,484,683
Ensembl chr 1:41,478,775...41,484,683
G
EDN3
endothelin 3
involved_in acts_upstream_of_or_within
IBA IEA
GO_Central Ensembl
GO_REF:0000033 GO_REF:0000107
NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
G
EDNRA
endothelin receptor type A
involved_in
IDA IEA
(PMID:30990108)
MGI Ensembl
PMID:30990108
GO_REF:0000107
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
G
EIF3E
eukaryotic translation initiation factor 3 subunit E
ISO
RGD
PMID:23737983
RGD:10755504
NCBI chr 8:108,201,216...108,248,717
Ensembl chr 8:108,162,787...108,443,496
G
ELANE
elastase, neutrophil expressed
involved_in
NAS
(PMID:15140022)
UniProt
PMID:15140022
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
G
GCM2
glial cells missing transcription factor 2
involved_in
IMP
(PMID:15728199)
UniProt
PMID:15728199
NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
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GPR12
G protein-coupled receptor 12
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr13:26,755,200...26,760,786
Ensembl chr13:26,755,200...26,760,786
G
GRIK2
glutamate ionotropic receptor kainate type subunit 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622
G
GRIN1
glutamate ionotropic receptor NMDA type subunit 1
acts_upstream_of_or_within
ISO
(PMID:8060614)
MGI
PMID:8060614
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
G
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
ISO
RGD
PMID:20168047
RGD:2325881
NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002
G
HERPUD1
homocysteine inducible ER protein with ubiquitin like domain 1
involved_in
ISO IEA
RGD Ensembl
PMID:15102845
GO_REF:0000107 RGD:1304324
NCBI chr16:56,932,142...56,944,864
Ensembl chr16:56,932,142...56,944,864
G
HEXB
hexosaminidase subunit beta
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647
G
HTR2A
5-hydroxytryptamine receptor 2A
involved_in
IDA
(PMID:19057895)
UniProt
PMID:19057895
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
G
HTR2B
5-hydroxytryptamine receptor 2B
involved_in
IDA
(PMID:19057895)
UniProt
PMID:19057895
NCBI chr 2:231,108,230...231,125,042
Ensembl chr 2:231,108,230...231,125,042
G
HTR2C
5-hydroxytryptamine receptor 2C
involved_in
IDA
(PMID:19057895)
UniProt
PMID:19057895
NCBI chr X:114,584,086...114,910,061
Ensembl chr X:114,584,078...114,910,061
G
INPP4B
inositol polyphosphate-4-phosphatase type II B
acts_upstream_of_or_within
ISO
(PMID:21982707)
MGI
PMID:21982707
NCBI chr 4:142,023,160...142,846,535
Ensembl chr 4:142,023,160...142,847,432
G
KEL
Kell metallo-endopeptidase (Kell blood group)
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:142,941,114...142,962,363
Ensembl chr 7:142,941,114...142,962,363
G
NPPC
natriuretic peptide C
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396
G
NPTN
neuroplastin
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr15:73,560,014...73,633,389
Ensembl chr15:73,560,014...73,634,134
G
PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:138,652,698...138,834,928
Ensembl chr 3:138,652,336...138,834,928
G
PKD2
polycystin 2, transient receptor potential cation channel
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777
G
PKHD1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
involved_in
IMP
(PMID:17669261)
UniProt
PMID:17669261
NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
G
PLN
phospholamban
involved_in acts_upstream_of_or_within
IEA ISO ISS
(PMID:10555147)
Ensembl MGI UniProt
PMID:10555147
GO_REF:0000024 GO_REF:0000107
NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
G
PRKCA
protein kinase C alpha
acts_upstream_of_or_within
ISO
(PMID:14966518)
MGI
PMID:14966518
NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743
G
PRKCB
protein kinase C beta
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
G
PSEN1
presenilin 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
G
PTH
parathyroid hormone
involved_in acts_upstream_of_or_within
ISO IEA
RGD Ensembl InterPro
PMID:9832460
GO_REF:0000002 GO_REF:0000107 RGD:1601517
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
G
PTH1R
parathyroid hormone 1 receptor
involved_in acts_upstream_of_or_within
IBA IEA
GO_Central Ensembl
GO_REF:0000033 GO_REF:0000107
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
G
PYGM
glycogen phosphorylase, muscle associated
ISO
RGD
PMID:8810099
RGD:1599992
NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974
G
RGN
regucalcin
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr X:47,078,443...47,093,313
Ensembl chr X:47,078,355...47,093,314
G
RMDN3
regulator of microtubule dynamics 3
involved_in
IMP
(PMID:22131369)
UniProt
PMID:22131369
NCBI chr15:40,735,887...40,755,254
Ensembl chr15:40,735,884...40,755,851
G
RYR1
ryanodine receptor 1
involved_in
IEA
InterPro
GO_REF:0000002
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
G
RYR2
ryanodine receptor 2
involved_in
ISS IEA
UniProt InterPro Ensembl
GO_REF:0000002 GO_REF:0000024 GO_REF:0000107
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
G
RYR3
ryanodine receptor 3
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:9384575)
InterPro MGI
PMID:9384575
GO_REF:0000002
NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
G
SLC10A7
solute carrier family 10 member 7
involved_in
IMP
(PMID:30082715)
UniProt
PMID:30082715
NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372
G
SLC24A1
solute carrier family 24 member 1
acts_upstream_of_or_within involved_in
IDA IBA
(PMID:26631410)
ARUK-UCL GO_Central
PMID:26631410
GO_REF:0000033
NCBI chr15:65,611,350...65,661,002
Ensembl chr15:65,611,366...65,660,995
G
SLC24A2
solute carrier family 24 member 2
acts_upstream_of_or_within involved_in
IDA IEA IBA
(PMID:26631410)
ARUK-UCL Ensembl GO_Central
PMID:26631410
GO_REF:0000033 GO_REF:0000107
NCBI chr 9:19,507,455...20,307,892
Ensembl chr 9:19,507,452...19,789,037
G
SLC24A3
solute carrier family 24 member 3
acts_upstream_of_or_within involved_in
ISS IEA IBA IDA
(PMID:26631410)
ARUK-UCL Ensembl GO_Central
PMID:26631410
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr20:19,212,642...19,722,926
Ensembl chr20:19,212,642...19,722,926
G
SLC24A4
solute carrier family 24 member 4
acts_upstream_of_or_within involved_in
IDA IBA
(PMID:26631410)
ARUK-UCL GO_Central
PMID:26631410
GO_REF:0000033
NCBI chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481
G
SLC24A5
solute carrier family 24 member 5
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr15:48,120,990...48,142,672
Ensembl chr15:48,120,990...48,142,672
G
SLC30A1
solute carrier family 30 member 1
involved_in
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 1:211,571,568...211,579,161
Ensembl chr 1:211,571,568...211,579,161
G
SLC37A4
solute carrier family 37 member 4
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
G
SLC8A1
solute carrier family 8 member A1
acts_upstream_of_or_within
ISO ISS
RGD ARUK-UCL
PMID:12234816
GO_REF:0000024 RGD:1581355
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
G
SLC8A2
solute carrier family 8 member A2
acts_upstream_of_or_within involved_in
ISS IEA
ARUK-UCL UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr19:47,428,017...47,471,893
Ensembl chr19:47,428,017...47,471,893
G
SLC8A3
solute carrier family 8 member A3
acts_upstream_of_or_within involved_in
ISS IEA
ARUK-UCL Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr14:70,044,215...70,189,405
Ensembl chr14:70,044,215...70,189,480
G
SLC8B1
solute carrier family 8 member B1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr12:113,298,771...113,335,109
Ensembl chr12:113,298,759...113,359,493
G
SPP1
secreted phosphoprotein 1
acts_upstream_of_or_within
ISO
(PMID:17898038)
MGI
PMID:17898038
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
G
SPPL2C
signal peptide peptidase like 2C
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr17:45,844,881...45,847,067
Ensembl chr17:45,844,881...45,847,067
G
STC1
stanniocalcin 1
involved_in
IDA IEA IBA
(PMID:12663264), (PMID:8700837)
UniProt GO_Central
PMID:8700837 PMID:12663264
GO_REF:0000033 GO_REF:0000104
NCBI chr 8:23,841,929...23,854,806
Ensembl chr 8:23,841,929...23,854,806
G
STC2
stanniocalcin 2
involved_in acts_upstream_of_or_within
IEA IBA
UniProt Ensembl GO_Central
GO_REF:0000033 GO_REF:0000104 GO_REF:0000107
NCBI chr 5:173,314,723...173,328,414
Ensembl chr 5:173,314,723...173,328,447
G
STIM1
stromal interaction molecule 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
G
STIM2
stromal interaction molecule 2
involved_in
IMP IBA IEA
(PMID:18160041)
UniProt GO_Central InterPro
PMID:18160041
GO_REF:0000002 GO_REF:0000033
NCBI chr 4:26,860,841...27,025,381
Ensembl chr 4:26,857,601...27,025,381
G
STOML2
stomatin like 2
involved_in
IMP
(PMID:19944461)
UniProt
PMID:19944461
NCBI chr 9:35,099,776...35,103,195
Ensembl chr 9:35,099,776...35,103,195
G
SV2A
synaptic vesicle glycoprotein 2A
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:149,903,318...149,917,844
Ensembl chr 1:149,903,318...149,917,844
G
SYPL2
synaptophysin like 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:109,466,546...109,482,134
Ensembl chr 1:109,466,546...109,482,134
G
TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
G
TGFB1
transforming growth factor beta 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
G
TMEM165
transmembrane protein 165
involved_in
IGI
(PMID:23569283)
UniProt
PMID:23569283
NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397
G
TMEM203
transmembrane protein 203
involved_in
IEA IBA IDA
(PMID:25996873)
Ensembl GO_Central UniProt
PMID:25996873
GO_REF:0000033 GO_REF:0000107
NCBI chr 9:137,204,082...137,205,648
Ensembl chr 9:137,204,082...137,205,648
G
TNNI3
troponin I3, cardiac type
involved_in acts_upstream_of_or_within
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773
G
TPCN2
two pore segment channel 2
involved_in
IDA
(PMID:19387438)
UniProt
PMID:19387438
NCBI chr11:69,048,932...69,090,597
Ensembl chr11:69,048,932...69,136,316
G
TPT1
tumor protein, translationally-controlled 1
involved_in
IC
(PMID:15958728)
UniProt
PMID:15958728
NCBI chr13:45,333,471...45,341,183
Ensembl chr13:45,333,471...45,341,284
G
TRDN
triadin
involved_in
ISO ISS
RGD BHF-UCL
PMID:18845610
GO_REF:0000024 RGD:2314599
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
G
TRPA1
transient receptor potential cation channel subfamily A member 1
involved_in
IDA IEA
(PMID:30990108)
MGI Ensembl
PMID:30990108
GO_REF:0000107
NCBI chr 8:72,021,250...72,090,010
Ensembl chr 8:72,019,917...72,075,584
G
TRPM8
transient receptor potential cation channel subfamily M member 8
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:233,917,373...234,019,522
Ensembl chr 2:233,917,373...234,019,522
G
TRPV4
transient receptor potential cation channel subfamily V member 4
involved_in
IEA IDA
(PMID:12724311)
Ensembl UniProt
PMID:12724311
GO_REF:0000107
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
G
UMOD
uromodulin
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
G
VAPB
VAMP associated protein B and C
involved_in
IMP
(PMID:22131369)
UniProt
PMID:22131369
NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101
G
VDR
vitamin D receptor
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
G
VPS54
VPS54 subunit of GARP complex
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:63,892,150...64,019,428
Ensembl chr 2:63,892,146...64,019,428
G
XK
X-linked Kx blood group antigen, Kell and VPS13A binding protein
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr X:37,685,791...37,732,130
Ensembl chr X:37,685,791...37,732,130
G
ABCB6
ATP binding cassette subfamily B member 6 (LAN blood group)
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
G
ANKRD9
ankyrin repeat domain 9
involved_in
IMP
(PMID:24522796)
UniProt
PMID:24522796
NCBI chr14:102,501,767...102,509,776
Ensembl chr14:102,501,767...102,509,799
G
APLP2
amyloid beta precursor like protein 2
acts_upstream_of_or_within
ISO
(PMID:10526140)
MGI
PMID:10526140
NCBI chr11:130,069,894...130,144,805
Ensembl chr11:130,068,147...130,144,811
G
APP
amyloid beta precursor protein
involved_in acts_upstream_of_or_within
ISS ISO
(PMID:15447675) (PMID:10526140)
UniProt MGI
PMID:10526140 PMID:15447675
GO_REF:0000024
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
G
ARF1
ARF GTPase 1
involved_in
IMP
(PMID:21034850)
UniProt
PMID:21034850
NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,708...228,099,212
G
ATOX1
antioxidant 1 copper chaperone
involved_in acts_upstream_of_or_within
TAS IEA
(PMID:9430722)
PINC Ensembl
PMID:9430722
GO_REF:0000107
NCBI chr 5:151,742,822...151,758,631
Ensembl chr 5:151,742,316...151,772,532
G
ATP7A
ATPase copper transporting alpha
involved_in acts_upstream_of_or_within
IMP IEA IBA
(PMID:16397091), (PMID:28389643)
UniProt Ensembl GO_Central
PMID:16397091 PMID:28389643
GO_REF:0000033 GO_REF:0000107
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
G
ATP7B
ATPase copper transporting beta
involved_in acts_upstream_of_or_within
TAS IEA IBA
(PMID:16554302)
UniProt Ensembl GO_Central
PMID:16554302
GO_REF:0000033 GO_REF:0000107
NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
G
CCDC22
coiled-coil domain containing 22
involved_in
IMP
(PMID:25355947)
UniProt
PMID:25355947
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
G
COX19
cytochrome c oxidase assembly factor COX19
involved_in
IMP
(PMID:23345593)
UniProt
PMID:23345593
NCBI chr 7:964,852...975,549
Ensembl chr 7:898,778...975,549
G
CP
ceruloplasmin
involved_in acts_upstream_of_or_within
IDA ISO
(PMID:14623105) (PMID:36261001)
UniProt MGI
PMID:14623105 PMID:36261001
NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
G
MT2A
metallothionein 2A
involved_in
TAS
(PMID:6719135)
PINC
PMID:6719135
NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
G
PRND
prion like protein doppel
involved_in acts_upstream_of_or_within
IBA IEA
GO_Central Ensembl
GO_REF:0000033 GO_REF:0000107
NCBI chr20:4,721,909...4,728,460
Ensembl chr20:4,721,909...4,728,460
G
PRNP
prion protein (Kanno blood group)
involved_in
NAS
(PMID:16004966)
UniProt
PMID:16004966
NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590
G
SCO1
synthesis of cytochrome C oxidase 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:25683716) (PMID:28647369) (PMID:28973536)
InterPro MGI
PMID:25683716 PMID:28647369 PMID:28973536
GO_REF:0000002
NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375
G
SCO2
synthesis of cytochrome C oxidase 2
involved_in
IEA
InterPro
GO_REF:0000002
NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
G
SLC30A10
solute carrier family 30 member 10
NOT|involved_in
IDA
(PMID:25319704)
UniProt
PMID:25319704
NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
G
SLC31A1
solute carrier family 31 member 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492
G
SLC31A2
solute carrier family 31 member 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 9:113,151,007...113,164,140
Ensembl chr 9:113,150,976...113,164,140
G
ABCB6
ATP binding cassette subfamily B member 6 (LAN blood group)
involved_in
NAS
(PMID:11977179)
UniProt
PMID:11977179
NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
G
ABCB7
ATP binding cassette subfamily B member 7
involved_in acts_upstream_of_or_within
ISS IEA IBA IMP
(PMID:30765471)
UniProt Ensembl GO_Central
PMID:30765471
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr X:75,051,048...75,156,283
Ensembl chr X:75,051,048...75,156,732
G
ACO1
aconitase 1
acts_upstream_of_or_within involved_in
ISO IEA IBA TAS
RGD Ensembl GO_Central Reactome
PMID:15086359
GO_REF:0000033 GO_REF:0000107 RGD:1642737 Reactome:R-HSA-917937
NCBI chr 9:32,384,643...32,454,769
Ensembl chr 9:32,384,603...32,454,769
G
ACVR2B
activin A receptor type 2B
involved_in
IDA
(PMID:31800957)
UniProt
PMID:31800957
NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142
G
ALAS2
5'-aminolevulinate synthase 2
involved_in acts_upstream_of_or_within
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr X:55,009,055...55,030,977
Ensembl chr X:55,009,055...55,030,977
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ATP13A2
ATPase cation transporting 13A2
involved_in
IMP
(PMID:26818499)
ParkinsonsUK-UCL
PMID:26818499
NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
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ATP6AP1
ATPase H+ transporting accessory protein 1
involved_in
IMP
(PMID:28296633)
UniProt
PMID:28296633
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
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ATP6V0A2
ATPase H+ transporting V0 subunit a2
involved_in
IMP
(PMID:28296633)
UniProt
PMID:28296633
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
G
ATP6V0D1
ATPase H+ transporting V0 subunit d1
involved_in
IMP
(PMID:28296633)
UniProt
PMID:28296633
NCBI chr16:67,438,019...67,481,157
Ensembl chr16:67,438,014...67,481,181
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ATP6V1A
ATPase H+ transporting V1 subunit A
involved_in
IMP
(PMID:28296633)
UniProt
PMID:28296633
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
G
ATP6V1G1
ATPase H+ transporting V1 subunit G1
involved_in
IMP
(PMID:28296633)
UniProt
PMID:28296633
NCBI chr 9:114,587,769...114,598,879
Ensembl chr 9:114,587,706...114,598,915
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B2M
beta-2-microglobulin
involved_in
IDA
(PMID:18353247)
BHF-UCL
PMID:18353247
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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BMP6
bone morphogenetic protein 6
involved_in acts_upstream_of_or_within
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
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BOLA1
bolA family member 1
involved_in
NAS
(PMID:27519415)
ComplexPortal
PMID:27519415
NCBI chr 1:149,899,568...149,900,795
Ensembl chr 1:149,887,890...149,900,798
G
BOLA2
bolA family member 2
involved_in
IDA IEA IBA
(PMID:27519415)
ComplexPortal InterPro GO_Central
PMID:27519415
GO_REF:0000002 GO_REF:0000033
NCBI chr16:29,453,588...29,454,964
Ensembl chr16:30,192,932...30,194,306 Ensembl chr16:30,192,932...30,194,306
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BOLA2-SMG1P6
BOLA2-SMG1P6 readthrough
involved_in
IEA
InterPro
GO_REF:0000002
NCBI chr16:29,442,905...29,454,964
Ensembl chr16:29,443,230...29,454,651
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BOLA2B
bolA family member 2B
involved_in
IDA IEA IBA
(PMID:27519415)
ComplexPortal InterPro GO_Central
PMID:27519415
GO_REF:0000002 GO_REF:0000033
NCBI chr16:30,192,932...30,193,666
Ensembl chr16:30,192,932...30,194,306
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BOLA3
bolA family member 3
involved_in
NAS
(PMID:27532772)
ComplexPortal
PMID:27532772
NCBI chr 2:74,135,400...74,147,912
Ensembl chr 2:74,135,400...74,147,912
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CCDC115
coiled-coil domain containing 115
involved_in
IMP
(PMID:28296633)
UniProt
PMID:28296633
NCBI chr 2:130,337,933...130,342,681
Ensembl chr 2:130,337,933...130,342,699
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CISD1
CDGSH iron sulfur domain 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr10:58,269,162...58,289,586
Ensembl chr10:58,269,162...58,289,586
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CP
ceruloplasmin
involved_in
TAS IDA IMP
(PMID:9445478) (PMID:14623105) (PMID:16150804), (PMID:29183916)
PINC UniProt
PMID:9445478 PMID:14623105 PMID:16150804 PMID:29183916
Reactome:R-HSA-917937
NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
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CYB561
cytochrome b561
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr17:63,432,304...63,446,639
Ensembl chr17:63,432,304...63,446,354
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CYB561A3
cytochrome b561 family member A3
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr11:61,348,745...61,362,283
Ensembl chr11:61,348,754...61,362,283
G
CYBRD1
cytochrome b reductase 1
involved_in
IDA
(PMID:14499595)
ARUK-UCL
PMID:14499595
NCBI chr 2:171,522,233...171,558,129
Ensembl chr 2:171,522,247...171,558,129
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EGLN1
egl-9 family hypoxia inducible factor 1
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:231,363,756...231,422,287
Ensembl chr 1:231,363,751...231,422,287
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ERFE
erythroferrone
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 2:238,158,970...238,168,890
Ensembl chr 2:238,158,970...238,168,900
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FBXL5
F-box and leucine rich repeat protein 5
involved_in
IMP IEA IEP
(PMID:19762596) (PMID:19762597)
UniProt InterPro
PMID:19762596 PMID:19762597
GO_REF:0000002
NCBI chr 4:15,604,381...15,681,569
Ensembl chr 4:15,604,381...15,681,679
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FLVCR1
FLVCR choline and heme transporter 1
involved_in
TAS
Reactome
Reactome:R-HSA-917937
NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
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FRRS1
ferric chelate reductase 1
involved_in
ISS IBA
ARUK-UCL GO_Central
GO_REF:0000024 GO_REF:0000033
NCBI chr 1:99,703,970...99,766,635
Ensembl chr 1:99,703,970...99,766,635
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FTH1
ferritin heavy chain 1
involved_in
TAS IEA
(PMID:6589621)
PINC UniProt InterPro
PMID:6589621
GO_REF:0000002 GO_REF:0000043
NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634
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FTH1P19
ferritin heavy chain 1 pseudogene 19
involved_in
IEA
UniProt InterPro
GO_REF:0000002 GO_REF:0000043
NCBI chr X:37,491,957...37,492,720
Ensembl chr X:37,492,021...37,492,548
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FTHL17
ferritin heavy chain like 17
involved_in
IEA
InterPro UniProt
GO_REF:0000002 GO_REF:0000043
NCBI chr X:31,071,233...31,072,041
Ensembl chr X:31,071,233...31,072,041
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FTL
ferritin light chain
involved_in
TAS IEA
(PMID:7492760)
PINC InterPro UniProt
PMID:7492760
GO_REF:0000002 GO_REF:0000043
NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896
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FTMT
ferritin mitochondrial
involved_in
IEA IDA
(PMID:11323407), (PMID:18160053)
UniProt BHF-UCL InterPro
PMID:11323407 PMID:18160053
GO_REF:0000002 GO_REF:0000043
NCBI chr 5:121,851,882...121,852,833
Ensembl chr 5:121,851,882...121,852,833
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FXN
frataxin
involved_in acts_upstream_of_or_within
IMP IEA
(PMID:18160053)
BHF-UCL Ensembl InterPro UniProt
PMID:18160053
GO_REF:0000002 GO_REF:0000043 GO_REF:0000107
NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
G
GDF2
growth differentiation factor 2
involved_in
TAS
(PMID:20406889)
DFLAT
PMID:20406889
NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
G
GLRX3
glutaredoxin 3
involved_in
IDA IBA
(PMID:27519415)
ComplexPortal GO_Central
PMID:27519415
GO_REF:0000033
NCBI chr10:130,136,391...130,180,377
Ensembl chr10:130,136,391...130,184,521
G
GLRX5
glutaredoxin 5
involved_in
NAS
(PMID:27519415), (PMID:27532772)
ComplexPortal
PMID:27519415 PMID:27532772
NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724
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HAMP
hepcidin antimicrobial peptide
involved_in
ISO IBA IDA IEA
(PMID:15514116)
RGD GO_Central CACAO InterPro
PMID:14592944 PMID:15514116
GO_REF:0000002 GO_REF:0000033 RGD:1304454
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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HEPHL1
hephaestin like 1
involved_in
IMP
(PMID:31125343)
UniProt
PMID:31125343
NCBI chr11:94,021,354...94,114,208
Ensembl chr11:94,021,354...94,114,208
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HFE
homeostatic iron regulator
involved_in
IDA
(PMID:10085150), (PMID:18353247)
UniProt
PMID:10085150 PMID:18353247
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
G
HIF1A
hypoxia inducible factor 1 subunit alpha
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
G
HJV
hemojuvelin BMP co-receptor
involved_in
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746
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HMOX1
heme oxygenase 1
involved_in
IMP IDA
(PMID:22989377) (PMID:17915953)
CACAO BHF-UCL
PMID:17915953 PMID:22989377
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
G
HPX
hemopexin
involved_in
IEA TAS
(PMID:3855550)
InterPro PINC
PMID:3855550
GO_REF:0000002
NCBI chr11:6,431,049...6,440,987
Ensembl chr11:6,431,049...6,442,617
G
IREB2
iron responsive element binding protein 2
involved_in acts_upstream_of_or_within
IMP IEA IBA TAS
(PMID:30915432)
UniProt Ensembl GO_Central Reactome
PMID:30915432
GO_REF:0000033 GO_REF:0000107 Reactome:R-HSA-917937
NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
G
ISCU
iron-sulfur cluster assembly enzyme
involved_in
IDA IBA
(PMID:16517407), (PMID:23508953)
UniProt GO_Central
PMID:16517407 PMID:23508953
GO_REF:0000033
NCBI chr12:108,561,463...108,569,384
Ensembl chr12:108,562,582...108,569,368
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LOC124907841
bolA-like protein 2
involved_in
IDA IEA IBA
(PMID:27519415)
ComplexPortal InterPro GO_Central
PMID:27519415
GO_REF:0000002 GO_REF:0000033
G
MECR
mitochondrial trans-2-enoyl-CoA reductase
acts_upstream_of
IMP
(PMID:37653044)
UniProt
PMID:37653044
NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942
G
MELTF
melanotransferrin
NOT|acts_upstream_of_or_within
ISO
(PMID:16291590)
MGI
PMID:16291590
NCBI chr 3:197,001,740...197,029,817
Ensembl chr 3:196,980,590...197,029,835
G
MON1A
MON1 homolog A, secretory trafficking associated
acts_upstream_of_or_within
ISO
(PMID:17632513)
MGI
PMID:17632513
NCBI chr 3:49,908,873...49,929,811
Ensembl chr 3:49,907,160...49,930,173
G
MT-RNR2
mitochondrially encoded 16S rRNA
involved_in
NAS
(PMID:15567815)
UniProt
PMID:15567815
NCBI chr MT:1,671...3,229
Ensembl chr MT:1,671...3,229
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MYC
MYC proto-oncogene, bHLH transcription factor
involved_in
IDA
(PMID:9924025)
UniProt
PMID:9924025
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
G
NCOA4
nuclear receptor coactivator 4
involved_in acts_upstream_of_or_within
IEA
InterPro Ensembl
GO_REF:0000002 GO_REF:0000107
NCBI chr10:46,005,088...46,030,623
Ensembl chr10:46,005,088...46,030,623
G
NDFIP1
Nedd4 family interacting protein 1
involved_in
IMP
(PMID:18776082)
UniProt
PMID:18776082
NCBI chr 5:142,108,779...142,154,440
Ensembl chr 5:142,108,779...142,154,440
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NEO1
neogenin 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr15:73,051,692...73,305,206
Ensembl chr15:73,051,710...73,305,205
G
NUBP1
NUBP iron-sulfur cluster assembly factor 1, cytosolic
involved_in
IMP
(PMID:18573874)
UniProt
PMID:18573874
NCBI chr16:10,743,842...10,769,351
Ensembl chr16:10,743,786...10,769,351
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PICALM
phosphatidylinositol binding clathrin assembly protein
involved_in
IMP
(PMID:22952941)
ARUK-UCL
PMID:22952941
NCBI chr11:85,957,175...86,069,860
Ensembl chr11:85,957,175...86,069,882
G
SCARA5
scavenger receptor class A member 5
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000104 GO_REF:0000107
NCBI chr 8:27,869,883...27,992,673
Ensembl chr 8:27,869,883...27,992,673
G
SCO1
synthesis of cytochrome C oxidase 1
acts_upstream_of_or_within
ISO
(PMID:36301669)
MGI
PMID:36301669
NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375
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SLC11A1
solute carrier family 11 member 1
involved_in acts_upstream_of_or_within
IMP IEA
(PMID:16510578)
BHF-UCL Ensembl
PMID:16510578
GO_REF:0000107
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
G
SLC11A2
solute carrier family 11 member 2
involved_in
TAS
Reactome
Reactome:R-HSA-917937
NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
G
SLC22A17
solute carrier family 22 member 17
involved_in
TAS
Reactome
Reactome:R-HSA-917937
NCBI chr14:23,346,311...23,352,887
Ensembl chr14:23,346,314...23,352,912
G
SLC40A1
solute carrier family 40 member 1
involved_in
IMP
(PMID:12091367)
BHF-UCL
PMID:12091367
NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758
G
SLC46A1
solute carrier family 46 member 1
involved_in
TAS
Reactome
Reactome:R-HSA-917937
NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197
G
SMAD1
SMAD family member 1
involved_in
IDA
(PMID:31800957)
UniProt
PMID:31800957
NCBI chr 4:145,480,770...145,559,176
Ensembl chr 4:145,481,194...145,559,176
G
SMAD4
SMAD family member 4
involved_in
IEA ISS
Ensembl BHF-UCL
GO_REF:0000024 GO_REF:0000107
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
G
SMAD5
SMAD family member 5
involved_in
IDA
(PMID:31800957)
UniProt
PMID:31800957
NCBI chr 5:136,132,845...136,182,733
Ensembl chr 5:136,132,845...136,188,747
G
SMAD9
SMAD family member 9
involved_in
IDA
(PMID:31800957)
UniProt
PMID:31800957
NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887
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SOD1
superoxide dismutase 1
involved_in acts_upstream_of_or_within
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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TF
transferrin
involved_in
IEA IGI
(PMID:18353247)
InterPro BHF-UCL
PMID:18353247
GO_REF:0000002
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
G
TFR2
transferrin receptor 2
involved_in
TAS IDA
(PMID:15319276) (PMID:18353247)
UniProt BHF-UCL
PMID:15319276 PMID:18353247
NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779
G
TFRC
transferrin receptor
involved_in acts_upstream_of_or_within
NAS IEA IBA TAS
(PMID:1871153) (PMID:10192390)
UniProt Ensembl GO_Central PINC
PMID:1871153 PMID:10192390
GO_REF:0000033 GO_REF:0000104 GO_REF:0000107
NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
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TMEM199
transmembrane protein 199
involved_in
IMP
(PMID:28296633)
UniProt
PMID:28296633
NCBI chr17:28,357,647...28,363,683
Ensembl chr17:28,357,642...28,363,683
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TMPRSS6
transmembrane serine protease 6
involved_in
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr22:37,065,436...37,110,536
Ensembl chr22:37,065,436...37,109,713
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TTC7A
tetratricopeptide repeat domain 7A
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
G
EDN3
endothelin 3
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
G
KEL
Kell metallo-endopeptidase (Kell blood group)
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:142,941,114...142,962,363
Ensembl chr 7:142,941,114...142,962,363
G
SLC41A1
solute carrier family 41 member 1
involved_in
IMP
(PMID:22031603)
ParkinsonsUK-UCL
PMID:22031603
NCBI chr 1:205,789,095...205,813,198
Ensembl chr 1:205,789,094...205,813,748
G
TMEM94
transmembrane protein 94
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452
G
TRPM7
transient receptor potential cation channel subfamily M member 7
involved_in
ISO ISS IEA
RGD UniProt Ensembl
PMID:21487014
GO_REF:0000024 GO_REF:0000107 RGD:5684918
NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
G
XK
X-linked Kx blood group antigen, Kell and VPS13A binding protein
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr X:37,685,791...37,732,130
Ensembl chr X:37,685,791...37,732,130
G
ATP2C1
ATPase secretory pathway Ca2+ transporting 1
involved_in
IDA
(PMID:12707275)
UniProt
PMID:12707275
NCBI chr 3:130,850,595...131,016,712
Ensembl chr 3:130,850,595...131,016,712
G
SLC30A10
solute carrier family 30 member 10
involved_in
IMP IDA
(PMID:22341972), (PMID:27226609), (PMID:27307044) (PMID:25319704)
UniProt
PMID:22341972 PMID:25319704 PMID:27226609 PMID:27307044
NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
G
SLC39A8
solute carrier family 39 member 8
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
G
ATP13A2
ATPase cation transporting 13A2
involved_in
TAS
(PMID:25548531)
ParkinsonsUK-UCL
PMID:25548531
NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
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CLDN16
claudin 16
involved_in
TAS
(PMID:10390358)
PINC
PMID:10390358
NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138
G
CNNM4
cyclin and CBS domain divalent metal cation transport mediator 4
involved_in
IDA
(PMID:15840172)
UniProt
PMID:15840172
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
G
COX11
cytochrome c oxidase copper chaperone COX11
involved_in
IDA
(PMID:15840172)
UniProt
PMID:15840172
NCBI chr17:54,951,902...54,968,785
Ensembl chr17:54,951,902...54,968,703
G
MINPP1
multiple inositol-polyphosphate phosphatase 1
acts_upstream_of
IMP IEA
(PMID:33257696)
UniProt Ensembl
PMID:33257696
GO_REF:0000107
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
G
MT1X
metallothionein 1X
acts_upstream_of_or_within
ISO
(PMID:12130647), (PMID:15033980)
MGI
PMID:12130647 PMID:15033980
NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
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MT3
metallothionein 3
involved_in acts_upstream_of_or_within
NAS IEA TAS
(PMID:12383939) (PMID:21818286)
UniProt Ensembl
PMID:12383939 PMID:21818286
GO_REF:0000107
NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
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MT4
metallothionein 4
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:56,565,073...56,568,957
Ensembl chr16:56,565,073...56,568,957
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SLC39A10
solute carrier family 39 member 10
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 2:195,613,029...195,737,700
Ensembl chr 2:195,575,977...195,737,702
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SLC39A12
solute carrier family 39 member 12
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr10:17,951,918...18,043,285
Ensembl chr10:17,951,839...18,043,292
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SLC39A14
solute carrier family 39 member 14
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
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SLC39A4
solute carrier family 39 member 4
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
G
SLC39A5
solute carrier family 39 member 5
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr12:56,230,051...56,237,846
Ensembl chr12:56,230,049...56,237,846
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SLC39A6
solute carrier family 39 member 6
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr18:36,108,531...36,129,340
Ensembl chr18:36,108,531...36,129,385
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SLC39A8
solute carrier family 39 member 8
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
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SLC4A11
solute carrier family 4 member 11
involved_in
IDA
(PMID:15525507)
HGNC-UCL
PMID:15525507
NCBI chr20:3,227,417...3,239,559
Ensembl chr20:3,227,417...3,239,559
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TESMIN
testis expressed metallothionein like protein
involved_in
NAS
(PMID:10191092)
UniProt
PMID:10191092
NCBI chr11:68,704,796...68,751,520
Ensembl chr11:68,707,440...68,751,520
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CFTR
CF transmembrane conductance regulator
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
G
SLC26A3
solute carrier family 26 member 3
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 7:107,765,469...107,803,223
Ensembl chr 7:107,765,467...107,803,225
G
SLC26A6
solute carrier family 26 member 6
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 3:48,625,723...48,635,461
Ensembl chr 3:48,625,723...48,635,493
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ATP6AP1
ATPase H+ transporting accessory protein 1
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
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ATP6AP2
ATPase H+ transporting accessory protein 2
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
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ATP6V0A4
ATPase H+ transporting V0 subunit a4
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560
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ATP6V0B
ATPase H+ transporting V0 subunit b
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 1:43,974,960...43,978,295
Ensembl chr 1:43,974,487...43,978,295
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ATP6V0C
ATPase H+ transporting V0 subunit c
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
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ATP6V1A
ATPase H+ transporting V1 subunit A
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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ATP6V1D
ATPase H+ transporting V1 subunit D
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr14:67,337,872...67,359,804
Ensembl chr14:67,294,371...67,360,265
G
ATP6V1F
ATPase H+ transporting V1 subunit F
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 7:128,862,856...128,865,847
Ensembl chr 7:128,862,856...128,865,847
G
ATP6V1H
ATPase H+ transporting V1 subunit H
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 8:53,715,543...53,843,245
Ensembl chr 8:53,715,543...53,843,558
G
GPR89A
G protein-coupled receptor 89A
involved_in
IDA IBA
(PMID:18794847)
UniProt GO_Central
PMID:18794847
GO_REF:0000033
NCBI chr 1:145,607,988...145,670,650
Ensembl chr 1:145,607,988...145,670,650 Ensembl chr 1:145,607,988...145,670,650
G
GPR89B
G protein-coupled receptor 89B
involved_in
IDA IBA
(PMID:18794847)
UniProt GO_Central
PMID:18794847
GO_REF:0000033
NCBI chr 1:147,928,420...148,025,934
Ensembl chr 1:147,928,393...147,993,592 Ensembl chr 1:147,928,393...147,993,592
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RNASEK
ribonuclease K
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532
G
SLC12A5
solute carrier family 12 member 5
involved_in
ISO IEA
RGD Ensembl
PMID:16420452
GO_REF:0000107 RGD:2303953
NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150
G
TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
G
TPCN2
two pore segment channel 2
involved_in
IDA IEA
(PMID:27140606)
UniProt Ensembl
PMID:27140606
GO_REF:0000107
NCBI chr11:69,048,932...69,090,597
Ensembl chr11:69,048,932...69,136,316
G
TTPA
alpha tocopherol transfer protein
ISO
RGD
PMID:22147702
RGD:7247589
NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053
G
ATP12A
ATPase H+/K+ transporting non-gastric alpha2 subunit
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr13:24,680,408...24,712,472
Ensembl chr13:24,680,408...24,712,472
G
ATP1A1
ATPase Na+/K+ transporting subunit alpha 1
involved_in
IDA IBA ISO
(PMID:10636900), (PMID:19542013)
BHF-UCL GO_Central ComplexPortal
PMID:10636900 PMID:19542013
GO_REF:0000033 GO_REF:0000114
NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261
G
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
involved_in
IDA IBA IMP
(PMID:10636900) (PMID:23954377)
BHF-UCL GO_Central
PMID:10636900 PMID:23954377
GO_REF:0000033
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
G
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
involved_in
IDA IBA
(PMID:10636900)
BHF-UCL GO_Central
PMID:10636900
GO_REF:0000033
NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
G
ATP1A4
ATPase Na+/K+ transporting subunit alpha 4
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...160,186,980
G
ATP1B1
ATPase Na+/K+ transporting subunit beta 1
involved_in
IDA IBA ISO
(PMID:10636900), (PMID:19542013)
BHF-UCL GO_Central ComplexPortal
PMID:10636900 PMID:19542013
GO_REF:0000033 GO_REF:0000114
NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992
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ATP1B2
ATPase Na+/K+ transporting subunit beta 2
involved_in
IDA IBA
(PMID:10636900), (PMID:19542013)
BHF-UCL GO_Central
PMID:10636900 PMID:19542013
GO_REF:0000033
NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
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ATP1B3
ATPase Na+/K+ transporting subunit beta 3
involved_in
IDA IBA
(PMID:10636900), (PMID:19542013)
BHF-UCL GO_Central
PMID:10636900 PMID:19542013
GO_REF:0000033
NCBI chr 3:141,876,643...141,926,549
Ensembl chr 3:141,876,124...141,926,549
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ATP4A
ATPase H+/K+ transporting subunit alpha
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr19:35,550,031...35,563,658
Ensembl chr19:35,550,031...35,563,658
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ATP4B
ATPase H+/K+ transporting subunit beta
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr13:113,648,804...113,658,198
Ensembl chr13:113,648,804...113,658,198
G
CAMK2D
calcium/calmodulin dependent protein kinase II delta
ISO
RGD
PMID:11925434
RGD:724615
NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
G
FXYD2
FXYD domain containing ion transport regulator 2
involved_in
ISO
ComplexPortal
GO_REF:0000114
NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698
G
KCNJ2
potassium inwardly rectifying channel subfamily J member 2
involved_in
TAS
(PMID:20086079)
BHF-UCL
PMID:20086079
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
G
KCNMA1
potassium calcium-activated channel subfamily M alpha 1
involved_in
IDA
(PMID:11245614)
UniProt
PMID:11245614
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
G
KCTD7
potassium channel tetramerization domain containing 7
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067
G
PRKACA
protein kinase cAMP-activated catalytic subunit alpha
involved_in
IDA
(PMID:22797923)
UniProt
PMID:22797923
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
G
SLC12A2
solute carrier family 12 member 2
acts_upstream_of_or_within
ISS
ARUK-UCL
GO_REF:0000024
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
G
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
involved_in
IDA
(PMID:22797923)
UniProt
PMID:22797923
NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222
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AGT
angiotensinogen
ISO
RGD
PMID:16380540
RGD:1582118
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
G
AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:16380540
RGD:1582118
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
G
ATP12A
ATPase H+/K+ transporting non-gastric alpha2 subunit
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr13:24,680,408...24,712,472
Ensembl chr13:24,680,408...24,712,472
G
ATP1A1
ATPase Na+/K+ transporting subunit alpha 1
involved_in
IDA IBA ISO
(PMID:10636900), (PMID:19542013)
BHF-UCL GO_Central ComplexPortal
PMID:10636900 PMID:19542013
GO_REF:0000033 GO_REF:0000114
NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261
G
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
involved_in
IDA IBA
(PMID:10636900)
BHF-UCL GO_Central
PMID:10636900
GO_REF:0000033
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
G
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
involved_in
IDA IBA
(PMID:10636900)
BHF-UCL GO_Central
PMID:10636900
GO_REF:0000033
NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
G
ATP1A4
ATPase Na+/K+ transporting subunit alpha 4
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...160,186,980
G
ATP1B1
ATPase Na+/K+ transporting subunit beta 1
involved_in
IDA IBA ISO
(PMID:10636900), (PMID:19542013)
BHF-UCL GO_Central ComplexPortal
PMID:10636900 PMID:19542013
GO_REF:0000033 GO_REF:0000114
NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992
G
ATP1B2
ATPase Na+/K+ transporting subunit beta 2
involved_in
IDA IBA
(PMID:10636900), (PMID:19542013)
BHF-UCL GO_Central
PMID:10636900 PMID:19542013
GO_REF:0000033
NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
G
ATP1B3
ATPase Na+/K+ transporting subunit beta 3
involved_in
IDA IBA
(PMID:10636900), (PMID:19542013)
BHF-UCL GO_Central
PMID:10636900 PMID:19542013
GO_REF:0000033
NCBI chr 3:141,876,643...141,926,549
Ensembl chr 3:141,876,124...141,926,549
G
ATP4A
ATPase H+/K+ transporting subunit alpha
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr19:35,550,031...35,563,658
Ensembl chr19:35,550,031...35,563,658
G
ATP4B
ATPase H+/K+ transporting subunit beta
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr13:113,648,804...113,658,198
Ensembl chr13:113,648,804...113,658,198
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C7
complement C7
ISO
RGD
PMID:10792960
RGD:1599525
NCBI chr 5:40,909,497...40,984,643
Ensembl chr 5:40,909,492...41,020,216
G
FXYD2
FXYD domain containing ion transport regulator 2
involved_in
ISO
ComplexPortal
GO_REF:0000114
NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698
G
IL1A
interleukin 1 alpha
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
G
NR3C2
nuclear receptor subfamily 3 group C member 2
acts_upstream_of_or_within
ISO
(PMID:9689096)
MGI
PMID:9689096
NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698
G
SCNN1A
sodium channel epithelial 1 subunit alpha
involved_in
IDA IEA
(PMID:16423824)
ComplexPortal Ensembl
PMID:16423824
GO_REF:0000107
NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
G
SCNN1B
sodium channel epithelial 1 subunit beta
involved_in
IDA IEA
(PMID:16423824)
ComplexPortal Ensembl
PMID:16423824
GO_REF:0000107
NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
G
SCNN1D
sodium channel epithelial 1 subunit delta
involved_in
IDA
(PMID:16423824)
ComplexPortal
PMID:16423824
NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029
G
SCNN1G
sodium channel epithelial 1 subunit gamma
involved_in
IDA IEA
(PMID:16423824)
ComplexPortal Ensembl
PMID:16423824
GO_REF:0000107
NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
G
SGK1
serum/glucocorticoid regulated kinase 1
ISO
RGD
PMID:11250940
RGD:628514
NCBI chr 6:134,169,256...134,318,112
Ensembl chr 6:134,169,248...134,318,112
G
SLC12A2
solute carrier family 12 member 2
acts_upstream_of_or_within
ISS
ARUK-UCL
GO_REF:0000024
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
G
SLC1A3
solute carrier family 1 member 3
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334
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SLC8A1
solute carrier family 8 member A1
involved_in
IDA
(PMID:1374913)
BHF-UCL
PMID:1374913
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
G
SLC9A1
solute carrier family 9 member A1
involved_in
IDA
(PMID:24840010)
BHF-UCL
PMID:24840010
NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
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SPP1
secreted phosphoprotein 1
acts_upstream_of_or_within
ISO
(PMID:17898038)
MGI
PMID:17898038
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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TMPRSS3
transmembrane serine protease 3
acts_upstream_of_or_within
IDA
(PMID:12393794)
MGI
PMID:12393794
NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091
G
UMOD
uromodulin
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
G
AP3B1
adaptor related protein complex 3 subunit beta 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762
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ATP13A2
ATPase cation transporting 13A2
involved_in
IEA IMP
(PMID:24334770), (PMID:24603074)
Ensembl ParkinsonsUK-UCL
PMID:24334770 PMID:24603074
GO_REF:0000107
NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
G
ATP7B
ATPase copper transporting beta
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
G
HPS1
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
acts_upstream_of_or_within
ISO
(PMID:30786955)
MGI
PMID:30786955
NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963
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LCK
LCK proto-oncogene, Src family tyrosine kinase
involved_in
IEP
(PMID:11739864)
UniProt
PMID:11739864
NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165
G
MT1A
metallothionein 1A
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:56,638,666...56,640,087
Ensembl chr16:56,638,666...56,640,087
G
MT1B
metallothionein 1B
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:56,651,886...56,653,204
Ensembl chr16:56,651,886...56,653,204
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MT1DP
metallothionein 1D, pseudogene
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:56,643,687...56,644,941
Ensembl chr16:56,643,725...56,644,765
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MT1E
metallothionein 1E
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:56,625,781...56,627,112
Ensembl chr16:56,625,475...56,627,112
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MT1F
metallothionein 1F
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:56,657,959...56,659,303
Ensembl chr16:56,657,731...56,660,698
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MT1G
metallothionein 1G
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:56,666,730...56,668,065
Ensembl chr16:56,666,730...56,668,065
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MT1H
metallothionein 1H
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:56,669,814...56,671,129
Ensembl chr16:56,669,814...56,671,129
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MT1HL1
metallothionein 1H like 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 1:237,004,103...237,004,441
Ensembl chr 1:237,004,103...237,004,441
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MT1L
metallothionein 1L (pseudogene)
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:56,617,461...56,618,818
Ensembl chr16:56,617,563...56,618,680
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MT1M
metallothionein 1M
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:56,632,659...56,633,981
Ensembl chr16:56,632,659...56,633,981
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MT1X
metallothionein 1X
involved_in acts_upstream_of_or_within
IBA ISO
(PMID:11792622)
GO_Central MGI
PMID:11792622
GO_REF:0000033
NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
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MT2A
metallothionein 2A
involved_in acts_upstream_of_or_within
IBA ISO
(PMID:11792622)
GO_Central MGI
PMID:11792622
GO_REF:0000033
NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
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MT3
metallothionein 3
involved_in
ISS IEA IBA
UniProt Ensembl GO_Central
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
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MT4
metallothionein 4
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:56,565,073...56,568,957
Ensembl chr16:56,565,073...56,568,957
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SCO1
synthesis of cytochrome C oxidase 1
acts_upstream_of_or_within
ISO
(PMID:36301669)
MGI
PMID:36301669
NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375
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SLC1A1
solute carrier family 1 member 1
involved_in acts_upstream_of_or_within
IEA ISO
(PMID:22575539)
Ensembl MGI
PMID:22575539
GO_REF:0000107
NCBI chr 9:4,490,468...4,587,469
Ensembl chr 9:4,490,468...4,587,469
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SLC30A1
solute carrier family 30 member 1
involved_in acts_upstream_of_or_within
IEA IBA IDA ISO ISS
(PMID:18158319) (PMID:15452870)
Ensembl GO_Central UniProt MGI BHF-UCL
PMID:15452870 PMID:18158319
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr 1:211,571,568...211,579,161
Ensembl chr 1:211,571,568...211,579,161
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SLC30A10
solute carrier family 30 member 10
NOT|involved_in
IDA IBA IMP
(PMID:25319704) (PMID:27226609) (PMID:22427991), (PMID:26728129)
UniProt GO_Central
PMID:22427991 PMID:25319704 PMID:26728129 PMID:27226609
GO_REF:0000033
NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
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SLC30A2
solute carrier family 30 member 2
involved_in
IC
(PMID:19496757)
UniProt
PMID:19496757
NCBI chr 1:26,037,252...26,046,118
Ensembl chr 1:26,037,252...26,046,118
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SLC30A5
solute carrier family 30 member 5
involved_in
IEA IBA IDA
(PMID:11937503)
InterPro GO_Central UniProt
PMID:11937503
GO_REF:0000002 GO_REF:0000033
NCBI chr 5:69,094,014...69,131,069
Ensembl chr 5:69,093,991...69,131,069
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SLC30A7
solute carrier family 30 member 7
involved_in
IEA IBA
InterPro GO_Central Ensembl
GO_REF:0000002 GO_REF:0000033 GO_REF:0000107
NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,996,260
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SLC30A8
solute carrier family 30 member 8
involved_in
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:116,950,217...117,176,714
Ensembl chr 8:116,950,273...117,176,714
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SLC30A9
solute carrier family 30 member 9
involved_in
IMP IBA
(PMID:28334855)
UniProt GO_Central
PMID:28334855
GO_REF:0000033
NCBI chr 4:41,990,530...42,090,461
Ensembl chr 4:41,990,502...42,090,461
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SLC39A10
solute carrier family 39 member 10
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:195,613,029...195,737,700
Ensembl chr 2:195,575,977...195,737,702
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SLC39A13
solute carrier family 39 member 13
involved_in
ISS IEA IBA IDA
(PMID:18985159) (PMID:21917916)
BHF-UCL Ensembl GO_Central
PMID:18985159 PMID:21917916
GO_REF:0000033 GO_REF:0000107
NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
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SLC39A14
solute carrier family 39 member 14
involved_in
IDA IEA
(PMID:15642354), (PMID:21917916)
BHF-UCL Ensembl
PMID:15642354 PMID:21917916
GO_REF:0000107
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
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SLC39A4
solute carrier family 39 member 4
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
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SLC39A6
solute carrier family 39 member 6
involved_in
IDA
(PMID:15642354)
BHF-UCL
PMID:15642354
NCBI chr18:36,108,531...36,129,340
Ensembl chr18:36,108,531...36,129,385
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SLC39A7
solute carrier family 39 member 7
involved_in
IMP IBA
(PMID:29980658)
UniProt GO_Central
PMID:29980658
GO_REF:0000033
NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439
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SLC39A8
solute carrier family 39 member 8
involved_in
IDA IEA
(PMID:19401385)
UniProt Ensembl
PMID:19401385
GO_REF:0000107
NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
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SLC39A9
solute carrier family 39 member 9
involved_in
IDA
(PMID:19420709), (PMID:23505453)
UniProt
PMID:19420709 PMID:23505453
NCBI chr14:69,398,384...69,462,390
Ensembl chr14:69,398,015...69,462,390
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TMC6
transmembrane channel like 6
involved_in
IDA
(PMID:18158319)
UniProt
PMID:18158319
NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
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TMC8
transmembrane channel like 8
involved_in
IDA IMP
(PMID:18158319)
GO_Central UniProt
PMID:18158319
NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
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ZNG1A
Zn regulated GTPase metalloprotein activator 1A
involved_in
ISO
(PMID:35584702)
UniProt
PMID:35584702
NCBI chr 9:120,837...179,056
Ensembl chr 9:120,837...179,147
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SLC11A2
solute carrier family 11 member 2
involved_in acts_upstream_of_or_within
IDA IEA NAS
(PMID:17109629) (PMID:9990067)
UniProt Ensembl BHF-UCL
PMID:9990067 PMID:17109629
GO_REF:0000107
NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
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SLC39A14
solute carrier family 39 member 14
involved_in
IMP IEA
(PMID:20682781)
UniProt Ensembl
PMID:20682781
GO_REF:0000107
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
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STEAP3
STEAP3 metalloreductase
acts_upstream_of_or_within
ISO
(PMID:16609065)
MGI
PMID:16609065
NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652
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STEAP4
STEAP4 metalloreductase
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:88,270,892...88,306,894
Ensembl chr 7:88,270,892...88,306,894
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SLC39A8
solute carrier family 39 member 8
involved_in
IEA IDA
(PMID:22898811)
Ensembl UniProt
PMID:22898811
GO_REF:0000107
NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
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STEAP2
STEAP2 metalloreductase
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:90,211,740...90,243,408
Ensembl chr 7:90,167,590...90,238,137
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ATP6AP1
ATPase H+ transporting accessory protein 1
involved_in
NAS
(PMID:32001091), (PMID:33065002)
ComplexPortal
PMID:32001091 PMID:33065002
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
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ATP6AP2
ATPase H+ transporting accessory protein 2
involved_in
IMP NAS
(PMID:32276428) (PMID:32001091), (PMID:33065002)
UniProt ComplexPortal
PMID:32001091 PMID:32276428 PMID:33065002
NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
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ATP6V0A1
ATPase H+ transporting V0 subunit a1
involved_in
NAS
(PMID:33065002)
ComplexPortal
PMID:33065002
NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582
G
ATP6V0B
ATPase H+ transporting V0 subunit b
involved_in
NAS
(PMID:32001091), (PMID:33065002)
ComplexPortal
PMID:32001091 PMID:33065002
NCBI chr 1:43,974,960...43,978,295
Ensembl chr 1:43,974,487...43,978,295
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ATP6V0C
ATPase H+ transporting V0 subunit c
involved_in
NAS
(PMID:32001091), (PMID:33065002)
ComplexPortal
PMID:32001091 PMID:33065002
NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
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ATP6V1A
ATPase H+ transporting V1 subunit A
involved_in
NAS IC
(PMID:32001091), (PMID:33065002)
ComplexPortal UniProt
PMID:32001091 PMID:33065002
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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ATP6V1D
ATPase H+ transporting V1 subunit D
involved_in
NAS
(PMID:32001091), (PMID:33065002)
ComplexPortal
PMID:32001091 PMID:33065002
NCBI chr14:67,337,872...67,359,804
Ensembl chr14:67,294,371...67,360,265
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ATP6V1F
ATPase H+ transporting V1 subunit F
involved_in
NAS
(PMID:32001091), (PMID:33065002)
ComplexPortal
PMID:32001091 PMID:33065002
NCBI chr 7:128,862,856...128,865,847
Ensembl chr 7:128,862,856...128,865,847
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ATP6V1H
ATPase H+ transporting V1 subunit H
involved_in
NAS
(PMID:32001091), (PMID:33065002)
ComplexPortal
PMID:32001091 PMID:33065002
NCBI chr 8:53,715,543...53,843,245
Ensembl chr 8:53,715,543...53,843,558
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CCDC115
coiled-coil domain containing 115
involved_in
IMP
(PMID:28296633)
UniProt
PMID:28296633
NCBI chr 2:130,337,933...130,342,681
Ensembl chr 2:130,337,933...130,342,699
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CLN3
CLN3 lysosomal/endosomal transmembrane protein, battenin
involved_in
IMP IBA
(PMID:11722572)
UniProt GO_Central
PMID:11722572
GO_REF:0000033
NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575
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CLN5
CLN5 intracellular trafficking protein
involved_in
IMP
(PMID:11722572)
UniProt
PMID:11722572
NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143
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CLN6
CLN6 transmembrane ER protein
involved_in
IMP
(PMID:11722572)
UniProt
PMID:11722572
NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211
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CREG1
cellular repressor of E1A stimulated genes 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:167,541,013...167,553,762
Ensembl chr 1:167,529,117...167,553,805
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GRN
granulin precursor
involved_in
IMP
(PMID:28073925)
UniProt
PMID:28073925
NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
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LAMP1
lysosomal associated membrane protein 1
involved_in
IDA
(PMID:37390818)
UniProt
PMID:37390818
NCBI chr13:113,297,239...113,323,672
Ensembl chr13:113,297,239...113,323,672
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LAMP2
lysosomal associated membrane protein 2
involved_in
IDA
(PMID:37390818)
UniProt
PMID:37390818
NCBI chr X:120,426,148...120,469,349
Ensembl chr X:120,426,148...120,469,365
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PPT1
palmitoyl-protein thioesterase 1
involved_in
IMP
(PMID:11722572)
UniProt
PMID:11722572
NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260
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RNASEK
ribonuclease K
involved_in
NAS
(PMID:32001091), (PMID:33065002)
ComplexPortal
PMID:32001091 PMID:33065002
NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532
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SNAPIN
SNAP associated protein
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:153,658,654...153,661,852
Ensembl chr 1:153,658,703...153,661,852
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TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TMEM106B
transmembrane protein 106B
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
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TMEM199
transmembrane protein 199
involved_in
IMP
(PMID:28296633)
UniProt
PMID:28296633
NCBI chr17:28,357,647...28,363,683
Ensembl chr17:28,357,642...28,363,683
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TMEM9
transmembrane protein 9
involved_in
IDA
(PMID:30374053)
UniProt
PMID:30374053
NCBI chr 1:201,134,772...201,171,558
Ensembl chr 1:201,134,772...201,171,574
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CLN3
CLN3 lysosomal/endosomal transmembrane protein, battenin
involved_in
IDA
(PMID:10924275)
UniProt
PMID:10924275
NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575
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OCA2
OCA2 melanosomal transmembrane protein
involved_in
IDA
(PMID:25513726), (PMID:32966160)
UniProt
PMID:25513726 PMID:32966160
NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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SLC45A2
solute carrier family 45 member 2
involved_in
ISS IEA IDA
(PMID:32966160)
UniProt Ensembl
PMID:32966160
GO_REF:0000024 GO_REF:0000107
NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693
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TMEM175
transmembrane protein 175
involved_in
IDA
(PMID:35333573), (PMID:35750034), (PMID:37390818)
UniProt
PMID:35333573 PMID:35750034 PMID:37390818
NCBI chr 4:932,460...958,656
Ensembl chr 4:932,387...958,656
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ANK3
ankyrin 3
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr10:60,026,298...60,733,528
Ensembl chr10:60,026,298...60,733,490
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CNNM1
cyclin and CBS domain divalent metal cation transport mediator 1
involved_in
IEA IBA
InterPro GO_Central
GO_REF:0000002 GO_REF:0000033
NCBI chr10:99,329,356...99,394,330
Ensembl chr10:99,329,356...99,394,330
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CNNM2
cyclin and CBS domain divalent metal cation transport mediator 2
acts_upstream_of_or_within involved_in
IMP IBA IEA
(PMID:21397062)
MGI GO_Central InterPro
PMID:21397062
GO_REF:0000002 GO_REF:0000033
NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222
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CNNM3
cyclin and CBS domain divalent metal cation transport mediator 3
involved_in
IEA IBA
InterPro GO_Central
GO_REF:0000002 GO_REF:0000033
NCBI chr 2:96,816,268...96,837,466
Ensembl chr 2:96,816,245...96,835,382
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CNNM4
cyclin and CBS domain divalent metal cation transport mediator 4
involved_in acts_upstream_of_or_within
IEA IBA
InterPro Ensembl GO_Central
GO_REF:0000002 GO_REF:0000033 GO_REF:0000107
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
involved_in
ISO
(PMID:28402956)
MGI
PMID:28402956
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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KCNA1
potassium voltage-gated channel subfamily A member 1
involved_in
IMP
(PMID:19307729)
UniProt
PMID:19307729
NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
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MTSS1
MTSS I-BAR domain containing 1
acts_upstream_of_or_within
ISO
(PMID:21406566)
MGI
PMID:21406566
NCBI chr 8:124,550,784...124,728,473
Ensembl chr 8:124,550,784...124,728,473
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PTH
parathyroid hormone
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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TRMT10A
tRNA methyltransferase 10A
acts_upstream_of_or_within
ISO
(PMID:23870131)
MGI
PMID:23870131
NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
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TRPM7
transient receptor potential cation channel subfamily M member 7
involved_in
IDA
(PMID:12887921)
UniProt
PMID:12887921
NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
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SLC30A10
solute carrier family 30 member 10
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
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SLC39A14
solute carrier family 39 member 14
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
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AFG3L2
AFG3 like matrix AAA peptidase subunit 2
involved_in
IMP
(PMID:27642048)
UniProt
PMID:27642048
NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227
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ANXA6
annexin A6
involved_in
IEA IBA
Ensembl GO_Central
GO_REF:0000033 GO_REF:0000107
NCBI chr 5:151,100,706...151,157,779
Ensembl chr 5:151,100,706...151,157,815
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C19orf12
chromosome 19 open reading frame 12
involved_in
IMP
(PMID:26136767)
UniProt
PMID:26136767
NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
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DISC1
DISC1 scaffold protein
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:231,626,790...232,041,272
Ensembl chr 1:231,626,790...232,041,272
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IMMT
inner membrane mitochondrial protein
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:86,143,936...86,195,462
Ensembl chr 2:86,143,932...86,195,472
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LETM1
leucine zipper and EF-hand containing transmembrane protein 1
involved_in
IEA IDA
(PMID:19797662)
Ensembl UniProt
PMID:19797662
GO_REF:0000107
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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LETMD1
LETM1 domain containing 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr12:51,048,220...51,068,958
Ensembl chr12:51,047,962...51,060,424
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MAIP1
matrix AAA peptidase interacting protein 1
involved_in
IMP
(PMID:27642048)
UniProt
PMID:27642048
NCBI chr 2:199,955,317...199,964,117
Ensembl chr 2:199,955,317...200,008,540
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MCU
mitochondrial calcium uniporter
involved_in
ISO IEA IBA NAS IDA
(PMID:24514027), (PMID:31533452), (PMID:31862210) (PMID:32494073)
RGD UniProt GO_Central ComplexPortal Ensembl InterPro
PMID:22425903 PMID:24514027 PMID:31533452 PMID:31862210 PMID:32494073
GO_REF:0000002 GO_REF:0000033 GO_REF:0000104 GO_REF:0000107 RGD:7175069
NCBI chr10:72,692,143...72,887,694
Ensembl chr10:72,692,143...72,887,694
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MCUB
mitochondrial calcium uniporter dominant negative subunit beta
involved_in
IEA IBA NAS ISS
(PMID:31533452)
InterPro GO_Central ComplexPortal UniProt
PMID:31533452
GO_REF:0000002 GO_REF:0000024 GO_REF:0000033
NCBI chr 4:109,560,246...109,688,719
Ensembl chr 4:109,560,209...109,688,719
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MFN2
mitofusin 2
ISO
RGD
PMID:25147362
RGD:13204807
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MICU1
mitochondrial calcium uptake 1
involved_in
IDA IBA NAS IMP
(PMID:32494073) (PMID:24514027), (PMID:31533452), (PMID:31862210) (PMID:20693986), (PMID:23101630), (PMID:26903221), (PMID:27099988)
ComplexPortal GO_Central UniProt
PMID:20693986 PMID:23101630 PMID:24514027 PMID:26903221 PMID:27099988 PMID:31533452 PMID:31862210 PMID:32494073 More...
GO_REF:0000033
NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131
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MICU2
mitochondrial calcium uptake 2
involved_in
IDA IBA NAS IMP
(PMID:32494073) (PMID:31533452) (PMID:26903221)
ComplexPortal GO_Central UniProt
PMID:26903221 PMID:31533452 PMID:32494073
GO_REF:0000033
NCBI chr13:21,492,691...21,604,170
Ensembl chr13:21,492,691...21,604,181
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MICU3
mitochondrial calcium uptake family member 3
involved_in
NAS IBA
(PMID:31862210)
ComplexPortal GO_Central
PMID:31862210
GO_REF:0000033
NCBI chr 8:17,027,238...17,138,640
Ensembl chr 8:17,027,238...17,122,642
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PDZD8
PDZ domain containing 8
involved_in
IEA IBA IDA
(PMID:29097544)
InterPro GO_Central Ensembl UniProt
PMID:29097544
GO_REF:0000002 GO_REF:0000033 GO_REF:0000107
NCBI chr10:117,277,274...117,375,440
Ensembl chr10:117,277,274...117,375,440
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SLC8A3
solute carrier family 8 member A3
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr14:70,044,215...70,189,405
Ensembl chr14:70,044,215...70,189,480
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SLC8B1
solute carrier family 8 member B1
involved_in
IMP IEA IDA
(PMID:20018762) (PMID:24898248)
BHF-UCL Ensembl UniProt
PMID:20018762 PMID:24898248
GO_REF:0000107
NCBI chr12:113,298,771...113,335,109
Ensembl chr12:113,298,759...113,359,493
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SMDT1
single-pass membrane protein with aspartate rich tail 1
involved_in
IEA IBA NAS IMP IDA
(PMID:24514027), (PMID:31533452), (PMID:31862210) (PMID:24231807), (PMID:27099988), (PMID:27642048) (PMID:32494073)
InterPro GO_Central ComplexPortal UniProt
PMID:24231807 PMID:24514027 PMID:27099988 PMID:27642048 PMID:31533452 PMID:31862210 PMID:32494073 More...
GO_REF:0000002 GO_REF:0000033
NCBI chr22:42,079,700...42,084,284
Ensembl chr22:42,079,691...42,084,284
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ANK1
ankyrin 1
acts_upstream_of_or_within
ISO
(PMID:23390527)
MGI
PMID:23390527
NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
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B2M
beta-2-microglobulin
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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BMP6
bone morphogenetic protein 6
involved_in
ISS IMP IEA
(PMID:26582087), (PMID:28335084), (PMID:32464486)
BHF-UCL UniProt Ensembl
PMID:26582087 PMID:28335084 PMID:32464486
GO_REF:0000024 GO_REF:0000107
NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
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BTBD9
BTB domain containing 9
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:38,168,451...38,639,929
Ensembl chr 6:38,168,451...38,640,148
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CYBRD1
cytochrome b reductase 1
involved_in
IDA
(PMID:30272000)
UniProt
PMID:30272000
NCBI chr 2:171,522,233...171,558,129
Ensembl chr 2:171,522,247...171,558,129
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EIF2AK1
eukaryotic translation initiation factor 2 alpha kinase 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:6,022,247...6,059,175
Ensembl chr 7:6,022,247...6,059,175
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EPAS1
endothelial PAS domain protein 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
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EPB42
erythrocyte membrane protein band 4.2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
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FBXL5
F-box and leucine rich repeat protein 5
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 4:15,604,381...15,681,569
Ensembl chr 4:15,604,381...15,681,679
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FECH
ferrochelatase
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732
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HAMP
hepcidin antimicrobial peptide
involved_in acts_upstream_of_or_within
IMP ISO
(PMID:12469120) (PMID:20113314) (PMID:24561287) (PMID:16574947), (PMID:20811044), (PMID:22128145), (PMID:23637785), (PMID:24357728) (PMID:20530874), (PMID:24646470)
BHF-UCL MGI
PMID:12469120 PMID:16574947 PMID:20113314 PMID:20530874 PMID:20811044 PMID:22128145 PMID:23637785 PMID:24357728 PMID:24561287 PMID:24646470 More...
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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HEPH
hephaestin
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr X:66,162,671...66,268,863
Ensembl chr X:66,162,671...66,268,867
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HFE
homeostatic iron regulator
acts_upstream_of_or_within involved_in
ISO IEA IMP
(PMID:21173098)
RGD Ensembl BHF-UCL
PMID:15082582 PMID:21173098
GO_REF:0000107 RGD:1582699
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
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HJV
hemojuvelin BMP co-receptor
acts_upstream_of_or_within
IDA IEA IGI
(PMID:16075058)
MGI Ensembl
PMID:16075058
GO_REF:0000107
NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746
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HMOX1
heme oxygenase 1
involved_in
IMP
(PMID:9884342)
BHF-UCL
PMID:9884342
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HTT
huntingtin
acts_upstream_of_or_within
ISO
(PMID:11092755)
MGI
PMID:11092755
NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
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HYAL2
hyaluronidase 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:50,317,808...50,322,745
Ensembl chr 3:50,317,790...50,322,782
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IREB2
iron responsive element binding protein 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
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MIR122
microRNA 122
acts_upstream_of_or_within
ISO
(PMID:21364282)
MGI
PMID:21364282
NCBI chr18:58,451,074...58,451,158
Ensembl chr18:58,451,074...58,451,158
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MIR17
microRNA 17
acts_upstream_of_or_within
ISO
(PMID:21364282)
MGI
PMID:21364282
NCBI chr13:91,350,605...91,350,688
Ensembl chr13:91,350,605...91,350,688
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NAGLU
N-acetyl-alpha-glucosaminidase
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449
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NEO1
neogenin 1
acts_upstream_of_or_within
IGI
(PMID:16075058)
MGI
PMID:16075058
NCBI chr15:73,051,692...73,305,206
Ensembl chr15:73,051,710...73,305,205
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PICALM
phosphatidylinositol binding clathrin assembly protein
involved_in
IMP
(PMID:22952941)
Alzheimers_University_of_Toronto
PMID:22952941
NCBI chr11:85,957,175...86,069,860
Ensembl chr11:85,957,175...86,069,882
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RHAG
Rh associated glycoprotein
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:49,605,175...49,636,839
Ensembl chr 6:49,605,175...49,636,839
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RHD
Rh blood group D antigen
acts_upstream_of_or_within
ISO
(PMID:19807729)
MGI
PMID:19807729
NCBI chr 1:25,272,486...25,330,445
Ensembl chr 1:25,272,393...25,330,445
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SLC11A1
solute carrier family 11 member 1
involved_in acts_upstream_of_or_within
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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SLC11A2
solute carrier family 11 member 2
involved_in acts_upstream_of_or_within
IMP IEA
(PMID:15459009)
BHF-UCL Ensembl
PMID:15459009
GO_REF:0000107
NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
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SLC40A1
solute carrier family 40 member 1
involved_in acts_upstream_of_or_within
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758
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SOD2
superoxide dismutase 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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TF
transferrin
involved_in
IMP
(PMID:11113131)
UniProt
PMID:11113131
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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TFR2
transferrin receptor 2
involved_in acts_upstream_of_or_within
IMP IEA
(PMID:21173098)
BHF-UCL Ensembl
PMID:21173098
GO_REF:0000107
NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779
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TFRC
transferrin receptor
involved_in
IDA
(PMID:26642240)
UniProt
PMID:26642240
NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
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TMPRSS6
transmembrane serine protease 6
involved_in acts_upstream_of_or_within
IMP IEA
(PMID:18408718)
UniProt Ensembl
PMID:18408718
GO_REF:0000107
NCBI chr22:37,065,436...37,110,536
Ensembl chr22:37,065,436...37,109,713
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BCL2
BCL2 apoptosis regulator
involved_in
IDA
(PMID:10506221)
UniProt
PMID:10506221
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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ATP2A1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
involved_in
IMP
(PMID:11402072), (PMID:19061639)
BHF-UCL
PMID:11402072 PMID:19061639
NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
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BAK1
BCL2 antagonist/killer 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293
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BAX
BCL2 associated X, apoptosis regulator
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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RAP1GDS1
Rap1 GTPase-GDP dissociation stimulator 1
involved_in
IMP
(PMID:24349085)
UniProt
PMID:24349085
NCBI chr 4:98,261,384...98,443,858
Ensembl chr 4:98,261,384...98,443,858
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TGM2
transglutaminase 2
involved_in
IEA IMP
(PMID:24349085)
Ensembl UniProt
PMID:24349085
GO_REF:0000107
NCBI chr20:38,127,385...38,168,475
Ensembl chr20:38,127,385...38,166,578
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THADA
THADA armadillo repeat containing
involved_in
IMP
(PMID:28399403)
FlyBase
PMID:28399403
NCBI chr 2:43,230,851...43,596,038
Ensembl chr 2:43,230,851...43,596,038
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ISCU
iron-sulfur cluster assembly enzyme
involved_in
IMP
(PMID:20436681)
ARUK-UCL
PMID:20436681
NCBI chr12:108,561,463...108,569,384
Ensembl chr12:108,562,582...108,569,368
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FATE1
fetal and adult testis expressed 1
involved_in
IDA IBA
(PMID:12865919)
UniProt GO_Central
PMID:12865919
GO_REF:0000033
NCBI chr X:151,716,035...151,723,194
Ensembl chr X:151,716,035...151,723,194
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LETM1
leucine zipper and EF-hand containing transmembrane protein 1
involved_in
IMP
(PMID:26975899)
UniProt
PMID:26975899
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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MICU2
mitochondrial calcium uptake 2
involved_in
IDA
(PMID:24560927)
UniProt
PMID:24560927
NCBI chr13:21,492,691...21,604,170
Ensembl chr13:21,492,691...21,604,181
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NOL3
nucleolar protein 3
involved_in
ISO
PMID:23382383
UniProt
PMID:23382383
RGD:10047354
NCBI chr16:67,170,538...67,175,737
Ensembl chr16:67,170,154...67,175,737
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PRKCE
protein kinase C epsilon
involved_in
ISO
PMID:20383739
UniProt
PMID:20383739
RGD:7206836
NCBI chr 2:45,651,279...46,187,990
Ensembl chr 2:45,651,345...46,187,990
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SLC25A27
solute carrier family 25 member 27
involved_in
ISO IEA
RGD Ensembl
PMID:16775390
GO_REF:0000107 RGD:6482848
NCBI chr 6:46,652,975...46,678,190
Ensembl chr 6:46,652,915...46,678,190
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FCRL5
Fc receptor like 5
acts_upstream_of_or_within
ISO
(PMID:23509253)
MGI
PMID:23509253
NCBI chr 1:157,513,377...157,552,515
Ensembl chr 1:157,513,377...157,552,515
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FKBP1B
FKBP prolyl isomerase 1B
involved_in
IDA
(PMID:12443530)
BHF-UCL
PMID:12443530
NCBI chr 2:24,033,206...24,063,681
Ensembl chr 2:24,049,701...24,063,681
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GSTO1
glutathione S-transferase omega 1
involved_in
IDA
(PMID:11035031)
BHF-UCL
PMID:11035031
NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
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NTSR1
neurotensin receptor 1
involved_in
ISO IEA
RGD Ensembl
PMID:12084713
GO_REF:0000107 RGD:727385
NCBI chr20:62,708,836...62,762,771
Ensembl chr20:62,708,836...62,762,771
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PRKCE
protein kinase C epsilon
involved_in
ISO
PMID:20383739
UniProt
PMID:20383739
RGD:7206836
NCBI chr 2:45,651,279...46,187,990
Ensembl chr 2:45,651,345...46,187,990
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TGFB1
transforming growth factor beta 1
involved_in
ISO IEA
RGD Ensembl
PMID:12876066
GO_REF:0000107 RGD:731229
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TGFB2
transforming growth factor beta 2
ISO
RGD
PMID:12876066
RGD:731229
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
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TRDN
triadin
ISO
RGD
PMID:16176928
RGD:7327230
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
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SPX
spexin hormone
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr12:21,526,296...21,532,947
Ensembl chr12:21,526,296...21,541,249
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CALM1
calmodulin 1
involved_in
IDA
(PMID:26164367)
UniProt
PMID:26164367
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
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CALM2
calmodulin 2
involved_in
IDA
(PMID:26164367)
UniProt
PMID:26164367
NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
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CALM3
calmodulin 3
involved_in
IDA
(PMID:26164367)
UniProt
PMID:26164367
NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
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PKD2
polycystin 2, transient receptor potential cation channel
acts_upstream_of_or_within
ISO
(PMID:17404231)
MGI
PMID:17404231
NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777
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ANXA6
annexin A6
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 5:151,100,706...151,157,779
Ensembl chr 5:151,100,706...151,157,815
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SLC4A1
solute carrier family 4 member 1 (Diego blood group)
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
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ATP4A
ATPase H+/K+ transporting subunit alpha
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr19:35,550,031...35,563,658
Ensembl chr19:35,550,031...35,563,658
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ATP4B
ATPase H+/K+ transporting subunit beta
involved_in
ISO IEA
RGD Ensembl
PMID:19064992
GO_REF:0000107 RGD:14696784
NCBI chr13:113,648,804...113,658,198
Ensembl chr13:113,648,804...113,658,198
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ATP6V1B1
ATPase H+ transporting V1 subunit B1
involved_in
IMP
(PMID:16769747), (PMID:20622307)
UniProt
PMID:16769747 PMID:20622307
NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
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CCKBR
cholecystokinin B receptor
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:6,259,838...6,272,127
Ensembl chr11:6,259,806...6,272,127
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ROGDI
rogdi atypical leucine zipper
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880
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SLC4A3
solute carrier family 4 member 3
involved_in
IMP
(PMID:29167417)
UniProt
PMID:29167417
NCBI chr 2:219,627,630...219,641,971
Ensembl chr 2:219,627,394...219,641,980
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TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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RAB20
RAB20, member RAS oncogene family
involved_in
IMP
(PMID:21255211)
UniProt
PMID:21255211
NCBI chr13:110,523,066...110,561,722
Ensembl chr13:110,523,066...110,561,722
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RAB38
RAB38, member RAS oncogene family
involved_in
IMP
(PMID:21255211)
UniProt
PMID:21255211
NCBI chr11:87,803,715...88,175,443
Ensembl chr11:88,113,251...88,175,443
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RAB39A
RAB39A, member RAS oncogene family
involved_in
IMP
(PMID:21255211)
UniProt
PMID:21255211
NCBI chr11:107,928,448...107,963,482
Ensembl chr11:107,928,448...107,963,482
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RAB7A
RAB7A, member RAS oncogene family
involved_in
IMP
(PMID:21255211)
UniProt
PMID:21255211
NCBI chr 3:128,726,183...128,814,798
Ensembl chr 3:128,693,669...128,825,942
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SLAMF8
SLAM family member 8
acts_upstream_of_or_within
ISS
UniProt
GO_REF:0000024
NCBI chr 1:159,826,873...159,837,492
Ensembl chr 1:159,826,811...159,837,492
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SLC4A7
solute carrier family 4 member 7
involved_in
IDA
(PMID:29779931)
UniProt
PMID:29779931
NCBI chr 3:27,372,723...27,484,384
Ensembl chr 3:27,372,723...27,484,420
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TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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AVP
arginine vasopressin
involved_in
ISO IEA
RGD Ensembl
PMID:17762181
GO_REF:0000107 RGD:2300343
NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724
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AVPR1A
arginine vasopressin receptor 1A
involved_in
ISO IEA
RGD Ensembl
PMID:17762181
GO_REF:0000107 RGD:2300343
NCBI chr12:63,142,759...63,151,201
Ensembl chr12:63,142,759...63,151,201
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AVPR1B
arginine vasopressin receptor 1B
ISO
RGD
PMID:17762181
RGD:2300343
NCBI chr 1:206,106,936...206,117,388
Ensembl chr 1:206,106,936...206,117,699
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CA2
carbonic anhydrase 2
acts_upstream_of_or_within
ISO IEA
RGD Ensembl
PMID:9665810
GO_REF:0000107 RGD:1342423
NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
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CA7
carbonic anhydrase 7
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:66,844,414...66,854,147
Ensembl chr16:66,844,414...66,854,153
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ATP2A1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
involved_in
IMP
(PMID:11402072)
BHF-UCL
PMID:11402072
NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
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ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
involved_in acts_upstream_of_or_within
IDA IEA
(PMID:16402920)
BHF-UCL Ensembl
PMID:16402920
GO_REF:0000107
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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TMTC4
transmembrane O-mannosyltransferase targeting cadherins 4
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr13:100,603,625...100,675,075
Ensembl chr13:100,603,625...100,675,093
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UBE3A
ubiquitin protein ligase E3A
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051
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HAP1
huntingtin associated protein 1
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr17:41,717,739...41,734,646
Ensembl chr17:41,717,742...41,734,644
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HTT
huntingtin
involved_in
IDA
(PMID:12873381)
UniProt
PMID:12873381
NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
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IFNG
interferon gamma
involved_in
ISS
ARUK-UCL
GO_REF:0000024
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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LCN2
lipocalin 2
involved_in
ISO IEA
RGD Ensembl
PMID:25557118
GO_REF:0000107 RGD:126790477
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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MIR210
microRNA 210
involved_in
IDA
(PMID:20436681)
ARUK-UCL
PMID:20436681
NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198
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ATP2A1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
involved_in
IMP
(PMID:19061639)
BHF-UCL
PMID:19061639
NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
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BNIP3
BCL2 interacting protein 3
involved_in
ISO IEA
RGD Ensembl
PMID:25489073
GO_REF:0000107 RGD:11561978
NCBI chr10:131,967,684...131,981,923
Ensembl chr10:131,967,684...131,981,967
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MCU
mitochondrial calcium uniporter
involved_in
ISO IMP IEA IDA
(PMID:21685886), (PMID:23755363) (PMID:21685888), (PMID:24560927)
RGD UniProt Ensembl
PMID:16920631 PMID:21685886 PMID:21685888 PMID:22425903 PMID:23755363 PMID:24560927 More...
GO_REF:0000107 RGD:7175069 RGD:7175075
NCBI chr10:72,692,143...72,887,694
Ensembl chr10:72,692,143...72,887,694
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MCUR1
mitochondrial calcium uniporter regulator 1
involved_in
IMP IBA
(PMID:23178883), (PMID:26445506), (PMID:27184846)
UniProt GO_Central
PMID:23178883 PMID:26445506 PMID:27184846
GO_REF:0000033
NCBI chr 6:13,786,557...13,814,557
Ensembl chr 6:13,786,557...13,814,568
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MICU1
mitochondrial calcium uptake 1
involved_in
IDA IMP
(PMID:24560927) (PMID:26975899)
UniProt
PMID:24560927 PMID:26975899
NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131
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MICU2
mitochondrial calcium uptake 2
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr13:21,492,691...21,604,170
Ensembl chr13:21,492,691...21,604,181
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RAP1GDS1
Rap1 GTPase-GDP dissociation stimulator 1
involved_in
IMP
(PMID:24349085)
UniProt
PMID:24349085
NCBI chr 4:98,261,384...98,443,858
Ensembl chr 4:98,261,384...98,443,858
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SLC25A23
solute carrier family 25 member 23
involved_in
IMP
(PMID:26975899)
UniProt
PMID:26975899
NCBI chr19:6,436,081...6,459,792
Ensembl chr19:6,436,079...6,465,203
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TGM2
transglutaminase 2
involved_in
IEA IMP
(PMID:24349085)
Ensembl UniProt
PMID:24349085
GO_REF:0000107
NCBI chr20:38,127,385...38,168,475
Ensembl chr20:38,127,385...38,166,578
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ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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AKAP6
A-kinase anchoring protein 6
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr14:32,329,298...32,837,684
Ensembl chr14:32,329,298...32,837,684
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APLNR
apelin receptor
involved_in
IMP
(PMID:25639753)
UniProt
PMID:25639753
NCBI chr11:57,233,591...57,237,250
Ensembl chr11:57,233,577...57,237,250
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BAX
BCL2 associated X, apoptosis regulator
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BDKRB1
bradykinin receptor B1
NOT involved_in
ISO IEA
in nociceptive dorsal root ganglion neurons in urinary bladder urothelium
RGD Ensembl
PMID:15319421 PMID:15576455
GO_REF:0000107 RGD:1625040 RGD:1625754
NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
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CAPN3
calpain 3
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
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CASQ1
calsequestrin 1
involved_in
IMP
(PMID:28895244)
UniProt
PMID:28895244
NCBI chr 1:160,190,575...160,201,886
Ensembl chr 1:160,190,575...160,201,886
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CD19
CD19 molecule
involved_in acts_upstream_of_or_within
IEA ISO IDA IMP
(PMID:19228876) (PMID:16672701) (PMID:9382888)
Ensembl MGI UniProt
PMID:9382888 PMID:16672701 PMID:19228876
GO_REF:0000107
NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
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CEMIP
cell migration inducing hyaluronidase 1
involved_in
IDA
(PMID:23990668)
UniProt
PMID:23990668
NCBI chr15:80,779,370...80,951,771
Ensembl chr15:80,779,343...80,951,776
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CLEC4C
C-type lectin domain family 4 member C
acts_upstream_of_or_within
ISO
(PMID:12777403)
MGI
PMID:12777403
NCBI chr12:7,729,383...7,749,541
Ensembl chr12:7,729,383...7,751,605
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CX3CL1
C-X3-C motif chemokine ligand 1
involved_in
IGI
(PMID:10415068), (PMID:10869418)
ARUK-UCL
PMID:10415068 PMID:10869418
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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CXCL10
C-X-C motif chemokine ligand 10
involved_in
IDA
(PMID:12782716)
UniProt
PMID:12782716
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCL11
C-X-C motif chemokine ligand 11
involved_in
IDA
(PMID:12782716)
UniProt
PMID:12782716
NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
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CXCL9
C-X-C motif chemokine ligand 9
involved_in
IDA
(PMID:12782716)
UniProt
PMID:12782716
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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CXCR3
C-X-C motif chemokine receptor 3
involved_in
IMP
(PMID:12782716)
UniProt
PMID:12782716
NCBI chr X:71,615,919...71,618,511
Ensembl chr X:71,615,916...71,618,511
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DBI
diazepam binding inhibitor, acyl-CoA binding protein
ISO
RGD
PMID:9804683
RGD:2316286
NCBI chr 2:119,366,977...119,372,543
Ensembl chr 2:119,366,924...119,372,550
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DRD1
dopamine receptor D1
involved_in
IDA
(PMID:1282671), (PMID:7838121)
BHF-UCL
PMID:1282671 PMID:7838121
NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
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EDNRA
endothelin receptor type A
ISO
RGD
PMID:12628492
RGD:728499
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
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F2
coagulation factor II, thrombin
involved_in
IDA
(PMID:1672265), (PMID:19052258)
BHF-UCL
PMID:1672265 PMID:19052258
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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F2R
coagulation factor II thrombin receptor
involved_in
IDA
(PMID:1672265)
BHF-UCL
PMID:1672265
NCBI chr 5:76,716,126...76,735,770
Ensembl chr 5:76,716,126...76,735,770
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F2RL3
F2R like thrombin or trypsin receptor 3
involved_in
IDA
(PMID:18480058)
BHF-UCL
PMID:18480058
NCBI chr19:16,888,999...16,892,606
Ensembl chr19:16,888,999...16,892,606
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GPER1
G protein-coupled estrogen receptor 1
involved_in
IDA
(PMID:15705806)
UniProt
PMID:15705806
NCBI chr 7:1,087,118...1,093,810
Ensembl chr 7:1,082,208...1,093,815
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GPR39
G protein-coupled receptor 39
acts_upstream_of_or_within
ISO
(PMID:23133519) (PMID:26375174)
MGI
PMID:23133519 PMID:26375174
NCBI chr 2:132,416,805...132,646,582
Ensembl chr 2:132,416,805...132,646,582
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GSTO1
glutathione S-transferase omega 1
involved_in
IDA
(PMID:11035031)
BHF-UCL
PMID:11035031
NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
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IL13
interleukin 13
involved_in
ISO IEA
RGD Ensembl
PMID:20045483
GO_REF:0000107 RGD:4145470
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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LACRT
lacritin
involved_in
IDA
(PMID:16923831)
UniProt
PMID:16923831
NCBI chr12:54,630,811...54,634,895
Ensembl chr12:54,630,811...54,634,895
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LHCGR
luteinizing hormone/choriogonadotropin receptor
ISO
RGD
PMID:8187959
RGD:2292619
NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730
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NPSR1
neuropeptide S receptor 1
involved_in
IDA IBA
(PMID:16790440)
UniProt GO_Central
PMID:16790440
GO_REF:0000033
NCBI chr 7:34,658,218...34,878,332
Ensembl chr 7:34,658,218...34,878,332
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NTSR1
neurotensin receptor 1
involved_in
ISO IEA
RGD Ensembl
PMID:10799761
GO_REF:0000107 RGD:9743926
NCBI chr20:62,708,836...62,762,771
Ensembl chr20:62,708,836...62,762,771
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P2RY6
pyrimidinergic receptor P2Y6
involved_in
TAS ISS
(PMID:17410128)
ARUK-UCL
PMID:17410128
GO_REF:0000024
NCBI chr11:73,264,506...73,298,625
Ensembl chr11:73,264,498...73,305,103
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PDPK1
3-phosphoinositide dependent protein kinase 1
involved_in
IDA
(PMID:22454520)
BHF-UCL
PMID:22454520
NCBI chr16:2,538,021...2,603,188
Ensembl chr16:2,537,979...2,603,190
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PLCG1
phospholipase C gamma 1
involved_in
IMP
(PMID:22454520)
BHF-UCL
PMID:22454520
NCBI chr20:41,137,543...41,177,626
Ensembl chr20:41,136,960...41,196,801
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SNCA
synuclein alpha
involved_in
IDA
(PMID:15641770)
UniProt
PMID:15641770
NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
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SRI
sorcin
involved_in
IEA ISS
Ensembl BHF-UCL
GO_REF:0000024 GO_REF:0000107
NCBI chr 7:88,205,115...88,226,976
Ensembl chr 7:88,205,115...88,226,993
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THY1
Thy-1 cell surface antigen
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr11:119,415,476...119,424,985
Ensembl chr11:119,415,476...119,424,985
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TRDN
triadin
ISO
RGD
PMID:21811790
RGD:7327228
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
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TRPC1
transient receptor potential cation channel subfamily C member 1
involved_in
IDA
(PMID:19052258)
BHF-UCL
PMID:19052258
NCBI chr 3:142,724,034...142,807,888
Ensembl chr 3:142,724,034...142,807,888
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XCL1
X-C motif chemokine ligand 1
involved_in
IDA
(PMID:7602097)
BHF-UCL
PMID:7602097
NCBI chr 1:168,576,605...168,582,069
Ensembl chr 1:168,576,605...168,582,069
G
DRD2
dopamine receptor D2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
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EDN1
endothelin 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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NPPB
natriuretic peptide B
involved_in
TAS
(PMID:14960748)
UniProt
PMID:14960748
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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NPR1
natriuretic peptide receptor 1
involved_in
TAS
(PMID:14960748)
UniProt
PMID:14960748
NCBI chr 1:153,678,688...153,693,992
Ensembl chr 1:153,678,688...153,693,992
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JPH2
junctophilin 2
involved_in
IDA
(PMID:20095964)
UniProt
PMID:20095964
NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188
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FKBP1B
FKBP prolyl isomerase 1B
involved_in
IDA
(PMID:12443530)
BHF-UCL
PMID:12443530
NCBI chr 2:24,033,206...24,063,681
Ensembl chr 2:24,049,701...24,063,681
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MTLN
mitoregulin
involved_in
IDA IBA IEA
(PMID:29949756)
UniProt GO_Central Ensembl
PMID:29949756
GO_REF:0000033 GO_REF:0000107
NCBI chr 2:110,211,529...110,212,547
Ensembl chr 2:110,211,529...110,245,420
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RYR2
ryanodine receptor 2
involved_in
IDA
(PMID:12443530), (PMID:12919952)
BHF-UCL
PMID:12443530 PMID:12919952
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
G
GSTO1
glutathione S-transferase omega 1
involved_in
IDA
(PMID:11035031)
BHF-UCL
PMID:11035031
NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
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ATP12A
ATPase H+/K+ transporting non-gastric alpha2 subunit
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr13:24,680,408...24,712,472
Ensembl chr13:24,680,408...24,712,472
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ATP6V1B1
ATPase H+ transporting V1 subunit B1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
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CYP11B2
cytochrome P450 family 11 subfamily B member 2
involved_in
IMP
(PMID:9838244)
BHF-UCL
PMID:9838244
NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
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KCNA5
potassium voltage-gated channel subfamily A member 5
involved_in
ISO IEA
RGD Ensembl
PMID:12127166
GO_REF:0000107 RGD:1581351
NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
G
KCNH2
potassium voltage-gated channel subfamily H member 2
involved_in
IDA
(PMID:7604285), (PMID:8587608)
BHF-UCL
PMID:7604285 PMID:8587608
NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
G
KCNJ10
potassium inwardly rectifying channel subfamily J member 10
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483
G
KCNQ1
potassium voltage-gated channel subfamily Q member 1
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
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KLHL3
kelch like family member 3
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 5:137,617,500...137,736,089
Ensembl chr 5:137,617,500...137,736,089
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NR3C2
nuclear receptor subfamily 3 group C member 2
involved_in
ISO
(PMID:24206662)
MGI
PMID:24206662
NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698
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SCNN1B
sodium channel epithelial 1 subunit beta
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
G
SLC12A1
solute carrier family 12 member 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
G
SLC12A2
solute carrier family 12 member 2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
G
SLC12A3
solute carrier family 12 member 3
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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SLC12A4
solute carrier family 12 member 4
involved_in
ISS IBA
UniProt GO_Central
GO_REF:0000024 GO_REF:0000033
NCBI chr16:67,943,474...67,968,694
Ensembl chr16:67,943,474...67,969,601
G
SLC12A5
solute carrier family 12 member 5
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150
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SLC12A6
solute carrier family 12 member 6
involved_in
ISS IBA IEA
UniProt GO_Central Ensembl
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
G
SLC12A7
solute carrier family 12 member 7
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 5:1,050,384...1,155,899
Ensembl chr 5:1,050,384...1,112,063
G
SLC12A8
solute carrier family 12 member 8
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 3:125,082,644...125,212,748
Ensembl chr 3:125,082,636...125,212,864
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SLC12A9
solute carrier family 12 member 9
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 7:100,826,869...100,867,012
Ensembl chr 7:100,826,820...100,867,010
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UMOD
uromodulin
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
G
UPK3A
uroplakin 3A
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr22:45,284,949...45,295,874
Ensembl chr22:45,284,949...45,295,874
G
WNK1
WNK lysine deficient protein kinase 1
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452
G
CYBRD1
cytochrome b reductase 1
involved_in
IC
(PMID:30272000)
UniProt
PMID:30272000
NCBI chr 2:171,522,233...171,558,129
Ensembl chr 2:171,522,247...171,558,129
G
ANK2
ankyrin 2
involved_in
IGI ISS
(PMID:17178715) (PMID:21859974)
BHF-UCL
PMID:17178715 PMID:21859974
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
G
ASPH
aspartate beta-hydroxylase
involved_in
TAS
(PMID:15041652), (PMID:22123818)
BHF-UCL
PMID:15041652 PMID:22123818
NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
G
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
involved_in
TAS
(PMID:23608603)
BHF-UCL
PMID:23608603
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
G
CACNA1C
calcium voltage-gated channel subunit alpha1 C
involved_in
ISS TAS
(PMID:11576544)
UniProt BHF-UCL
PMID:11576544
GO_REF:0000024
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
G
CALM1
calmodulin 1
involved_in
IC IDA
(PMID:20226167)
BHF-UCL
PMID:20226167
GO_REF:0000036
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
G
CALM2
calmodulin 2
involved_in
IC IDA
(PMID:20226167)
BHF-UCL
PMID:20226167
GO_REF:0000036
NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
G
CALM3
calmodulin 3
involved_in
IC IDA
(PMID:20226167)
BHF-UCL
PMID:20226167
GO_REF:0000036
NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
G
CAMK2D
calcium/calmodulin dependent protein kinase II delta
involved_in
TAS IC
(PMID:17157285) (PMID:12676813)
UniProt BHF-UCL
PMID:12676813 PMID:17157285
NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
G
CASQ2
calsequestrin 2
involved_in acts_upstream_of_or_within
IMP ISS IDA ISO IBA
(PMID:16601229), (PMID:16908766) (PMID:9525981)
BHF-UCL MGI GO_Central
PMID:9525981 PMID:16601229 PMID:16908766
GO_REF:0000024 GO_REF:0000033
NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921
G
CLIC2
chloride intracellular channel 2
involved_in
IDA
(PMID:15147738)
BHF-UCL
PMID:15147738
NCBI chr X:155,276,211...155,334,614
Ensembl chr X:155,276,211...155,334,657
G
DMD
dystrophin
involved_in
ISS
(PMID:20080623)
BHF-UCL
PMID:20080623
NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
G
FKBP1A
FKBP prolyl isomerase 1A
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr20:1,368,978...1,393,054
Ensembl chr20:1,368,977...1,393,164
G
FKBP1B
FKBP prolyl isomerase 1B
involved_in
ISS IBA TAS IDA IEA
(PMID:22087651) (PMID:20431056), (PMID:7592869)
BHF-UCL GO_Central Ensembl
PMID:7592869 PMID:20431056 PMID:22087651
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr 2:24,033,206...24,063,681
Ensembl chr 2:24,049,701...24,063,681
G
GSTM2
glutathione S-transferase mu 2
involved_in
IC IDA
(PMID:22406107) (PMID:17023043)
BHF-UCL
PMID:17023043 PMID:22406107
NCBI chr 1:109,668,057...109,683,997
Ensembl chr 1:109,668,022...109,709,551
G
GSTO1
glutathione S-transferase omega 1
involved_in
IDA
(PMID:11035031)
BHF-UCL
PMID:11035031
NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
G
HRC
histidine rich calcium binding protein
involved_in
TAS
(PMID:17526652)
BHF-UCL
PMID:17526652
NCBI chr19:49,151,198...49,155,396
Ensembl chr19:49,151,198...49,155,396
G
MIR1-1
microRNA 1-1
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr20:62,554,306...62,554,376
Ensembl chr20:62,554,306...62,554,376
G
MIR1-2
microRNA 1-2
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr18:21,829,004...21,829,088
Ensembl chr18:21,829,004...21,829,088
G
MIR133A1
microRNA 133a-1
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr18:21,825,698...21,825,785
Ensembl chr18:21,825,698...21,825,785
G
MIR133A2
microRNA 133a-2
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr20:62,564,912...62,565,013
Ensembl chr20:62,564,912...62,565,013
G
PLN
phospholamban
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
G
PRKACA
protein kinase cAMP-activated catalytic subunit alpha
involved_in
TAS
(PMID:23507255)
BHF-UCL
PMID:23507255
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
G
RYR2
ryanodine receptor 2
involved_in
ISS IMP IDA IEA
(PMID:17875969) (PMID:19220289)
BHF-UCL Ensembl
PMID:17875969 PMID:19220289
GO_REF:0000024 GO_REF:0000107
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
G
SLC8A1
solute carrier family 8 member A1
involved_in
ISS TAS
(PMID:23608603)
BHF-UCL
PMID:23608603
GO_REF:0000024
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
G
TMEM38A
transmembrane protein 38A
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr19:16,661,139...16,690,023
Ensembl chr19:16,661,139...16,690,023
G
TMEM38B
transmembrane protein 38B
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629
G
TRDN
triadin
involved_in
TAS
(PMID:17569730)
BHF-UCL
PMID:17569730
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
G
ATP1A4
ATPase Na+/K+ transporting subunit alpha 4
involved_in
ISO IDA
(PMID:12112599)
RGD UniProt
PMID:12112599
RGD:728364
NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...160,186,980
G
ATP6AP1
ATPase H+ transporting accessory protein 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
G
GPR39
G protein-coupled receptor 39
acts_upstream_of_or_within
ISO
(PMID:26375174)
MGI
PMID:26375174
NCBI chr 2:132,416,805...132,646,582
Ensembl chr 2:132,416,805...132,646,582
G
LACC1
laccase domain containing 1
involved_in
IDA
(PMID:31978345)
UniProt
PMID:31978345
NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932
G
MAFG
MAF bZIP transcription factor G
ISO
RGD
PMID:11583919
RGD:633304
NCBI chr17:81,918,270...81,931,244
Ensembl chr17:81,918,270...81,927,735
G
MAPK1
mitogen-activated protein kinase 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
G
MAPK3
mitogen-activated protein kinase 3
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
G
SLC4A10
solute carrier family 4 member 10
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282
G
ADCY8
adenylate cyclase 8
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:130,780,301...131,040,909
Ensembl chr 8:130,780,301...131,040,909
G
ASPH
aspartate beta-hydroxylase
involved_in
ISO IBA
RGD GO_Central
PMID:17150191
GO_REF:0000033 RGD:2325826
NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
G
ATP2B1
ATPase plasma membrane Ca2+ transporting 1
involved_in
IEA IBA IDA
(PMID:18029012)
Ensembl GO_Central SynGO-UCL
PMID:18029012
GO_REF:0000033 GO_REF:0000107
NCBI chr12:89,588,049...89,709,366
Ensembl chr12:89,588,049...89,709,366
G
ATP2B2
ATPase plasma membrane Ca2+ transporting 2
involved_in
IMP IBA
(PMID:17234811)
DFLAT GO_Central
PMID:17234811
GO_REF:0000033
NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007
G
ATP2B3
ATPase plasma membrane Ca2+ transporting 3
involved_in
IDA IBA
(PMID:18029012)
SynGO-UCL GO_Central
PMID:18029012
GO_REF:0000033
NCBI chr X:153,517,642...153,582,929
Ensembl chr X:153,517,642...153,582,939
G
ATP2B4
ATPase plasma membrane Ca2+ transporting 4
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 1:203,626,832...203,744,081
Ensembl chr 1:203,626,832...203,744,081
G
BOK
BCL2 family apoptosis regulator BOK
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:241,551,393...241,574,131
Ensembl chr 2:241,551,424...241,574,131
G
CALCA
calcitonin related polypeptide alpha
involved_in
IDA IBA
(PMID:9685362)
UniProt GO_Central
PMID:9685362
GO_REF:0000033
NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
G
CALCB
calcitonin related polypeptide beta
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr11:15,073,593...15,078,637
Ensembl chr11:14,904,997...15,082,342
G
CAV1
caveolin 1
involved_in
IDA IBA
(PMID:19052258)
BHF-UCL GO_Central
PMID:19052258
GO_REF:0000033
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
G
CAV2
caveolin 2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 7:116,499,738...116,508,541
Ensembl chr 7:116,287,380...116,508,541
G
CAV3
caveolin 3
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
G
CDH23
cadherin related 23
involved_in
IMP
(PMID:17234811)
DFLAT
PMID:17234811
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
G
CHGA
chromogranin A
ISO
RGD
PMID:22459152
RGD:6906968
NCBI chr14:92,922,664...92,935,285
Ensembl chr14:92,923,150...92,935,285
G
CLN3
CLN3 lysosomal/endosomal transmembrane protein, battenin
involved_in acts_upstream_of_or_within
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575
G
CNGA1
cyclic nucleotide gated channel subunit alpha 1
ISO
RGD
PMID:21809342
RGD:6902901
NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681
G
CNGB1
cyclic nucleotide gated channel subunit beta 1
involved_in
ISO IEA
RGD Ensembl
PMID:21809342
GO_REF:0000107 RGD:6902901
NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128
G
CUL5
cullin 5
ISO
RGD
PMID:11409851
RGD:2301450
NCBI chr11:108,008,898...108,107,761
Ensembl chr11:108,008,898...108,107,761
G
F2
coagulation factor II, thrombin
involved_in
IDA
(PMID:19052258)
BHF-UCL
PMID:19052258
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
G
FTO
FTO alpha-ketoglutarate dependent dioxygenase
ISO
RGD
PMID:30835997
RGD:329951018
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
G
FXN
frataxin
ISO
RGD
PMID:24242291
RGD:401793716
NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
G
FXYD1
FXYD domain containing ion transport regulator 1
ISO
RGD
PMID:14684371
RGD:9685468
NCBI chr19:35,137,188...35,143,109
Ensembl chr19:35,138,824...35,143,109
G
FZD9
frizzled class receptor 9
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 7:73,433,778...73,436,120
Ensembl chr 7:73,433,778...73,436,120
G
GPER1
G protein-coupled estrogen receptor 1
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 7:1,087,118...1,093,810
Ensembl chr 7:1,082,208...1,093,815
G
GPR3
G protein-coupled receptor 3
ISO
RGD
PMID:12220620
RGD:632931
NCBI chr 1:27,392,622...27,395,814
Ensembl chr 1:27,392,622...27,395,814
G
HCRTR1
hypocretin receptor 1
involved_in
IDA
(PMID:26950369)
UniProt
PMID:26950369
NCBI chr 1:31,617,689...31,634,492
Ensembl chr 1:31,617,686...31,632,518
G
HCRTR2
hypocretin receptor 2
involved_in
IDA
(PMID:26950369)
UniProt
PMID:26950369
NCBI chr 6:55,106,469...55,284,713
Ensembl chr 6:55,106,460...55,282,617
G
HRC
histidine rich calcium binding protein
involved_in
IGI
(PMID:24125847)
BHF-UCL
PMID:24125847
NCBI chr19:49,151,198...49,155,396
Ensembl chr19:49,151,198...49,155,396
G
ITPR1
inositol 1,4,5-trisphosphate receptor type 1
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
G
MYH7B
myosin heavy chain 7B
involved_in
ISO IEA
RGD Ensembl
PMID:32207065
GO_REF:0000107 RGD:126925946
NCBI chr20:34,955,868...35,002,437
Ensembl chr20:34,955,810...35,002,437
G
NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
RGD
PMID:31329835
RGD:597015744
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
G
PLN
phospholamban
involved_in
IDA
(PMID:19708671)
BHF-UCL
PMID:19708671
NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
G
RYR1
ryanodine receptor 1
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
G
RYR2
ryanodine receptor 2
involved_in
ISO ISS
RGD BHF-UCL
PMID:15870112
GO_REF:0000024 RGD:1599253
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
G
SLC35G1
solute carrier family 35 member G1
involved_in
IMP IBA
(PMID:22084111)
UniProt GO_Central
PMID:22084111
GO_REF:0000033
NCBI chr10:93,893,978...93,909,830
Ensembl chr10:93,893,973...93,956,062
G
SLC8A2
solute carrier family 8 member A2
acts_upstream_of_or_within
ISS IEA
ARUK-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr19:47,428,017...47,471,893
Ensembl chr19:47,428,017...47,471,893
G
SLC8B1
solute carrier family 8 member B1
involved_in
IMP IEA
(PMID:20018762)
BHF-UCL Ensembl
PMID:20018762
GO_REF:0000107
NCBI chr12:113,298,771...113,335,109
Ensembl chr12:113,298,759...113,359,493
G
TEX101
testis expressed 101
ISO
RGD
PMID:11809740
RGD:634491
NCBI chr19:43,388,611...43,418,597
Ensembl chr19:43,401,496...43,418,597
G
TMEM178A
transmembrane protein 178A
involved_in
IEA IBA ISS
Ensembl GO_Central UniProt
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr 2:39,665,483...39,735,960
Ensembl chr 2:39,664,982...39,717,963
G
TMEM64
transmembrane protein 64
involved_in acts_upstream_of_or_within
IBA IEA
GO_Central Ensembl
GO_REF:0000033 GO_REF:0000107
NCBI chr 8:90,621,995...90,646,083
Ensembl chr 8:90,621,995...90,791,632
G
TRPC1
transient receptor potential cation channel subfamily C member 1
involved_in
IDA IBA
(PMID:19052258)
BHF-UCL GO_Central
PMID:19052258
GO_REF:0000033
NCBI chr 3:142,724,034...142,807,888
Ensembl chr 3:142,724,034...142,807,888
G
TRPC3
transient receptor potential cation channel subfamily C member 3
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 4:121,874,481...121,952,060
Ensembl chr 4:121,874,481...121,952,060
G
TRPC4
transient receptor potential cation channel subfamily C member 4
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr13:37,632,063...37,869,772
Ensembl chr13:37,632,063...37,869,802
G
TRPC5
transient receptor potential cation channel subfamily C member 5
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr X:111,768,011...112,082,776
Ensembl chr X:111,768,011...112,082,776
G
TRPC6
transient receptor potential cation channel subfamily C member 6
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
G
TRPC7
transient receptor potential cation channel subfamily C member 7
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 5:136,212,745...136,365,545
Ensembl chr 5:136,212,745...136,365,545
G
TUNAR
transmembrane neural differentiation associated intracellular calcium regulator
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr14:95,876,448...95,925,571
Ensembl chr14:95,866,587...95,925,663
G
WBP2NL
WBP2 N-terminal like
NOT|involved_in
IDA
(PMID:26116451)
UniProt
PMID:26116451
NCBI chr22:41,998,788...42,058,371
Ensembl chr22:41,998,725...42,058,456
G
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
involved_in
IDA
(PMID:18029012)
SynGO-UCL
PMID:18029012
NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222
G
SLC9A7
solute carrier family 9 member A7
involved_in
IMP
(PMID:30335141)
UniProt
PMID:30335141
NCBI chr X:46,599,251...46,759,118
Ensembl chr X:46,599,251...46,759,118
G
SLC9A8
solute carrier family 9 member A8
involved_in
IDA
(PMID:15522866)
UniProt
PMID:15522866
NCBI chr20:49,812,828...49,892,242
Ensembl chr20:49,812,713...49,892,242
G
ASPH
aspartate beta-hydroxylase
involved_in
IDA
(PMID:21062895)
UniProt
PMID:21062895
NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
G
MYO5A
myosin VA
acts_upstream_of_or_within
ISO
(PMID:11086997)
MGI
PMID:11086997
NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132
G
ATP5F1B
ATP synthase F1 subunit beta
involved_in
IMP
(PMID:17510399)
UniProt
PMID:17510399
NCBI chr12:56,638,175...56,645,984
Ensembl chr12:56,638,175...56,645,984
G
CA2
carbonic anhydrase 2
involved_in
ISS IBA IEA
UniProt GO_Central Ensembl
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
G
CA7
carbonic anhydrase 7
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:66,844,414...66,854,147
Ensembl chr16:66,844,414...66,854,153
G
CHP1
calcineurin like EF-hand protein 1
involved_in
IDA
(PMID:15035633), (PMID:8901634)
UniProt
PMID:8901634 PMID:15035633
NCBI chr15:41,231,268...41,281,887
Ensembl chr15:41,230,839...41,281,887
G
CLCNKB
chloride voltage-gated channel Kb
involved_in
ISO
(PMID:35349181)
UniProt
PMID:35349181
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
G
HVCN1
hydrogen voltage gated channel 1
involved_in
ISO IEA IMP ISS
(PMID:20548053)
RGD Ensembl UniProt
PMID:20548053 PMID:24935944
GO_REF:0000024 GO_REF:0000107 RGD:14985214
NCBI chr12:110,648,686...110,704,952
Ensembl chr12:110,627,841...110,704,950
G
SLC26A6
solute carrier family 26 member 6
involved_in
IDA IMP IEA
(PMID:15990874) (PMID:20501439)
UniProt Ensembl
PMID:15990874 PMID:20501439
GO_REF:0000107
NCBI chr 3:48,625,723...48,635,461
Ensembl chr 3:48,625,723...48,635,493
G
SLC4A1
solute carrier family 4 member 1 (Diego blood group)
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
G
SLC4A10
solute carrier family 4 member 10
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282
G
SLC4A2
solute carrier family 4 member 2
involved_in
ISO IBA IEA
RGD GO_Central Ensembl
PMID:16440368
GO_REF:0000033 GO_REF:0000107 RGD:9999231
NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526
G
SLC4A3
solute carrier family 4 member 3
involved_in acts_upstream_of_or_within
IBA IEA
GO_Central Ensembl
GO_REF:0000033 GO_REF:0000107
NCBI chr 2:219,627,630...219,641,971
Ensembl chr 2:219,627,394...219,641,980
G
SLC4A4
solute carrier family 4 member 4
involved_in acts_upstream_of
IMP IBA ISS IGI IDA
(PMID:24453308) (PMID:21976511) (PMID:10069984)
ARUK-UCL GO_Central
PMID:10069984 PMID:21976511 PMID:24453308
GO_REF:0000033
NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087
G
SLC4A5
solute carrier family 4 member 5
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 2:74,216,242...74,343,416
Ensembl chr 2:74,216,242...74,343,416
G
SLC4A7
solute carrier family 4 member 7
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 3:27,372,723...27,484,384
Ensembl chr 3:27,372,723...27,484,420
G
SLC4A8
solute carrier family 4 member 8
acts_upstream_of_or_within involved_in
IDA IEA IBA ISS
(PMID:11133997), (PMID:18577713)
ARUK-UCL Ensembl GO_Central
PMID:11133997 PMID:18577713
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr12:51,391,446...51,515,763
Ensembl chr12:51,391,317...51,515,763
G
SLC4A9
solute carrier family 4 member 9
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 5:140,360,194...140,375,141
Ensembl chr 5:140,360,194...140,375,141
G
SLC9A1
solute carrier family 9 member A1
involved_in
ISO IBA IEA IDA
(PMID:15035633), (PMID:24840010)
RGD GO_Central Ensembl BHF-UCL
PMID:15035633 PMID:22387884 PMID:24840010
GO_REF:0000033 GO_REF:0000107 RGD:6771326
NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
G
SLC9A2
solute carrier family 9 member A2
involved_in
IEA IBA
Ensembl GO_Central
GO_REF:0000033 GO_REF:0000107
NCBI chr 2:102,619,553...102,711,355
Ensembl chr 2:102,619,553...102,711,355
G
SLC9A3
solute carrier family 9 member A3
involved_in
IDA IBA
(PMID:35613257)
UniProt GO_Central
PMID:35613257
GO_REF:0000033
NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
G
SLC9A4
solute carrier family 9 member A4
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 2:102,473,226...102,533,972
Ensembl chr 2:102,473,226...102,533,972
G
SLC9A5
solute carrier family 9 member A5
involved_in
IDA IBA
(PMID:24936055)
UniProt GO_Central
PMID:24936055
GO_REF:0000033
NCBI chr16:67,248,979...67,272,191
Ensembl chr16:67,237,683...67,272,191
G
SLC9A6
solute carrier family 9 member A6
involved_in
IMP IBA IDA IEA
(PMID:30296617) (PMID:28635961)
UniProt GO_Central Ensembl
PMID:28635961 PMID:30296617
GO_REF:0000033 GO_REF:0000107
NCBI chr X:135,973,837...136,047,269
Ensembl chr X:135,973,841...136,047,269
G
SLC9A7
solute carrier family 9 member A7
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr X:46,599,251...46,759,118
Ensembl chr X:46,599,251...46,759,118
G
SLC9A8
solute carrier family 9 member A8
involved_in
IMP IBA IEA
(PMID:34288721)
UniProt GO_Central Ensembl
PMID:34288721
GO_REF:0000033 GO_REF:0000107
NCBI chr20:49,812,828...49,892,242
Ensembl chr20:49,812,713...49,892,242
G
SLC9A9
solute carrier family 9 member A9
involved_in
IEA IBA IDA
(PMID:15522866), (PMID:24065030)
Ensembl GO_Central UniProt
PMID:15522866 PMID:24065030
GO_REF:0000033 GO_REF:0000107
NCBI chr 3:143,265,222...143,848,468
Ensembl chr 3:143,265,222...143,848,485
G
SLC9B1
solute carrier family 9 member B1
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 4:102,885,049...103,019,705
Ensembl chr 4:102,885,048...103,019,719
G
SLC9C1
solute carrier family 9 member C1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 3:112,140,898...112,294,216
Ensembl chr 3:112,140,898...112,294,227
G
SLC9C2
solute carrier family 9 member C2 (putative)
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 1:173,500,460...173,603,072
Ensembl chr 1:173,500,460...173,603,072
G
TM9SF4
transmembrane 9 superfamily member 4
involved_in
IMP
(PMID:19893578)
UniProt
PMID:19893578
NCBI chr20:32,109,714...32,167,256
Ensembl chr20:32,109,714...32,167,258
G
TP53
tumor protein p53
ISO
RGD
PMID:16688778
RGD:1598619
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
G
LRRK2
leucine rich repeat kinase 2
involved_in
IMP
(PMID:22012985)
ParkinsonsUK-UCL
PMID:22012985
NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
G
SPNS1
SPNS lysolipid transporter 1, lysophospholipid
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:28,974,778...28,984,765
Ensembl chr16:28,974,221...28,984,548
G
TASL
TLR adaptor interacting with endolysosomal SLC15A4
involved_in
IDA IBA
(PMID:31001245)
UniProt GO_Central
PMID:31001245
GO_REF:0000033
NCBI chr X:30,558,809...30,577,766
Ensembl chr X:30,558,809...30,577,766
G
TMEM165
transmembrane protein 165
involved_in
IMP
(PMID:23569283)
UniProt
PMID:23569283
NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397
G
TMEM175
transmembrane protein 175
involved_in
IEA IDA
(PMID:35750034)
Ensembl UniProt
PMID:35750034
GO_REF:0000107
NCBI chr 4:932,460...958,656
Ensembl chr 4:932,387...958,656
G
VPS33A
VPS33A core subunit of CORVET and HOPS complexes
involved_in
IMP
(PMID:28013294)
UniProt
PMID:28013294
NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502
G
AGTR1
angiotensin II receptor type 1
ISO
RGD
PMID:11906170
RGD:70819
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
G
ATP12A
ATPase H+/K+ transporting non-gastric alpha2 subunit
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr13:24,680,408...24,712,472
Ensembl chr13:24,680,408...24,712,472
G
ATP6V0A4
ATPase H+ transporting V0 subunit a4
involved_in
IMP
(PMID:10973252)
HGNC-UCL
PMID:10973252
NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560
G
ATP6V1B1
ATPase H+ transporting V1 subunit B1
acts_upstream_of_or_within involved_in
IMP IEA
(PMID:9916796) (PMID:12414817)
MGI Ensembl HGNC-UCL
PMID:9916796 PMID:12414817
GO_REF:0000107
NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
G
CLCN3
chloride voltage-gated channel 3
involved_in
TAS
(PMID:12471024)
UniProt
PMID:12471024
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
G
EDN1
endothelin 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
G
EDNRB
endothelin receptor type B
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529
G
KCNJ16
potassium inwardly rectifying channel subfamily J member 16
ISO
RGD
PMID:30605394
RGD:38500203
NCBI chr17:70,075,225...70,135,608
Ensembl chr17:70,053,429...70,135,608
G
PDK2
pyruvate dehydrogenase kinase 2
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr17:50,094,737...50,112,152
Ensembl chr17:50,094,737...50,112,152
G
PDK4
pyruvate dehydrogenase kinase 4
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 7:95,583,499...95,596,516
Ensembl chr 7:95,583,499...95,596,516
G
RHCG
Rh family C glycoprotein
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr15:89,471,407...89,496,583
Ensembl chr15:89,471,398...89,496,589
G
ROGDI
rogdi atypical leucine zipper
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880
G
SLC26A4
solute carrier family 26 member 4
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
G
SLC26A9
solute carrier family 26 member 9
acts_upstream_of_or_within
ISO
(PMID:15800055)
MGI
PMID:15800055
NCBI chr 1:205,913,052...205,943,456
Ensembl chr 1:205,913,048...205,943,460
G
SLC4A10
solute carrier family 4 member 10
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282
G
SLC9A1
solute carrier family 9 member A1
involved_in acts_upstream_of_or_within
IDA IEA TAS
(PMID:8901634) (PMID:8283968)
UniProt Ensembl InterPro
PMID:8283968 PMID:8901634
GO_REF:0000002 GO_REF:0000107
NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
G
SLC9A2
solute carrier family 9 member A2
involved_in acts_upstream_of_or_within
IEA
InterPro Ensembl
GO_REF:0000002 GO_REF:0000107
NCBI chr 2:102,619,553...102,711,355
Ensembl chr 2:102,619,553...102,711,355
G
SLC9A3
solute carrier family 9 member A3
acts_upstream_of_or_within involved_in
ISO IEA
(PMID:10666043)
RGD MGI InterPro
PMID:10666043 PMID:15265811
GO_REF:0000002 RGD:1625070
NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
G
SLC9A4
solute carrier family 9 member A4
involved_in
IEA
InterPro
GO_REF:0000002
NCBI chr 2:102,473,226...102,533,972
Ensembl chr 2:102,473,226...102,533,972
G
SLC9A5
solute carrier family 9 member A5
involved_in
IEA
InterPro
GO_REF:0000002
NCBI chr16:67,248,979...67,272,191
Ensembl chr16:67,237,683...67,272,191
G
SLC9A6
solute carrier family 9 member A6
involved_in
IEA
InterPro
GO_REF:0000002
NCBI chr X:135,973,837...136,047,269
Ensembl chr X:135,973,841...136,047,269
G
SLC9A7
solute carrier family 9 member A7
involved_in
IEA IDA
(PMID:11279194)
InterPro UniProt
PMID:11279194
GO_REF:0000002
NCBI chr X:46,599,251...46,759,118
Ensembl chr X:46,599,251...46,759,118
G
SLC9A8
solute carrier family 9 member A8
involved_in
IEA
InterPro
GO_REF:0000002
NCBI chr20:49,812,828...49,892,242
Ensembl chr20:49,812,713...49,892,242
G
SLC9A9
solute carrier family 9 member A9
involved_in
IEA
InterPro
GO_REF:0000002
NCBI chr 3:143,265,222...143,848,468
Ensembl chr 3:143,265,222...143,848,485
G
WDR72
WD repeat domain 72
acts_upstream_of_or_within
ISO
(PMID:35181734)
MGI
PMID:35181734
NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878
G
ATP2B2
ATPase plasma membrane Ca2+ transporting 2
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007
G
CALB1
calbindin 1
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr 8:90,058,608...90,082,879
Ensembl chr 8:90,058,608...90,095,475
G
FZD9
frizzled class receptor 9
involved_in
ISO
PMID:27402827
SynGO
PMID:27402827
RGD:13702305
NCBI chr 7:73,433,778...73,436,120
Ensembl chr 7:73,433,778...73,436,120
G
GRID2IP
Grid2 interacting protein
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:6,496,778...6,551,461
Ensembl chr 7:6,496,778...6,551,461
G
GRM1
glutamate metabotropic receptor 1
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601
G
GRM5
glutamate metabotropic receptor 5
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr11:88,504,642...89,065,982
Ensembl chr11:88,504,576...89,065,982
G
ITPR1
inositol 1,4,5-trisphosphate receptor type 1
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
G
MYO5A
myosin VA
involved_in
ISO
(PMID:21151132)
SynGO
PMID:21151132
NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132
G
SLC8A2
solute carrier family 8 member A2
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr19:47,428,017...47,471,893
Ensembl chr19:47,428,017...47,471,893
G
SLC8A3
solute carrier family 8 member A3
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr14:70,044,215...70,189,405
Ensembl chr14:70,044,215...70,189,480
G
SYNPO
synaptopodin
involved_in
ISO
(PMID:25164660)
SynGO
PMID:25164660
NCBI chr 5:150,586,010...150,659,207
Ensembl chr 5:150,601,080...150,659,207
G
WNT5A
Wnt family member 5A
involved_in
IMP IDA
(PMID:27402827)
SynGO
PMID:27402827
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
G
ADORA1
adenosine A1 receptor
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405
G
ATP2B3
ATPase plasma membrane Ca2+ transporting 3
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr X:153,517,642...153,582,929
Ensembl chr X:153,517,642...153,582,939
G
CACNB2
calcium voltage-gated channel auxiliary subunit beta 2
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
G
CACNB4
calcium voltage-gated channel auxiliary subunit beta 4
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,771...152,099,167
G
CALB1
calbindin 1
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr 8:90,058,608...90,082,879
Ensembl chr 8:90,058,608...90,095,475
G
CALB2
calbindin 2
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr16:71,358,723...71,390,433
Ensembl chr16:71,358,713...71,390,436
G
CDK5
cyclin dependent kinase 5
involved_in
ISO
PMID:23699505
SynGO
PMID:23699505
RGD:13792535
NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
G
CNR1
cannabinoid receptor 1
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
G
ERC1
ELKS/RAB6-interacting/CAST family member 1
involved_in
ISO
(PMID:25209271)
SynGO
PMID:25209271
NCBI chr12:989,959...1,495,933
Ensembl chr12:990,509...1,495,933
G
ERC2
ELKS/RAB6-interacting/CAST family member 2
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:55,508,311...56,468,467
Ensembl chr 3:55,508,311...56,469,095
G
KCNH1
potassium voltage-gated channel subfamily H member 1
involved_in
ISO
(PMID:25556795)
SynGO
PMID:25556795
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
G
MARCKSL1
MARCKS like 1
involved_in
ISO
PMID:16987251
SynGO
PMID:16987251
RGD:13792524
NCBI chr 1:32,333,839...32,336,233
Ensembl chr 1:32,333,839...32,336,233
G
NCS1
neuronal calcium sensor 1
involved_in
ISO
PMID:11910115
SynGO
PMID:11910115
RGD:13702284
NCBI chr 9:130,172,404...130,237,303
Ensembl chr 9:130,172,404...130,237,303
G
NPY
neuropeptide Y
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
G
NPY1R
neuropeptide Y receptor Y1
involved_in
ISO
PMID:16026936
SynGO
PMID:16026936
RGD:155230755
NCBI chr 4:163,323,962...163,344,689
Ensembl chr 4:163,323,962...163,344,832
G
OSBPL2
oxysterol binding protein like 2
involved_in
ISO
(PMID:36577376)
SynGO
PMID:36577376
NCBI chr20:62,228,243...62,236,301
Ensembl chr20:62,231,922...62,296,213
G
OSBPL2
oxysterol binding protein like 2
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr20:62,238,521...62,296,183
Ensembl chr20:62,231,922...62,296,213
G
P2RX1
purinergic receptor P2X 1
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr17:3,896,592...3,916,465
Ensembl chr17:3,896,592...3,916,476
G
P2RX2
purinergic receptor P2X 2
involved_in
ISO
PMID:16000618
SynGO
PMID:16000618
RGD:1581702
NCBI chr12:132,618,776...132,622,388
Ensembl chr12:132,618,776...132,622,388
G
P2RY1
purinergic receptor P2Y1
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:152,835,131...152,841,439
Ensembl chr 3:152,835,131...152,841,439
G
P2RY2
purinergic receptor P2Y2
involved_in
ISO
PMID:16000618
SynGO
PMID:16000618
RGD:1581702
NCBI chr11:73,218,281...73,242,427
Ensembl chr11:73,218,281...73,242,427
G
P2RY4
pyrimidinergic receptor P2Y4
involved_in
ISO
PMID:16000618
SynGO
PMID:16000618
RGD:1581702
NCBI chr X:70,258,166...70,260,204
Ensembl chr X:70,258,166...70,260,204
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SV2B
synaptic vesicle glycoprotein 2B
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr15:91,099,588...91,302,565
Ensembl chr15:91,099,950...91,302,565
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TSPOAP1
TSPO associated protein 1
involved_in
IEA
GOC
GO_REF:0000108
NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795
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ANK2
ankyrin 2
involved_in
IGI
(PMID:17242276)
BHF-UCL
PMID:17242276
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
G
ATG5
autophagy related 5
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:106,184,476...106,325,760
Ensembl chr 6:106,045,423...106,325,791
G
CORO1A
coronin 1A
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076
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CYBA
cytochrome b-245 alpha chain
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
G
DIAPH1
diaphanous related formin 1
involved_in
IMP
(PMID:15123714)
BHF-UCL
PMID:15123714
NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055
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ITGB3
integrin subunit beta 3
involved_in
ISO IEA
RGD Ensembl
PMID:7689577
GO_REF:0000107 RGD:8693381
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
G
KCNK16
potassium two pore domain channel subfamily K member 16
involved_in
IMP
(PMID:34032641)
UniProt
PMID:34032641
NCBI chr 6:39,314,570...39,322,968
Ensembl chr 6:39,314,698...39,322,968
G
LIME1
Lck interacting transmembrane adaptor 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr20:63,735,701...63,739,103
Ensembl chr20:63,736,283...63,739,103
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LYN
LYN proto-oncogene, Src family tyrosine kinase
involved_in acts_upstream_of_or_within
ISO IEA
RGD Ensembl
PMID:16177098
GO_REF:0000107 RGD:1578516
NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
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MS4A2
membrane spanning 4-domains A2
ISO
RGD
PMID:16177098
RGD:1578516
NCBI chr11:60,088,259...60,098,467
Ensembl chr11:60,088,261...60,098,467
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NGF
nerve growth factor
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
G
PRKCE
protein kinase C epsilon
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:45,651,279...46,187,990
Ensembl chr 2:45,651,345...46,187,990
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PRKD1
protein kinase D1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898
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PTK2B
protein tyrosine kinase 2 beta
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:27,310,506...27,459,391
Ensembl chr 8:27,311,482...27,459,391
G
PTPN6
protein tyrosine phosphatase non-receptor type 6
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
G
TMEM38A
transmembrane protein 38A
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr19:16,661,139...16,690,023
Ensembl chr19:16,661,139...16,690,023
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TMEM38B
transmembrane protein 38B
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629
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UBASH3B
ubiquitin associated and SH3 domain containing B
involved_in acts_upstream_of_or_within
IBA IEA
GO_Central Ensembl
GO_REF:0000033 GO_REF:0000107
NCBI chr11:122,655,722...122,814,473
Ensembl chr11:122,655,722...122,814,473
G
AKAP6
A-kinase anchoring protein 6
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr14:32,329,298...32,837,684
Ensembl chr14:32,329,298...32,837,684
G
ASPH
aspartate beta-hydroxylase
involved_in
TAS
(PMID:15041652), (PMID:19567751)
BHF-UCL
PMID:15041652 PMID:19567751
NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
G
CALM1
calmodulin 1
involved_in
IDA
(PMID:20226167)
BHF-UCL
PMID:20226167
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
G
CALM2
calmodulin 2
involved_in
IDA
(PMID:20226167)
BHF-UCL
PMID:20226167
NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
G
CALM3
calmodulin 3
involved_in
IDA
(PMID:20226167)
BHF-UCL
PMID:20226167
NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
G
CAMK2D
calcium/calmodulin dependent protein kinase II delta
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
G
CASQ1
calsequestrin 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:160,190,575...160,201,886
Ensembl chr 1:160,190,575...160,201,886
G
CASQ2
calsequestrin 2
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921
G
CHD7
chromodomain helicase DNA binding protein 7
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
G
CLIC2
chloride intracellular channel 2
involved_in
IDA
(PMID:15147738), (PMID:15916532)
BHF-UCL
PMID:15147738 PMID:15916532
NCBI chr X:155,276,211...155,334,614
Ensembl chr X:155,276,211...155,334,657
G
DHRS7C
dehydrogenase/reductase 7C
involved_in acts_upstream_of_or_within
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr17:9,771,438...9,791,592
Ensembl chr17:9,771,434...9,791,592
G
DMD
dystrophin
involved_in
ISS
(PMID:20080623)
BHF-UCL
PMID:20080623
NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
G
FKBP1B
FKBP prolyl isomerase 1B
involved_in acts_upstream_of_or_within
IDA IEA
(PMID:20431056)
BHF-UCL Ensembl
PMID:20431056
GO_REF:0000107
NCBI chr 2:24,033,206...24,063,681
Ensembl chr 2:24,049,701...24,063,681
G
GSTM2
glutathione S-transferase mu 2
involved_in
IDA
(PMID:17023043)
BHF-UCL
PMID:17023043
NCBI chr 1:109,668,057...109,683,997
Ensembl chr 1:109,668,022...109,709,551
G
GSTO1
glutathione S-transferase omega 1
involved_in
IDA
(PMID:11035031)
BHF-UCL
PMID:11035031
NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
G
HRC
histidine rich calcium binding protein
involved_in
IGI
(PMID:24125847)
BHF-UCL
PMID:24125847
NCBI chr19:49,151,198...49,155,396
Ensembl chr19:49,151,198...49,155,396
G
JPH1
junctophilin 1
involved_in
TAS
(PMID:19095005)
BHF-UCL
PMID:19095005
NCBI chr 8:74,234,700...74,321,540
Ensembl chr 8:74,234,700...74,321,540
G
JPH2
junctophilin 2
involved_in
TAS
(PMID:19095005)
BHF-UCL
PMID:19095005
NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188
G
JPH3
junctophilin 3
involved_in
TAS
(PMID:19095005)
BHF-UCL
PMID:19095005
NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156
G
JPH4
junctophilin 4
involved_in
TAS
(PMID:19095005)
BHF-UCL
PMID:19095005
NCBI chr14:23,568,038...23,578,790
Ensembl chr14:23,568,038...23,578,790
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METTL21C
methyltransferase 21C, AARS1 lysine
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr13:102,685,747...102,704,300
Ensembl chr13:102,685,747...102,695,044
G
MIR1-1
microRNA 1-1
involved_in acts_upstream_of
IDA
(PMID:19131648)
BHF-UCL
PMID:19131648
NCBI chr20:62,554,306...62,554,376
Ensembl chr20:62,554,306...62,554,376
G
MIR1-2
microRNA 1-2
involved_in acts_upstream_of
IDA
(PMID:19131648)
BHF-UCL
PMID:19131648
NCBI chr18:21,829,004...21,829,088
Ensembl chr18:21,829,004...21,829,088
G
MIR93
microRNA 93
acts_upstream_of
ISS
(PMID:25389315)
BHF-UCL
PMID:25389315
NCBI chr 7:100,093,768...100,093,847
Ensembl chr 7:100,093,768...100,093,847
G
NOL3
nucleolar protein 3
involved_in
ISO
PMID:23382383
UniProt
PMID:23382383
RGD:10047354
NCBI chr16:67,170,538...67,175,737
Ensembl chr16:67,170,154...67,175,737
G
PDE4D
phosphodiesterase 4D
involved_in
ISS
(PMID:16213210)
BHF-UCL
PMID:16213210
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
G
PLN
phospholamban
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
G
SRI
sorcin
involved_in
IMP IDA
(PMID:12754254) (PMID:17699613)
BHF-UCL
PMID:12754254 PMID:17699613
NCBI chr 7:88,205,115...88,226,976
Ensembl chr 7:88,205,115...88,226,993
G
TRDN
triadin
involved_in
ISO TAS ISS IBA
(PMID:19567751)
RGD BHF-UCL GO_Central
PMID:17569730 PMID:19567751
GO_REF:0000024 GO_REF:0000033 RGD:2314601
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
G
AGT
angiotensinogen
involved_in
NAS
(PMID:17159080)
BHF-UCL
PMID:17159080
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
G
AGTR1
angiotensin II receptor type 1
involved_in
NAS
(PMID:17159080)
BHF-UCL
PMID:17159080
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
G
CORIN
corin, serine peptidase
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
G
CALM1
calmodulin 1
involved_in
ISO IDA
(PMID:22067155)
RGD UniProt
PMID:15628869 PMID:22067155
RGD:7241270
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
G
CALM2
calmodulin 2
involved_in
ISO IDA
(PMID:22067155)
RGD UniProt
PMID:15628869 PMID:22067155
RGD:7241270
NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
G
CALM3
calmodulin 3
involved_in
ISO IDA
(PMID:22067155)
RGD UniProt
PMID:15628869 PMID:22067155
RGD:7241270
NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
G
CAMK2D
calcium/calmodulin dependent protein kinase II delta
involved_in
TAS
(PMID:19482609)
UniProt
PMID:19482609
NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
G
FKBP1A
FKBP prolyl isomerase 1A
involved_in
ISO
(PMID:9461216)
BHF-UCL
PMID:9461216
NCBI chr20:1,368,978...1,393,054
Ensembl chr20:1,368,977...1,393,164
G
FKBP1B
FKBP prolyl isomerase 1B
involved_in
ISO
(PMID:12837242)
BHF-UCL
PMID:12837242
NCBI chr 2:24,033,206...24,063,681
Ensembl chr 2:24,049,701...24,063,681
G
JPH3
junctophilin 3
involved_in
ISO
(PMID:16809425)
UniProt
PMID:16809425
NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156
G
JSRP1
junctional sarcoplasmic reticulum protein 1
acts_upstream_of_or_within
ISO
(PMID:16638807)
MGI
PMID:16638807
NCBI chr19:2,268,493...2,269,253
Ensembl chr19:2,252,252...2,269,759
G
PLN
phospholamban
acts_upstream_of_or_within
ISO
(PMID:10603936)
MGI
PMID:10603936
NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
G
SELENON
selenoprotein N
involved_in
IMP
(PMID:18713863)
UniProt
PMID:18713863
NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
G
CASQ1
calsequestrin 1
involved_in
ISO IEA
RGD Ensembl
PMID:19029185
GO_REF:0000107 RGD:2313265
NCBI chr 1:160,190,575...160,201,886
Ensembl chr 1:160,190,575...160,201,886
G
SLC25A23
solute carrier family 25 member 23
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr19:6,436,081...6,459,792
Ensembl chr19:6,436,079...6,465,203
G
CASQ1
calsequestrin 1
involved_in acts_upstream_of_or_within
ISS IEA IBA
UniProt Ensembl GO_Central
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr 1:160,190,575...160,201,886
Ensembl chr 1:160,190,575...160,201,886
G
DMD
dystrophin
involved_in
ISS
(PMID:19198614)
BHF-UCL
PMID:19198614
NCBI chr X:31,119,222...33,339,388
Ensembl chr X:31,097,677...33,339,609
G
FKBP1A
FKBP prolyl isomerase 1A
involved_in
IDA
(PMID:7592869)
BHF-UCL
PMID:7592869
NCBI chr20:1,368,978...1,393,054
Ensembl chr20:1,368,977...1,393,164
G
GSTM2
glutathione S-transferase mu 2
involved_in
IDA
(PMID:17023043)
BHF-UCL
PMID:17023043
NCBI chr 1:109,668,057...109,683,997
Ensembl chr 1:109,668,022...109,709,551
G
BAX
BCL2 associated X, apoptosis regulator
acts_upstream_of
IEA
Ensembl
GO_REF:0000107
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
G
CACNA1S
calcium voltage-gated channel subunit alpha1 S
involved_in
IMP
(PMID:28012042)
UniProt
PMID:28012042
NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
G
CCL19
C-C motif chemokine ligand 19
involved_in
IDA
(PMID:14592837)
BHF-UCL
PMID:14592837
NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
G
CCL21
C-C motif chemokine ligand 21
involved_in
IDA
(PMID:14592837)
BHF-UCL
PMID:14592837
NCBI chr 9:34,709,005...34,710,136
Ensembl chr 9:34,709,005...34,710,136
G
CCR7
C-C motif chemokine receptor 7
involved_in
IDA
(PMID:14592837)
BHF-UCL
PMID:14592837
NCBI chr17:40,553,769...40,565,472
Ensembl chr17:40,551,081...40,565,472
G
CHERP
calcium homeostasis endoplasmic reticulum protein
involved_in
IMP
(PMID:12656674)
UniProt
PMID:12656674
NCBI chr19:16,517,894...16,542,437
Ensembl chr19:16,517,894...16,542,437
G
DDIT3
DNA damage inducible transcript 3
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
G
DRD2
dopamine receptor D2
involved_in
ISS
BHF-UCL
GO_REF:0000024
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
G
ERO1A
endoplasmic reticulum oxidoreductase 1 alpha
involved_in
IEA ISS
Ensembl UniProt
GO_REF:0000024 GO_REF:0000107
NCBI chr14:52,639,915...52,695,558
Ensembl chr14:52,639,915...52,695,900
G
F2R
coagulation factor II thrombin receptor
involved_in
ISO ISS
RGD UniProt
PMID:15145074
GO_REF:0000024 RGD:1582290
NCBI chr 5:76,716,126...76,735,770
Ensembl chr 5:76,716,126...76,735,770
G
FCRL5
Fc receptor like 5
acts_upstream_of
ISO
(PMID:23509253)
MGI
PMID:23509253
NCBI chr 1:157,513,377...157,552,515
Ensembl chr 1:157,513,377...157,552,515
G
FGF2
fibroblast growth factor 2
involved_in
IDA
(PMID:20011604)
DFLAT
PMID:20011604
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
G
FKBP1A
FKBP prolyl isomerase 1A
acts_upstream_of_or_within
ISO
(PMID:15289441) (PMID:12704193)
MGI
PMID:12704193 PMID:15289441
NCBI chr20:1,368,978...1,393,054
Ensembl chr20:1,368,977...1,393,164
G
FKBP1B
FKBP prolyl isomerase 1B
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:24,033,206...24,063,681
Ensembl chr 2:24,049,701...24,063,681
G
FLNA
filamin A
involved_in
NAS
(PMID:16293600)
ComplexPortal
PMID:16293600
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
G
GLP1R
glucagon like peptide 1 receptor
ISO
RGD
PMID:15789279
RGD:1598438
NCBI chr 6:39,048,781...39,091,303
Ensembl chr 6:39,048,781...39,091,303
G
GP1BA
glycoprotein Ib platelet subunit alpha
involved_in
IDA NAS
(PMID:1939645) (PMID:16293600)
ComplexPortal
PMID:1939645 PMID:16293600
NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
G
GP1BB
glycoprotein Ib platelet subunit beta
involved_in
IDA NAS
(PMID:1939645) (PMID:16293600)
ComplexPortal
PMID:1939645 PMID:16293600
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
G
GP5
glycoprotein V platelet
involved_in
IDA NAS
(PMID:1939645) (PMID:16293600)
ComplexPortal
PMID:1939645 PMID:16293600
NCBI chr 3:194,394,821...194,399,266
Ensembl chr 3:194,394,821...194,399,266
G
GP9
glycoprotein IX platelet
involved_in
IDA NAS
(PMID:1939645) (PMID:16293600)
ComplexPortal
PMID:1939645 PMID:16293600
NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406
G
GPR39
G protein-coupled receptor 39
acts_upstream_of
ISO
(PMID:23133519)
MGI
PMID:23133519
NCBI chr 2:132,416,805...132,646,582
Ensembl chr 2:132,416,805...132,646,582
G
HCRT
hypocretin neuropeptide precursor
NOT
ISO
cortical neurons
RGD
PMID:15858425
RGD:1600997
NCBI chr17:42,184,060...42,185,452
Ensembl chr17:42,184,060...42,185,452
G
HTR2A
5-hydroxytryptamine receptor 2A
involved_in
IMP IBA IDA
(PMID:18703043) (PMID:15862800)
UniProt GO_Central
PMID:15862800 PMID:18703043
GO_REF:0000033
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
G
HTR2B
5-hydroxytryptamine receptor 2B
involved_in
IMP IBA IDA
(PMID:18566482), (PMID:18703043), (PMID:8882600) (PMID:15862800)
UniProt GO_Central
PMID:8882600 PMID:15862800 PMID:18566482 PMID:18703043
GO_REF:0000033
NCBI chr 2:231,108,230...231,125,042
Ensembl chr 2:231,108,230...231,125,042
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HTR2C
5-hydroxytryptamine receptor 2C
involved_in
IMP IBA
(PMID:18703043)
UniProt GO_Central
PMID:18703043
GO_REF:0000033
NCBI chr X:114,584,086...114,910,061
Ensembl chr X:114,584,078...114,910,061
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IBTK
inhibitor of Bruton tyrosine kinase
acts_upstream_of_or_within involved_in
IDA IBA
(PMID:11577348)
MGI GO_Central
PMID:11577348
GO_REF:0000033
NCBI chr 6:82,169,987...82,247,744
Ensembl chr 6:82,169,986...82,247,754
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
involved_in
IEA IDA IBA ISS
(PMID:10620513)
UniProt GO_Central Ensembl
PMID:10620513
GO_REF:0000024 GO_REF:0000033 GO_REF:0000104 GO_REF:0000107
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
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ITPR2
inositol 1,4,5-trisphosphate receptor type 2
involved_in
ISS IEA IBA
BHF-UCL Ensembl UniProt GO_Central
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr12:26,335,352...26,833,194
Ensembl chr12:26,335,352...26,833,194
G
ITPR3
inositol 1,4,5-trisphosphate receptor type 3
involved_in
IEA IDA IBA
(PMID:32949214)
UniProt GO_Central
PMID:32949214
GO_REF:0000033 GO_REF:0000104
NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574
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LCK
LCK proto-oncogene, Src family tyrosine kinase
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165
G
MCOLN1
mucolipin TRP cation channel 1
involved_in
ISO IEA
RGD Ensembl
PMID:17613490
GO_REF:0000107 RGD:7205504
NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
G
P2RX7
purinergic receptor P2X 7
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr12:121,132,876...121,188,032
Ensembl chr12:121,132,819...121,188,032
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PKD2
polycystin 2, transient receptor potential cation channel
involved_in acts_upstream_of_or_within
IDA IEA IBA IMP
(PMID:11854751) (PMID:19265036)
BHF-UCL Ensembl GO_Central
PMID:11854751 PMID:19265036
GO_REF:0000033 GO_REF:0000107
NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777
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PLCB1
phospholipase C beta 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
G
PLCB2
phospholipase C beta 2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr15:40,284,256...40,307,935
Ensembl chr15:40,278,176...40,307,935
G
PLCB3
phospholipase C beta 3
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr11:64,251,530...64,269,452
Ensembl chr11:64,251,530...64,269,150
G
PLCB4
phospholipase C beta 4
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
G
PLCE1
phospholipase C epsilon 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
G
PLCG1
phospholipase C gamma 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr20:41,137,543...41,177,626
Ensembl chr20:41,136,960...41,196,801
G
PLCG2
phospholipase C gamma 2
involved_in
IDA IBA IEA
(PMID:11606584)
UniProt GO_Central Ensembl
PMID:11606584
GO_REF:0000033 GO_REF:0000107
NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685
G
PLCH1
phospholipase C eta 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
G
PLCH2
phospholipase C eta 2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 1:2,415,943...2,505,532
Ensembl chr 1:2,425,980...2,505,532
G
PLCL1
phospholipase C like 1 (inactive)
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 2:197,804,593...198,149,863
Ensembl chr 2:197,804,593...198,572,581
G
PLCL2
phospholipase C like 2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 3:16,884,955...17,090,606
Ensembl chr 3:16,802,651...17,090,604
G
PTPRC
protein tyrosine phosphatase receptor type C
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,759,342
G
RYR1
ryanodine receptor 1
involved_in acts_upstream_of_or_within
ISS IDA ISO IMP
(PMID:10026226) (PMID:12704193) (PMID:11741831), (PMID:16163667)
BHF-UCL UniProt MGI
PMID:10026226 PMID:11741831 PMID:12704193 PMID:16163667
GO_REF:0000024
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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RYR2
ryanodine receptor 2
involved_in
IDA ISS
(PMID:12443530), (PMID:17921453)
BHF-UCL
PMID:12443530 PMID:17921453
GO_REF:0000024
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
G
RYR3
ryanodine receptor 3
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
G
TMEM38B
transmembrane protein 38B
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629
G
TPCN2
two pore segment channel 2
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr11:69,048,932...69,090,597
Ensembl chr11:69,048,932...69,136,316
G
TRPM2
transient receptor potential cation channel subfamily M member 2
involved_in
IEA IBA ISS IMP
(PMID:27068538)
Ensembl GO_Central UniProt
PMID:27068538
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr21:44,353,621...44,442,644
Ensembl chr21:44,350,163...44,443,081
G
XCL1
X-C motif chemokine ligand 1
involved_in acts_upstream_of_or_within
ISS ISO
(PMID:10518929)
BHF-UCL MGI
PMID:10518929
GO_REF:0000024
NCBI chr 1:168,576,605...168,582,069
Ensembl chr 1:168,576,605...168,582,069
G
XCR1
X-C motif chemokine receptor 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 3:46,017,007...46,085,844
Ensembl chr 3:46,016,990...46,085,825
G
FASLG
Fas ligand
acts_upstream_of_or_within
IDA
(PMID:26582200)
MGI
PMID:26582200
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
G
ITPR1
inositol 1,4,5-trisphosphate receptor type 1
involved_in
IDA
(PMID:36376291)
UniProt
PMID:36376291
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
G
TMEM38B
transmembrane protein 38B
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629
G
CCL3
C-C motif chemokine ligand 3
involved_in
IDA
(PMID:19523456)
UniProt
PMID:19523456
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
G
CCR5
C-C motif chemokine receptor 5
involved_in
IDA
(PMID:19523456)
UniProt
PMID:19523456
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
G
NOL3
nucleolar protein 3
involved_in
IDA
(PMID:15509781)
UniProt
PMID:15509781
NCBI chr16:67,170,538...67,175,737
Ensembl chr16:67,170,154...67,175,737
G
RYR1
ryanodine receptor 1
involved_in
ISS IBA
UniProt GO_Central
GO_REF:0000024 GO_REF:0000033
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
G
RYR2
ryanodine receptor 2
involved_in acts_upstream_of_or_within
IMP ISS ISO IBA IDA IEA
(PMID:12919952) (PMID:12089338) (PMID:27733687), (PMID:33536282)
BHF-UCL MGI GO_Central UniProt Ensembl
PMID:12089338 PMID:12919952 PMID:27733687 PMID:33536282
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
G
RYR3
ryanodine receptor 3
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
G
TMEM38A
transmembrane protein 38A
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr19:16,661,139...16,690,023
Ensembl chr19:16,661,139...16,690,023
G
TMEM38B
transmembrane protein 38B
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629
G
TRDN
triadin
involved_in acts_upstream_of_or_within
ISS IEA IBA
BHF-UCL Ensembl GO_Central
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
G
ATP6V1B1
ATPase H+ transporting V1 subunit B1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
G
COMT
catechol-O-methyltransferase
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
G
EDNRB
endothelin receptor type B
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529
G
MLLT6
MLLT6, PHD finger containing
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr17:38,705,273...38,729,795
Ensembl chr17:38,705,273...38,729,795
G
NR3C2
nuclear receptor subfamily 3 group C member 2
acts_upstream_of_or_within
ISO
(PMID:9689096)
MGI
PMID:9689096
NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698
G
ATP7B
ATPase copper transporting beta
involved_in
IDA
(PMID:16472602)
UniProt
PMID:16472602
NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
G
CALR
calreticulin
involved_in
TAS
(PMID:15474971)
BHF-UCL
PMID:15474971
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
G
CASQ2
calsequestrin 2
involved_in
IDA
(PMID:16601229)
BHF-UCL
PMID:16601229
NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921
G
HSP90B1
heat shock protein 90 beta family member 1
involved_in
NAS
(PMID:15192333)
UniProt
PMID:15192333
NCBI chr12:103,930,410...103,947,926
Ensembl chr12:103,930,107...103,953,931
G
PSEN1
presenilin 1
acts_upstream_of_or_within_positive_effect
IEA
Ensembl
GO_REF:0000107
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
G
APP
amyloid beta precursor protein
acts_upstream_of_or_within
ISO
(PMID:12431992)
MGI
PMID:12431992
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
G
DMTN
dematin actin binding protein
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 8:22,048,931...22,082,525
Ensembl chr 8:22,048,995...22,082,527
G
PSEN1
presenilin 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
G
ATP1A1
ATPase Na+/K+ transporting subunit alpha 1
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261
G
CYP11B2
cytochrome P450 family 11 subfamily B member 2
involved_in
IMP
(PMID:9838244)
BHF-UCL
PMID:9838244
NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
G
CYP4A11
cytochrome P450 family 4 subfamily A member 11
involved_in
IEP
(PMID:10660572)
UniProt
PMID:10660572
NCBI chr 1:46,929,188...46,941,476
Ensembl chr 1:46,929,177...46,941,484
G
CYP4F12
cytochrome P450 family 4 subfamily F member 12
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr19:15,673,087...15,697,174
Ensembl chr19:15,673,018...15,697,174
G
CYP4F2
cytochrome P450 family 4 subfamily F member 2
involved_in
IEP
(PMID:10660572)
UniProt
PMID:10660572
NCBI chr19:15,878,023...15,898,074
Ensembl chr19:15,878,023...15,898,077
G
EDNRA
endothelin receptor type A
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
G
EDNRB
endothelin receptor type B
involved_in
IEA
Ensembl
GO_REF:0000107
NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529
G
EXT1
exostosin glycosyltransferase 1
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
G
EXT2
exostosin glycosyltransferase 2
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
G
MC3R
melanocortin 3 receptor
involved_in
ISO IEA
RGD Ensembl
PMID:19570553
GO_REF:0000107 RGD:6484660
NCBI chr20:56,248,732...56,249,815
Ensembl chr20:56,248,732...56,249,815
G
SCN7A
sodium voltage-gated channel alpha subunit 7
involved_in acts_upstream_of_or_within
IMP IEA
(PMID:26537257)
UniProt Ensembl
PMID:26537257
GO_REF:0000107
NCBI chr 2:166,403,573...166,494,249
Ensembl chr 2:166,403,573...166,611,482
G
SCNN1A
sodium channel epithelial 1 subunit alpha
involved_in
IDA
(PMID:24124190)
UniProt
PMID:24124190
NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
G
SCNN1B
sodium channel epithelial 1 subunit beta
involved_in acts_upstream_of_or_within
IDA IEA
(PMID:24124190)
UniProt Ensembl
PMID:24124190
GO_REF:0000107
NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
G
SCNN1G
sodium channel epithelial 1 subunit gamma
involved_in
IDA
(PMID:24124190)
UniProt
PMID:24124190
NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
G
SLC12A1
solute carrier family 12 member 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
G
SLC12A2
solute carrier family 12 member 2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
G
SLC12A3
solute carrier family 12 member 3
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
G
SLC9B2
solute carrier family 9 member B2
involved_in
ISS IEA
UniProt Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 4:103,018,029...103,077,319
Ensembl chr 4:103,019,868...103,085,829
G
UMOD
uromodulin
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
G
UPK3A
uroplakin 3A
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr22:45,284,949...45,295,874
Ensembl chr22:45,284,949...45,295,874
G
ATP6AP1
ATPase H+ transporting accessory protein 1
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
G
ATP6AP2
ATPase H+ transporting accessory protein 2
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
G
ATP6V0A1
ATPase H+ transporting V0 subunit a1
involved_in
TAS IBA
(PMID:22982048)
ParkinsonsUK-UCL GO_Central
PMID:22982048
GO_REF:0000033
NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582
G
ATP6V0A2
ATPase H+ transporting V0 subunit a2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
G
ATP6V0A4
ATPase H+ transporting V0 subunit a4
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560
G
ATP6V0B
ATPase H+ transporting V0 subunit b
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 1:43,974,960...43,978,295
Ensembl chr 1:43,974,487...43,978,295
G
ATP6V0C
ATPase H+ transporting V0 subunit c
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
G
ATP6V0D1
ATPase H+ transporting V0 subunit d1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr16:67,438,019...67,481,157
Ensembl chr16:67,438,014...67,481,181
G
ATP6V0D2
ATPase H+ transporting V0 subunit d2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 8:86,098,910...86,154,225
Ensembl chr 8:85,987,323...86,154,225
G
ATP6V0E1
ATPase H+ transporting V0 subunit e1
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 5:172,983,771...173,035,445
Ensembl chr 5:172,983,771...173,035,445
G
ATP6V0E2
ATPase H+ transporting V0 subunit e2
involved_in
ISS
UniProt
GO_REF:0000024
NCBI chr 7:149,872,964...149,880,713
Ensembl chr 7:149,872,968...149,891,204
G
ATP6V1A
ATPase H+ transporting V1 subunit A
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
G
ATP6V1B1
ATPase H+ transporting V1 subunit B1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
G
ATP6V1B2
ATPase H+ transporting V1 subunit B2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
G
ATP6V1D
ATPase H+ transporting V1 subunit D
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr14:67,337,872...67,359,804
Ensembl chr14:67,294,371...67,360,265
G
ATP6V1F
ATPase H+ transporting V1 subunit F
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr 7:128,862,856...128,865,847
Ensembl chr 7:128,862,856...128,865,847
G
ATP6V1H
ATPase H+ transporting V1 subunit H
involved_in
NAS
(PMID:32001091), (PMID:9442887)
UniProt
PMID:9442887 PMID:32001091
NCBI chr 8:53,715,543...53,843,245
Ensembl chr 8:53,715,543...53,843,558
G
CLIC4
chloride intracellular channel 4
acts_upstream_of_or_within
IEA
Ensembl
GO_REF:0000107
NCBI chr 1:24,745,447...24,844,321
Ensembl chr 1:24,745,382...24,844,321
G
DMXL1
Dmx like 1
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr 5:119,071,027...119,249,127
Ensembl chr 5:119,037,772...119,249,138
G
DMXL2
Dmx like 2
involved_in
IBA
GO_Central
GO_REF:0000033
NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
G
RNASEK
ribonuclease K
involved_in
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532
G
SLC11A1
solute carrier family 11 member 1
involved_in acts_upstream_of_or_within
ISS IEA
BHF-UCL Ensembl
GO_REF:0000024 GO_REF:0000107
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
G
TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
involved_in
NAS IBA
(PMID:32001091)
ComplexPortal GO_Central
PMID:32001091
GO_REF:0000033
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all