ONTOLOGY REPORT - ANNOTATIONS
Term: intracellular monoatomic cation homeostasis
Accession: GO:0030003
browse the term
Definition: A homeostatic process involved in the maintenance of a steady state level of monoatomic cations within a cell. Monatomic cations (also called simple cations) are cations consisting of exactly one atom.
Synonyms: exact_synonym: cellular monoatomic cation homeostasis
broad_synonym: cellular cation homeostasis
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
AC046185.1
novel transcript
involved_in
IEA
InterPro
GO_REF:0000002
Ensembl chr17:63,702,845...63,752,097
G
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
G
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
G
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
G
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
G
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
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
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
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
NAS
(PMID:32001091)
ComplexPortal
PMID:32001091
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)
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
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
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
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
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
G
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
G
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
G
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
G
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
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
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
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
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
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
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
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
involved_in acts_upstream_of_or_within
ISO TAS IBA IEA
RGD Reactome GO_Central Ensembl
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
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
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
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
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
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
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
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
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
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
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
G
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
G
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
G
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
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
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
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
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
G
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
G
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
G
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
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
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
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
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
MIR210
microRNA 210
involved_in
IDA
(PMID:20436681)
ARUK-UCL
PMID:20436681
NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
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
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
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
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
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
G
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
G
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
G
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
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
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
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
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