ONTOLOGY REPORT - ANNOTATIONS |
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Term: | calcium ion homeostasis |
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Accession: | GO:0055074
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browse the term
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Definition: | Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. |
Synonyms: | exact_synonym: | regulation of calcium ion concentration |
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ABCC6
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ATP binding cassette subfamily C member 6
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involved_in
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IDA IEA
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(PMID:28592560)
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MGI Ensembl |
PMID:28592560 |
GO_REF:0000107 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ALPL
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alkaline phosphatase, biomineralization associated
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involved_in
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IEA IDA
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(PMID:28592560)
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Ensembl MGI |
PMID:28592560 |
GO_REF:0000107 |
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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ANKH
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ANKH inorganic pyrophosphate transport regulator
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involved_in
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
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ASPH
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aspartate beta-hydroxylase
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involved_in
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IDA
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(PMID:15302852)
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UniProt |
PMID:15302852 |
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NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
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ATP6V1B1
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ATPase H+ transporting V1 subunit B1
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involved_in
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IMP
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(PMID:20622307)
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UniProt |
PMID:20622307 |
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NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
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CALB1
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calbindin 1
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involved_in
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IEA
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InterPro |
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GO_REF:0000002 |
NCBI chr 8:90,058,608...90,082,879
Ensembl chr 8:90,058,608...90,095,475
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CAV1
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caveolin 1
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involved_in acts_upstream_of_or_within
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ISS IEA
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BHF-UCL Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCDC47
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coiled-coil domain containing 47
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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CIB2
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calcium and integrin binding family member 2
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involved_in
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ISS IBA IEA
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UniProt GO_Central Ensembl |
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GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
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CIB3
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calcium and integrin binding family member 3
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involved_in
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IBA
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GO_Central |
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GO_REF:0000033 |
NCBI chr19:16,161,368...16,173,525
Ensembl chr19:16,161,368...16,173,525
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CST5
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cystatin D
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involved_in
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ISO
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(PMID:16680148)
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MGI |
PMID:16680148 |
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NCBI chr20:23,875,934...23,879,748
Ensembl chr20:23,875,934...23,879,748
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CYP27B1
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cytochrome P450 family 27 subfamily B member 1
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involved_in
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IMP
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(PMID:9415400)
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BHF-UCL |
PMID:9415400 |
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NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
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ENPP1
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ectonucleotide pyrophosphatase/phosphodiesterase 1
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involved_in
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ISO
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(PMID:24732453) (PMID:12817751) (PMID:23798568), (PMID:26624227), (PMID:26763447), (PMID:28402956), (PMID:28592560) (PMID:22927960) (PMID:21490328), (PMID:25260930) (PMID:28592560) (PMID:24770645) (PMID:22359666), (PMID:22927960), (PMID:23717624), (PMID:28701330) (PMID:28704395)
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MGI |
PMID:12817751 PMID:21490328 PMID:22359666 PMID:22927960 PMID:23717624 PMID:23798568 PMID:24732453 PMID:24770645 PMID:25260930 PMID:26624227 PMID:26763447 PMID:28402956 PMID:28592560 PMID:28701330 PMID:28704395 More...
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NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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FAM20A
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FAM20A golgi associated secretory pathway pseudokinase
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involved_in
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IMP
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(PMID:23434854)
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UniProt |
PMID:23434854 |
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NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367
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FAM3A
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FAM3 metabolism regulating signaling molecule A
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr X:154,506,171...154,516,232
Ensembl chr X:154,506,159...154,516,242
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FGF23
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fibroblast growth factor 23
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involved_in
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
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FGFR1
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fibroblast growth factor receptor 1
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involved_in
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR3
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fibroblast growth factor receptor 3
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involved_in
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ISO
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(PMID:23523568)
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MGI |
PMID:23523568 |
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NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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GCM2
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glial cells missing transcription factor 2
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acts_upstream_of_or_within
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ISO
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(PMID:19968565)
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MGI |
PMID:19968565 |
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NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
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G
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GRIN1
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glutamate ionotropic receptor NMDA type subunit 1
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involved_in acts_upstream_of_or_within
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ISS ISO
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(PMID:7907365)
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UniProt MGI |
PMID:7907365 |
GO_REF:0000024 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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HOXA3
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homeobox A3
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acts_upstream_of_or_within
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ISO
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(PMID:19968565)
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MGI |
PMID:19968565 |
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NCBI chr 7:27,107,010...27,152,583
Ensembl chr 7:27,106,184...27,152,583
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G
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HRC
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histidine rich calcium binding protein
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acts_upstream_of_or_within
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ISO
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(PMID:16600288)
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MGI |
PMID:16600288 |
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NCBI chr19:49,151,198...49,155,396
Ensembl chr19:49,151,198...49,155,396
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G
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ITPR3
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inositol 1,4,5-trisphosphate receptor type 3
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involved_in
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IMP
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(PMID:32949214)
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UniProt |
PMID:32949214 |
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NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574
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G
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JPH2
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junctophilin 2
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involved_in
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IDA
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(PMID:20095964)
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UniProt |
PMID:20095964 |
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NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188
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G
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KDR
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kinase insert domain receptor
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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G
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KL
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klotho
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
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G
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LCN6
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lipocalin 6
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 9:136,744,017...136,748,525
Ensembl chr 9:136,744,017...136,748,525
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G
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NT5E
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5'-nucleotidase ecto
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involved_in
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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G
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PSEN1
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presenilin 1
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involved_in
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IBA
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GO_Central |
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GO_REF:0000033 |
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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G
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PSEN2
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presenilin 2
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involved_in
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IBA
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GO_Central |
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GO_REF:0000033 |
NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
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PTH
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parathyroid hormone
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involved_in
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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S100A14
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S100 calcium binding protein A14
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involved_in
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NAS
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(PMID:16682778)
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UniProt |
PMID:16682778 |
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NCBI chr 1:153,614,255...153,616,325
Ensembl chr 1:153,614,255...153,616,986
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SELENON
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selenoprotein N
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involved_in
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IMP IBA
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(PMID:19557870)
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UniProt GO_Central |
PMID:19557870 |
GO_REF:0000033 |
NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
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G
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SGCD
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sarcoglycan delta
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788
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G
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SLC24A4
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solute carrier family 24 member 4
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involved_in
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ISS IEA
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ARUK-UCL Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481
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G
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SLC34A1
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solute carrier family 34 member 1
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involved_in
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ISO
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(PMID:28704395)
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MGI |
PMID:28704395 |
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NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
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G
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SLC8A1
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solute carrier family 8 member A1
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involved_in
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ISS
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BHF-UCL |
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GO_REF:0000024 |
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
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G
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SNCA
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synuclein alpha
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NOT|involved_in
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IDA
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(PMID:12239163)
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UniProt |
PMID:12239163 |
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NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
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G
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SNX10
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sorting nexin 10
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
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G
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SPP1
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secreted phosphoprotein 1
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involved_in
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ISO
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(PMID:12817751)
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MGI |
PMID:12817751 |
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NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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G
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STC2
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stanniocalcin 2
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 5:173,314,723...173,328,414
Ensembl chr 5:173,314,723...173,328,447
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G
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TMTC2
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transmembrane O-mannosyltransferase targeting cadherins 2
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involved_in
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IMP
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(PMID:24764305)
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UniProt |
PMID:24764305 |
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NCBI chr12:82,686,906...83,134,866
Ensembl chr12:82,686,880...83,134,870
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G
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TNFSF11
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TNF superfamily member 11
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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G
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TRIM24
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tripartite motif containing 24
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 7:138,460,259...138,589,996
Ensembl chr 7:138,460,259...138,589,996
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TRPV5
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transient receptor potential cation channel subfamily V member 5
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 7:142,908,101...142,933,746
Ensembl chr 7:142,908,101...142,933,746
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G
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TRPV6
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transient receptor potential cation channel subfamily V member 6
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involved_in acts_upstream_of_or_within
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745
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G
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UMOD
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uromodulin
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
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G
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WFS1
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wolframin ER transmembrane glycoprotein
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involved_in
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IEA IBA IDA
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(PMID:14527944)
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InterPro GO_Central BHF-UCL |
PMID:14527944 |
GO_REF:0000002 GO_REF:0000033 |
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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G
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WNK4
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WNK lysine deficient protein kinase 4
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involved_in
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr17:42,780,610...42,797,066
Ensembl chr17:42,780,610...42,797,066
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G
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ZNHIT1
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zinc finger HIT-type containing 1
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involved_in
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ISS IEA
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 7:101,218,165...101,224,190
Ensembl chr 7:101,218,165...101,224,190
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G
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GHITM
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growth hormone inducible transmembrane protein
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involved_in
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IMP IBA
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(PMID:35912435)
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UniProt GO_Central |
PMID:35912435 |
GO_REF:0000033 |
NCBI chr10:84,139,509...84,153,568
Ensembl chr10:84,139,482...84,154,841
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G
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LETM1
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leucine zipper and EF-hand containing transmembrane protein 1
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involved_in
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IEA IMP IDA
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(PMID:32139798) (PMID:19797662)
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Ensembl UniProt |
PMID:19797662 PMID:32139798 |
GO_REF:0000107 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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G
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SLC8B1
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solute carrier family 8 member B1
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involved_in
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IDA IBA IEA
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(PMID:24898248)
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UniProt GO_Central Ensembl |
PMID:24898248 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr12:113,298,771...113,335,109
Ensembl chr12:113,298,759...113,359,493
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G
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AC046185.1
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novel transcript
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involved_in
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IEA
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InterPro |
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GO_REF:0000002 |
Ensembl chr17:63,702,845...63,752,097
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G
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ATP2A2
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ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
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involved_in
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IDA
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(PMID:10587333), (PMID:16402920)
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BHF-UCL |
PMID:10587333 PMID:16402920 |
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NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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G
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ATP2A3
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ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3
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ISO
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RGD |
PMID:11956212 |
RGD:631751 |
NCBI chr17:3,923,873...3,964,437
Ensembl chr17:3,923,868...3,964,464
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G
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BAK1
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BCL2 antagonist/killer 1
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involved_in
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TAS
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(PMID:18309324)
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UniProt |
PMID:18309324 |
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NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293
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G
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BAX
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BCL2 associated X, apoptosis regulator
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involved_in
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TAS
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(PMID:18309324)
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UniProt |
PMID:18309324 |
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NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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G
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BCL2
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BCL2 apoptosis regulator
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involved_in acts_upstream_of_or_within
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TAS IEA
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(PMID:18309324)
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UniProt Ensembl |
PMID:18309324 |
GO_REF:0000107 |
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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G
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CAMK2D
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calcium/calmodulin dependent protein kinase II delta
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involved_in
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ISS
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BHF-UCL |
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GO_REF:0000024 |
NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
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G
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CCDC47
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coiled-coil domain containing 47
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involved_in
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IEA IMP
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(PMID:30401460)
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InterPro UniProt |
PMID:30401460 |
GO_REF:0000002 |
NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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G
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CLCC1
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chloride channel CLIC like 1
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involved_in
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IMP
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(PMID:37142673)
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UniProt |
PMID:37142673 |
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NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527
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G
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GRINA
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glutamate ionotropic receptor NMDA type subunit associated protein 1
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 8:143,990,056...143,993,415
Ensembl chr 8:143,990,056...143,993,415
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G
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HERPUD1
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homocysteine inducible ER protein with ubiquitin like domain 1
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involved_in
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IDA IBA
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(PMID:15102845), (PMID:22045699)
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ParkinsonsUK-UCL GO_Central |
PMID:15102845 PMID:22045699 |
GO_REF:0000033 |
NCBI chr16:56,932,142...56,944,864
Ensembl chr16:56,932,142...56,944,864
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G
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ITPR1
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inositol 1,4,5-trisphosphate receptor type 1
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acts_upstream_of_or_within
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IEA
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Ensembl |
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GO_REF:0000107 |
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
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G
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KCNK16
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potassium two pore domain channel subfamily K member 16
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involved_in
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IMP
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(PMID:28928238)
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UniProt |
PMID:28928238 |
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NCBI chr 6:39,314,570...39,322,968
Ensembl chr 6:39,314,698...39,322,968
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G
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KCTD17
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potassium channel tetramerization domain containing 17
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involved_in
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IMP
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(PMID:25983243)
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UniProt |
PMID:25983243 |
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NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390
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G
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PACS2
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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
|
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
|
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
|
FREY1
|
Frey regulator of sperm-oocyte fusion 1
|
acts_upstream_of_or_within
|
ISO
|
(PMID:30733280)
|
UniProt |
PMID:30733280 |
|
NCBI chr11:45,906,534...45,907,271
Ensembl chr11:45,906,513...45,907,272
|
|
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 acts_upstream_of_or_within
|
ISS ISO IEA
|
(PMID:30733280)
|
UniProt UniProt Ensembl |
PMID:30733280 |
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
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|
G
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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
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UMOD
|
uromodulin
|
acts_upstream_of_or_within
|
IEA
|
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
|
|
G
|
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
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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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
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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
|
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
|
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
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CCL3
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C-C motif chemokine ligand 3
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involved_in
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IDA
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(PMID:19523456)
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UniProt |
PMID:19523456 |
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NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
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G
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CCR5
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C-C motif chemokine receptor 5
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involved_in
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IDA
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(PMID:19523456)
|
UniProt |
PMID:19523456 |
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NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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G
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NOL3
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nucleolar protein 3
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involved_in
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IDA
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(PMID:15509781)
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UniProt |
PMID:15509781 |
|
NCBI chr16:67,170,538...67,175,737
Ensembl chr16:67,170,154...67,175,737
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|
G
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RYR1
|
ryanodine receptor 1
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involved_in
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ISS IBA
|
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UniProt GO_Central |
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GO_REF:0000024 GO_REF:0000033 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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G
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RYR2
|
ryanodine receptor 2
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involved_in acts_upstream_of_or_within
|
IMP ISS ISO IBA IDA IEA
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(PMID:12919952) (PMID:12089338) (PMID:27733687), (PMID:33536282)
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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
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G
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RYR3
|
ryanodine receptor 3
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involved_in
|
IBA
|
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
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|
G
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TMEM38A
|
transmembrane protein 38A
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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
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|
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
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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
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|
|
G
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ATP7B
|
ATPase copper transporting beta
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involved_in
|
IDA
|
(PMID:16472602)
|
UniProt |
PMID:16472602 |
|
NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
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|
G
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CALR
|
calreticulin
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involved_in
|
TAS
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(PMID:15474971)
|
BHF-UCL |
PMID:15474971 |
|
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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|
G
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CASQ2
|
calsequestrin 2
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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
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G
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HSP90B1
|
heat shock protein 90 beta family member 1
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involved_in
|
NAS
|
(PMID:15192333)
|
UniProt |
PMID:15192333 |
|
NCBI chr12:103,930,410...103,947,926
Ensembl chr12:103,930,107...103,953,931
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G
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PSEN1
|
presenilin 1
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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
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|
|
G
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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
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|
G
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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
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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
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Term paths to the root
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