Gene Gene information from NCBI Gene database.
Entrez ID 3764
Gene name Potassium inwardly rectifying channel subfamily J member 8
Gene symbol KCNJ8
Synonyms (NCBI Gene)
KIR6.1uKATP-1
Chromosome 12
Chromosome location 12p12.1
Summary Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, whi
miRNA miRNA information provided by mirtarbase database.
277
miRTarBase ID miRNA Experiments Reference
MIRT536557 hsa-miR-302c-3p PAR-CLIP 22012620
MIRT536556 hsa-miR-302d-3p PAR-CLIP 22012620
MIRT536555 hsa-miR-372-3p PAR-CLIP 22012620
MIRT536554 hsa-miR-373-3p PAR-CLIP 22012620
MIRT536553 hsa-miR-520a-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
95
GO ID Ontology Definition Evidence Reference
GO:0001508 Process Action potential IEA
GO:0001568 Process Blood vessel development IEA
GO:0001666 Process Response to hypoxia IEA
GO:0001774 Process Microglial cell activation IEA
GO:0001822 Process Kidney development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600935 6269 ENSG00000121361
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15842
Protein name ATP-sensitive inward rectifier potassium channel 8 (Inward rectifier K(+) channel Kir6.1) (Potassium channel, inwardly rectifying subfamily J member 8) (uKATP-1)
Protein function Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:20558321, PubMed:21836131, PubMed:24700710, PubMed:28842488). Their voltage dependence is regulate
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01007 IRK 37 184 Inward rectifier potassium channel transmembrane domain Domain
PF17655 IRK_C 191 363 Inward rectifier potassium channel C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly detected in fetal and adult heart. {ECO:0000269|PubMed:9573340}.
Sequence
Sequence length 424
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cGMP-PKG signaling pathway   ATP sensitive Potassium channels
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
276
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypertrichotic osteochondrodysplasia Cantu type Likely pathogenic rs1366543712 RCV002287310
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Brugada syndrome Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs1940602689, rs768927826, rs1940616222, rs750317966, rs1940604697, rs369660507, rs2137051977, rs1162681542, rs751945188, rs752928813, rs368274950, rs1482460942, rs2137052056, rs747622709, rs556299317
View all (97 more)
RCV001315931
RCV001317600
RCV001319694
RCV001327454
RCV001340711
RCV001341106
RCV001443218
RCV001454632
RCV001480859
RCV001485035
RCV001501276
RCV001480273
RCV001924948
RCV001895850
RCV001990373
RCV001904238
RCV001964128
RCV001875650
RCV002050017
RCV001910317
RCV001916713
RCV000459771
RCV000474235
RCV001916945
RCV001986000
RCV002006660
RCV002018837
RCV001896671
RCV001965249
RCV001910925
RCV001990249
RCV001890448
RCV002081082
RCV002161158
RCV002145828
RCV002128563
RCV002108652
RCV002147866
RCV002179173
RCV001085300
RCV002295973
RCV000692088
RCV005096423
RCV003099702
RCV003539430
RCV005058510
RCV005097147
RCV003099837
RCV003539442
RCV003108083
RCV005058711
RCV000474015
RCV003083533
RCV002595612
RCV002651463
RCV002628555
RCV003115714
RCV002587111
RCV002583833
RCV002600626
RCV002725280
RCV002800099
RCV000197643
RCV003011317
RCV003028714
RCV003026768
RCV003057803
RCV003024984
RCV003054251
RCV003051570
RCV003062078
RCV000206018
RCV000204491
RCV001853306
RCV001432692
RCV001079136
RCV003540067
RCV003540060
RCV003539747
RCV003540082
RCV003540165
RCV003655595
RCV003655650
RCV003655706
RCV003654461
RCV003654632
RCV003654852
RCV003654897
RCV003818221
RCV003834816
RCV003881587
RCV005104493
RCV001080520
RCV001421979
RCV000467268
RCV005091052
RCV001472777
RCV000862777
RCV002064317
RCV003539982
RCV000862875
RCV001365713
RCV000638820
RCV000638796
RCV000638719
RCV000695089
RCV000704814
RCV000695087
RCV000818310
RCV000823161
RCV000808286
RCV003655327
RCV002064709
RCV001457325
RCV000932349
RCV001466796
RCV001858902
RCV001225347
Brugada syndrome 1 Uncertain significance rs770087869 RCV000496355
Cardiac arrest Uncertain significance rs768851540 RCV000208382
Cardiac arrhythmia Uncertain significance rs730880120 RCV001842498
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 22562657
Amyotrophic Lateral Sclerosis Associate 29492846
Arrhythmias Cardiac Associate 22562657
Atrial Fibrillation Associate 22562657
Brugada Syndrome Associate 20558321, 22056721, 22840528
Cantu syndrome Associate 24176758, 24700710, 29327300, 31175705, 31828977, 32100467, 34056838, 37527933
Cardiomegaly Associate 37527933
Cardiomyopathy Dilated Associate 24339868
Cardiovascular Diseases Associate 33686948
Carotid Stenosis Associate 33686948