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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypertrichotic osteochondrodysplasia Cantu type Likely pathogenic rs1366543712 RCV002287310
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Brugada syndrome Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome 1 Uncertain significance ClinVar
ClinGen, Disgenet
ClinGen, Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CANTU SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiac arrest Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amelogenesis imperfecta nephrocalcinosis Amelogenesis Imperfecta BEFREE 20558321, 22056721
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29492846
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 29492846 Associate
★☆☆☆☆
Found in Text Mining only
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 22562657 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 22562657
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 22562657 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation GENOMICS_ENGLAND_DG 27283775
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome Brugada syndrome Pubtator 20558321, 22056721, 22840528 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome Brugada Syndrome Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome (disorder) Brugada Syndrome CLINGEN_DG 11984590, 19120683, 20558321, 22056721, 22840528, 24367007
★☆☆☆☆
Found in Text Mining only