KCNJ8

Potassium inwardly-rectifying channel, subfamily J, member 8, also known as KCNJ8, is a human gene encoding the K_ir6.1 protein.^[5] A mutation in KCNJ8 has been associated with cardiac arrest in the early repolarization syndrome.

AliasesKCNJ8, KIR6.1, uKATP-1, potassium voltage-gated channel subfamily J member 8, potassium inwardly rectifying channel subfamily J member 8

External IDsOMIM: 600935; MGI: 1100508; HomoloGene: 3654; GeneCards: KCNJ8; OMA:KCNJ8 - orthologs

Chr.Chromosome 12 (human)^[1]

End21,775,600 bp^[1]

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KCNJ8
Identifiers
Aliases	KCNJ8, KIR6.1, uKATP-1, potassium voltage-gated channel subfamily J member 8, potassium inwardly rectifying channel subfamily J member 8
External IDs	OMIM: 600935; MGI: 1100508; HomoloGene: 3654; GeneCards: KCNJ8; OMA:KCNJ8 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p12.1 Start 21,764,955 bp[1] End 21,775,600 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 G2|6 74.31 cM Start 142,510,563 bp[2] End 142,517,340 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right ventricle myocardium of left ventricle apex of heart body of pancreas right lobe of liver right auricle of heart gastric mucosa pericardium subcutaneous adipose tissue visceral pleura Top expressed in internal carotid artery ascending aorta molar aortic valve myocardium of ventricle migratory enteric neural crest cell digastric muscle cardiac muscles external carotid artery interventricular septum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function voltage-gated ion channel activity ATP binding inward rectifier potassium channel activity voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization ATP-activated inward rectifier potassium channel activity sulfonylurea receptor binding Cellular component integral component of membrane membrane intracellular membrane-bounded organelle voltage-gated potassium channel complex plasma membrane myofibril mitochondrion inward rectifying potassium channel sarcolemma Biological process response to exogenous dsRNA kidney development regulation of ion transmembrane transport ion transport development of the heart response to lipopolysaccharide defense response to virus potassium ion transport membrane repolarization during ventricular cardiac muscle cell action potential potassium ion import across plasma membrane ion transmembrane transport potassium ion transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3764 16523 Ensembl ENSG00000121361 ENSMUSG00000030247 UniProt Q15842 P97794 RefSeq (mRNA) NM_004982 NM_008428 NM_001330363 NM_001330366 RefSeq (protein) NP_004973 NP_001317292 NP_001317295 NP_032454 Location (UCSC) Chr 12: 21.76 – 21.78 Mb Chr 6: 142.51 – 142.52 Mb PubMed search [3] [4]
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Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. K_ir6.1 is an integral membrane protein and inward-rectifier type potassium channel. K_ir6.1, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins.^[5]