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KCNJ8 potassium inwardly rectifying channel subfamily J member 8 [ Homo sapiens (human) ]

Gene ID: 3764, updated on 4-Jan-2025

Summary

Official Symbol
KCNJ8provided by HGNC
Official Full Name
potassium inwardly rectifying channel subfamily J member 8provided by HGNC
Primary source
HGNC:HGNC:6269
See related
Ensembl:ENSG00000121361 MIM:600935; AllianceGenome:HGNC:6269
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KIR6.1; uKATP-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, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]
Expression
Broad expression in fat (RPKM 16.1), heart (RPKM 14.3) and 20 other tissues See more
Orthologs
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Genomic context

See KCNJ8 in Genome Data Viewer
Location:
12p12.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (21764955..21774706, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (21643637..21653388, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21917889..21927640, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6094 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21810675-21811203 Neighboring gene uncharacterized LOC105369689 Neighboring gene lactate dehydrogenase B Neighboring gene uncharacterized LOC102724261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:21925998-21926996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:21926997-21927994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6096 Neighboring gene ATP binding cassette subfamily C member 9 Neighboring gene VISTA enhancer hs2151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:22052130-22052630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:22052631-22053131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:22093793-22094770 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26510 Neighboring gene thioesterase superfamily member 4 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding  
enables ATP-activated inward rectifier potassium channel activity  
enables ATP-activated inward rectifier potassium channel activity PubMed 
enables ATP-activated inward rectifier potassium channel activity PubMed 
enables ATP-activated inward rectifier potassium channel activity PubMed 
enables ATPase-coupled monoatomic cation transmembrane transporter activity  
enables inward rectifier potassium channel activity PubMed 
enables protein binding PubMed 
enables sulfonylurea receptor binding  
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential PubMed 
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential PubMed 
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential PubMed 
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization PubMed 
Items 1 - 25 of 47
Process Evidence Code Pubs
involved_in CAMKK-AMPK signaling cascade  
involved_in NLRP3 inflammasome complex assembly  
involved_in adaptive immune response  
involved_in apoptotic process  
involved_in atrioventricular node cell differentiation  
involved_in calcium ion transmembrane transport  
involved_in coronary vasculature development  
involved_in defense response to virus  
involved_in determination of adult lifespan  
involved_in establishment of cell polarity  
involved_in fat cell differentiation  
involved_in fatty acid transport  
involved_in fibroblast proliferation  
involved_in gene expression  
involved_in glutamate secretion, neurotransmission  
involved_in heart morphogenesis  
involved_in inorganic cation transmembrane transport  
involved_in kidney development  
involved_in membrane repolarization during ventricular cardiac muscle cell action potential PubMed 
involved_in microglial cell activation  
involved_in neuromuscular process  
involved_in p38MAPK cascade  
involved_in potassium ion import across plasma membrane  
involved_in potassium ion import across plasma membrane PubMed 
involved_in potassium ion transmembrane transport PubMed 
involved_in potassium ion transport PubMed 
involved_in protein secretion  
involved_in reactive gliosis  
involved_in regulation of blood pressure  
involved_in regulation of heart rate  
involved_in regulation of monoatomic ion transmembrane transport  
involved_in regulation of presynaptic membrane potential  
involved_in response to ATP  
involved_in response to cytokine  
involved_in response to endoplasmic reticulum stress  
involved_in response to exogenous dsRNA  
involved_in response to hypoxia  
involved_in response to insulin  
involved_in response to ischemia  
involved_in response to lipopolysaccharide  
involved_in response to resveratrol  
involved_in response to xenobiotic stimulus  
involved_in synaptic assembly at neuromuscular junction  
involved_in transmission of nerve impulse  
involved_in transport across blood-brain barrier PubMed 
involved_in vasodilation  
involved_in ventricular cardiac muscle tissue development  
Items 1 - 25 of 47
Component Evidence Code Pubs
located_in glutamatergic synapse  
part_of inward rectifying potassium channel  
located_in myofibril  
is_active_in plasma membrane  
located_in plasma membrane  
part_of potassium ion-transporting ATPase complex  
located_in presynaptic active zone membrane  
located_in sarcolemma  
part_of voltage-gated potassium channel complex PubMed 

General protein information

Preferred Names
ATP-sensitive inward rectifier potassium channel 8
Names
inward rectifier K(+) channel Kir6.1
inwardly rectifying potassium channel KIR6.1
potassium channel, inwardly rectifying subfamily J member 8
potassium voltage-gated channel subfamily J member 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_041794.1 RefSeqGene

    Range
    5116..14867
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004982.4NP_004973.1  ATP-sensitive inward rectifier potassium channel 8

    See identical proteins and their annotated locations for NP_004973.1

    Status: REVIEWED

    Source sequence(s)
    AL546327, BQ003792, D50312
    Consensus CDS
    CCDS8692.1
    UniProtKB/Swiss-Prot
    O00657, Q15842
    UniProtKB/TrEMBL
    A8K706
    Related
    ENSP00000240662.2, ENST00000240662.3
    Conserved Domains (2) summary
    pfam01007
    Location:37184
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:191363
    IRK_C; Inward rectifier potassium channel C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    21764955..21774706 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    21643637..21653388 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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