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

Gene ID: 3764, updated on 17-Jun-2024

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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (21764955..21774706, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (21643637..21653388, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ATP-activated inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ATP-activated inward rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ATP-activated inward rectifier potassium channel activity NAS
Non-traceable Author Statement
more info
PubMed 
enables ATPase-coupled monoatomic cation transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables inward rectifier potassium channel activity TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sulfonylurea receptor binding IEA
Inferred from Electronic Annotation
more info
 
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential NAS
Non-traceable Author Statement
more info
PubMed 
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in CAMKK-AMPK signaling cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in NLRP3 inflammasome complex assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in atrioventricular node cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in coronary vasculature development IEA
Inferred from Electronic Annotation
more info
 
involved_in defense response to virus IEA
Inferred from Electronic Annotation
more info
 
involved_in determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
 
involved_in establishment of cell polarity IEA
Inferred from Electronic Annotation
more info
 
involved_in fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in fatty acid transport IEA
Inferred from Electronic Annotation
more info
 
involved_in fibroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in glutamate secretion, neurotransmission IEA
Inferred from Electronic Annotation
more info
 
involved_in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in inorganic cation transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in kidney development IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane repolarization during ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in microglial cell activation IEA
Inferred from Electronic Annotation
more info
 
involved_in neuromuscular process IEA
Inferred from Electronic Annotation
more info
 
involved_in p38MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in potassium ion import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in potassium ion transmembrane transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
involved_in protein secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in reactive gliosis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of heart rate IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of monoatomic ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ATP IEA
Inferred from Electronic Annotation
more info
 
involved_in response to cytokine IEA
Inferred from Electronic Annotation
more info
 
involved_in response to endoplasmic reticulum stress IEA
Inferred from Electronic Annotation
more info
 
involved_in response to exogenous dsRNA IEA
Inferred from Electronic Annotation
more info
 
involved_in response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in response to insulin IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ischemia IEA
Inferred from Electronic Annotation
more info
 
involved_in response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
involved_in response to resveratrol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in synaptic assembly at neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
involved_in transmission of nerve impulse IEA
Inferred from Electronic Annotation
more info
 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
involved_in vasodilation IEA
Inferred from Electronic Annotation
more info
 
involved_in ventricular cardiac muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
part_of inward rectifying potassium channel IEA
Inferred from Electronic Annotation
more info
 
located_in myofibril IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of potassium ion-transporting ATPase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
 
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
 
part_of voltage-gated potassium channel complex TAS
Traceable Author Statement
more info
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_2023_10

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)