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    KCNJ8 potassium voltage-gated channel subfamily J member 8 [ Homo sapiens (human) ]

    Gene ID: 3764, updated on 3-Jun-2018
    Official Symbol
    KCNJ8provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily J member 8provided by HGNC
    Primary source
    HGNC:HGNC:6269
    See related
    Ensembl:ENSG00000121361 MIM:600935; Vega:OTTHUMG00000169093
    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
    See KCNJ8 in Genome Data Viewer
    Location:
    12p12.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (21764955..21775593, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21917889..21928436, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369689 Neighboring gene lactate dehydrogenase B Neighboring gene uncharacterized LOC102724261 Neighboring gene ATP binding cassette subfamily C member 9 Neighboring gene VISTA enhancer hs2151 Neighboring gene thioesterase superfamily member 4 pseudogene 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • ATP sensitive Potassium channels, organism-specific biosystem (from REACTOME)
      ATP sensitive Potassium channels, organism-specific biosystemATP sensitive K+ channels couple intracellular metabolism with membrane excitability. These channels are inhibited by ATP so are open in low metabolic states and close in high metabolic states, resul...
    • Inwardly rectifying K+ channels, organism-specific biosystem (from REACTOME)
      Inwardly rectifying K+ channels, organism-specific biosystemInwardly rectifying K+ channels (Kir channels) show an inward rather than outward (like the voltage gated K+ channels) flow of K+ thereby contributing to maintenance of resting membrane potential an...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Potassium Channels, organism-specific biosystem (from REACTOME)
      Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
      cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
      cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    membrane repolarization during ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    potassium ion import IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    potassium ion import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    potassium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    response to exogenous dsRNA IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    inward rectifying potassium channel IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    myofibril IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated potassium channel complex TAS
    Traceable Author Statement
    more info
    PubMed 
    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 inwardly-rectifying channel, subfamily J, member 8

    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
      5001..14867
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004982.3NP_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
      Q15842
      UniProtKB/TrEMBL
      A0A024RAV6
      Related
      ENSP00000240662.2, OTTHUMP00000240074, ENST00000240662.2, OTTHUMT00000402226
      Conserved Domains (1) summary
      pfam01007
      Location:37370
      IRK; Inward rectifier potassium channel

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      21764955..21775593 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253358.5XP_005253415.1  ATP-sensitive inward rectifier potassium channel 8 isoform X1

      See identical proteins and their annotated locations for XP_005253415.1

      UniProtKB/Swiss-Prot
      Q15842
      UniProtKB/TrEMBL
      A0A024RAV6
      Conserved Domains (1) summary
      pfam01007
      Location:37370
      IRK; Inward rectifier potassium channel
    2. XM_017019284.2XP_016874773.1  ATP-sensitive inward rectifier potassium channel 8 isoform X1

      UniProtKB/Swiss-Prot
      Q15842
      UniProtKB/TrEMBL
      A0A024RAV6
      Conserved Domains (1) summary
      pfam01007
      Location:37370
      IRK; Inward rectifier potassium channel
    3. XM_017019283.2XP_016874772.1  ATP-sensitive inward rectifier potassium channel 8 isoform X1

      UniProtKB/Swiss-Prot
      Q15842
      UniProtKB/TrEMBL
      A0A024RAV6
      Conserved Domains (1) summary
      pfam01007
      Location:37370
      IRK; Inward rectifier potassium channel
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