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

Gene ID: 3764, updated on 17-Jan-2015
Official Symbol
KCNJ8provided by HGNC
Official Full Name
potassium channel, inwardly rectifying subfamily J, member 8provided by HGNC
Primary source
HGNC:HGNC:6269
See related
Ensembl:ENSG00000121361; HPRD:02962; 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]
Orthologs
See KCNJ8 in MapViewer
Location:
12p11.23
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (21764955..21775566, 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 lactate dehydrogenase B Neighboring gene uncharacterized LOC102724261 Neighboring gene ATP-binding cassette, sub-family C (CFTR/MRP), member 9 Neighboring gene uncharacterized LOC102724274 Neighboring gene thioesterase superfamily member 4 pseudogene 1

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 ...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    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

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-activated inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
NOT G-protein activated inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
inward rectifier potassium channel activity TAS
Traceable Author Statement
more info
PubMed 
sulfonylurea receptor binding IEA
Inferred from Electronic Annotation
more info
 
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
 
potassium ion import IBA
Inferred from Biological aspect of Ancestor
more info
 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
regulation of ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
response to exogenous dsRNA IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to pH IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
 
vasodilation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ATP-sensitive potassium channel complex 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
ATP-sensitive inward rectifier potassium channel 8
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 

    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 proteins identical to NP_004973.1

    Status: REVIEWED

    Source sequence(s)
    AL546327, BQ003792, D50312
    Consensus CDS
    CCDS8692.1
    UniProtKB/TrEMBL
    A0A024RAV6
    UniProtKB/Swiss-Prot
    Q15842
    Related
    ENSP00000240662, OTTHUMP00000240074, ENST00000240662, OTTHUMT00000402226
    Conserved Domains (1) summary
    pfam01007
    Location:37374
    IRK; Inward rectifier potassium channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    21764955..21775566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253358.2XP_005253415.1  

    See proteins identical to XP_005253415.1

    UniProtKB/TrEMBL
    A0A024RAV6
    UniProtKB/Swiss-Prot
    Q15842
    Conserved Domains (1) summary
    pfam01007
    Location:37374
    IRK; Inward rectifier potassium channel

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    21883171..21893034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    21691442..21701306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)