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

Gene ID: 3764, updated on 9-Jun-2020

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
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

Genomic context

See KCNJ8 in Genome Data Viewer
Location:
12p12.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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

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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
inorganic cation transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane repolarization during ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
potassium ion import across plasma membrane 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 transmembrane transport NAS
Non-traceable Author Statement
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 
Component Evidence Code Pubs
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
potassium ion-transporting ATPase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
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)

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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 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
    Related
    ENSP00000499300.1, ENST00000665145.1
    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
    Related
    ENSP00000499462.1, ENST00000667884.1
    Conserved Domains (1) summary
    pfam01007
    Location:37370
    IRK; Inward rectifier potassium channel
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