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KCNJ6 potassium inwardly rectifying channel subfamily J member 6 [ Homo sapiens (human) ]

Gene ID: 3763, updated on 7-Jun-2020

Summary

Official Symbol
KCNJ6provided by HGNC
Official Full Name
potassium inwardly rectifying channel subfamily J member 6provided by HGNC
Primary source
HGNC:HGNC:6267
See related
Ensembl:ENSG00000157542 MIM:600877
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
BIR1; GIRK2; KATP2; KCNJ7; KPLBS; GIRK-2; KATP-2; KIR3.2; hiGIRK2
Summary
This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]
Expression
Biased expression in brain (RPKM 1.1), stomach (RPKM 0.3) and 7 other tissues See more
Orthologs

Genomic context

See KCNJ6 in Genome Data Viewer
Location:
21q22.13
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (37607373..37916457, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38996778..39288741, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 1A Neighboring gene uncharacterized LOC105372797 Neighboring gene uncharacterized LOC105372798 Neighboring gene Sharpr-MPRA regulatory region 302 Neighboring gene uncharacterized LOC107985507 Neighboring gene KCNJ6 antisense RNA 1 Neighboring gene uncharacterized LOC101928368 Neighboring gene VISTA enhancer hs1811 Neighboring gene Down syndrome critical region 4 Neighboring gene Down syndrome critical region 8

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?

Phenotypes

Associated conditions

Description Tests
Keppen-Lubinsky syndrome
MedGen: C3279800 OMIM: 614098 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126596

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein activated inward rectifier potassium channel activity IEA
Inferred from Electronic Annotation
more info
 
inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
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
Golgi apparatus HDA PubMed 
plasma membrane HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
G protein-activated inward rectifier potassium channel 2
Names
inward rectifier K(+) channel Kir3.2
inward rectifier potassium channel KIR3.2
potassium channel, inwardly rectifying subfamily J, member 6
potassium voltage-gated channel subfamily J member 6

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_029892.2 RefSeqGene

    Range
    4956..297171
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002240.5NP_002231.1  G protein-activated inward rectifier potassium channel 2

    See identical proteins and their annotated locations for NP_002231.1

    Status: REVIEWED

    Source sequence(s)
    AP001407, AP001419, AP001427, BC101547, D87327, DR000377, HY332424, KF457262
    Consensus CDS
    CCDS42927.1
    UniProtKB/Swiss-Prot
    P48051
    Related
    ENSP00000477437.1, ENST00000609713.2
    Conserved Domains (1) summary
    pfam01007
    Location:57378
    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_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    37607373..37916457 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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