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

Gene ID: 3763, updated on 17-Sep-2024

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; AllianceGenome:HGNC:6267
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
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Genomic context

See KCNJ6 in Genome Data Viewer
Location:
21q22.13
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (37607373..37916457, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (35989771..36299971, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38979675..39288760, 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 NANOG-H3K27ac hESC enhancer GRCh37_chr21:38856065-38856652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38918848-38919348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38919349-38919849 Neighboring gene KCNJ6 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18455 Neighboring gene uncharacterized LOC105372798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13308 Neighboring gene Sharpr-MPRA regulatory region 302 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr21:38960011-38960798 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38965447-38966286 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:38964609-38965446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39020347-39020847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39039721-39040443 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39040444-39041167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39047357-39048256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39054697-39055209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13309 Neighboring gene uncharacterized LOC101928368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39127657-39128504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39200662-39201384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39201385-39202107 Neighboring gene VISTA enhancer hs1811 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:39261680-39261872 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:39345582-39346781 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 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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC126596

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G-protein activated inward rectifier potassium channel activity IEA
Inferred from Electronic Annotation
more info
 
enables inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of monoatomic ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 

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)

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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_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, Q3MJ74, Q53WW6
    Related
    ENSP00000477437.1, ENST00000609713.2
    Conserved Domains (2) summary
    pfam01007
    Location:57196
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:203375
    IRK_C; Inward rectifier potassium channel C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    35989771..36299971 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)