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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)

    NEW Try the new Transcript table

    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)