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    KCNJ14 potassium inwardly rectifying channel subfamily J member 14 [ Homo sapiens (human) ]

    Gene ID: 3770, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KCNJ14provided by HGNC
    Official Full Name
    potassium inwardly rectifying channel subfamily J member 14provided by HGNC
    Primary source
    HGNC:HGNC:6260
    See related
    Ensembl:ENSG00000182324 MIM:603953; AllianceGenome:HGNC:6260
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IRK4; KIR2.4
    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, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013]
    Expression
    Broad expression in testis (RPKM 1.5), skin (RPKM 1.2) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNJ14 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48455574..48466980)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51449735..51461143)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48958831..48970237)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48876382-48876882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48876883-48877383 Neighboring gene synaptogyrin 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10878 Neighboring gene KDEL endoplasmic reticulum protein retention receptor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48899313-48899496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10880 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48903941-48904482 Neighboring gene Sharpr-MPRA regulatory region 12315 Neighboring gene glutamate ionotropic receptor NMDA type subunit 2D Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48917645-48918366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48921924-48922690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14894 Neighboring gene Sharpr-MPRA regulatory region 8588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48947127-48947818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14895 Neighboring gene glutamate rich WD repeat containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48964846-48965804 Neighboring gene uncharacterized LOC105372430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48971727-48972227 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48972285-48973278 Neighboring gene MPRA-validated peak3539 silencer Neighboring gene cytohesin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48993225-48993796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10884 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48996420-48996611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:48997173-48997673 Neighboring gene lemur tyrosine kinase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10888

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Comprehensive Analysis of KCNJ14 Potassium Channel as a Biomarker for Cancer Progression and Development. Alasiri G. Int J Mol Sci, 2023 Jan 20. PMID 36768373, Free PMC Article
    2. KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells. Li B, et al. BMC Med Genomics, 2022 Sep 13. PMID 36100894, Free PMC Article
    3. Functional expression of inward rectifier potassium channels in cultured human pulmonary smooth muscle cells: evidence for a major role of Kir2.4 subunits. Tennant BP, et al. J Membr Biol, 2006. PMID 17347781, Free PMC Article
    4. Cloning and functional expression of human retinal kir2.4, a pH-sensitive inwardly rectifying K(+) channel. Hughes BA, et al. Am J Physiol Cell Physiol, 2000 Sep. PMID 10942728
    5. Cloning, structure and assignment to chromosome 19q13 of the human Kir2.4 inwardly rectifying potassium channel gene (KCNJ14). Töpert C, et al. Mamm Genome, 2000 Mar. PMID 10723734

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive Analysis of KCNJ14 Potassium Channel as a Biomarker for Cancer Progression and Development.
      Title: Comprehensive Analysis of KCNJ14 Potassium Channel as a Biomarker for Cancer Progression and Development.
    2. KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells.
      Title: KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
    4. Kir2.2 and Kir2.1 are primary determinants of endogenous K(+) conductance in HAECs under resting conditions and that Kir2.2 provides the dominant conductance in these cells.
      Title: Functional expression of Kir2.x in human aortic endothelial cells: the dominant role of Kir2.2.
    5. Using patch-clamp techniques, we characterized K(IR) channels in cultured pulmonary artery smooth muscle cells and compared them to cloned Kir2.1 and Kir2.4 channels
      Title: Functional expression of inward rectifier potassium channels in cultured human pulmonary smooth muscle cells: evidence for a major role of Kir2.4 subunits.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Potential readthrough

    Included gene: GRWD1

    Homology

    Clone Names

    • KIAA1942, MGC46111

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables inward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in potassium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of voltage-gated potassium channel complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ATP-sensitive inward rectifier potassium channel 14
    Names
    inward rectifier K(+) channel Kir2.4
    inwardly rectifying potassium channel KIR2.4
    potassium channel, inwardly rectifying subfamily J member 14
    potassium voltage-gated channel subfamily J member 14

    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.

    mRNA and Protein(s)

    1. NM_013348.4 → NP_037480.1  ATP-sensitive inward rectifier potassium channel 14

      See identical proteins and their annotated locations for NP_037480.1

      Status: VALIDATED

      Source sequence(s)
      AC008403, AF081466
      Consensus CDS
      CCDS12721.1
      UniProtKB/Swiss-Prot
      Q9UNX9
      Related
      ENSP00000341479.1, ENST00000342291.3
      Conserved Domains (1) summary
      pfam01007
      Location:53 → 378
      IRK; Inward rectifier potassium channel

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48455574..48466980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51449735..51461143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_170720.1: Suppressed sequence

      Description
      NM_170720.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UNX9.1 GenPept UniProtKB/Swiss-Prot:Q9UNX9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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