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    KCNK7 potassium two pore domain channel subfamily K member 7 [ Homo sapiens (human) ]

    Gene ID: 10089, updated on 5-Mar-2024

    Summary

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    Official Symbol
    KCNK7provided by HGNC
    Official Full Name
    potassium two pore domain channel subfamily K member 7provided by HGNC
    Primary source
    HGNC:HGNC:6282
    See related
    Ensembl:ENSG00000173338 MIM:603940; AllianceGenome:HGNC:6282
    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
    TWIK3; K2p7.1
    Summary
    This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in skin (RPKM 11.7), esophagus (RPKM 2.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65592836..65595800, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65587069..65590033, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65360307..65363271, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3543 Neighboring gene Sharpr-MPRA regulatory region 14514 Neighboring gene family with sequence similarity 89 member B Neighboring gene uncharacterized LOC124902692 Neighboring gene EH domain binding protein 1 like 1 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:65355424-65355944 and GRCh37_chr11:65355945-65356464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65356597-65357098 Neighboring gene mitogen-activated protein kinase kinase kinase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65380127-65381014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3545 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65381903-65382789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3546 Neighboring gene pecanex 3 Neighboring gene microRNA 4690

    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
    • 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. Distribution analysis of human two pore domain potassium channels in tissues of the central nervous system and periphery. Medhurst AD, et al. Brain Res Mol Brain Res, 2001 Jan 31. PMID 11165377
    2. Cloning of a new mouse two-P domain channel subunit and a human homologue with a unique pore structure. Salinas M, et al. J Biol Chem, 1999 Apr 23. PMID 10206991
    3. Potassium leak channels and the KCNK family of two-P-domain subunits. Goldstein SA, et al. Nat Rev Neurosci, 2001 Mar. PMID 11256078
    4. International Union of Pharmacology. LV. Nomenclature and molecular relationships of two-P potassium channels. Goldstein SA, et al. Pharmacol Rev, 2005 Dec. PMID 16382106
    5. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC118782, MGC118784

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables outward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables potassium channel activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables potassium ion leak channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in stabilization of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of monoatomic ion channel complex 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
    		  

    General protein information

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    Preferred Names
    potassium channel subfamily K member 7
    Names
    potassium channel, two pore domain subfamily K, member 7
    two pore domain K+ channel

    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_005714.2 → NP_005705.1  potassium channel subfamily K member 7 isoform C

      See identical proteins and their annotated locations for NP_005705.1

      Status: REVIEWED

      Source sequence(s)
      AP001362
      Consensus CDS
      CCDS41673.1
      UniProtKB/TrEMBL
      Q3SYI1
      Related
      ENSP00000377764.2, ENST00000394216.6
      Conserved Domains (2) summary
      TIGR02551
      Location:36 → 195
      SpaO_YscQ; type III secretion system apparatus protein YscQ/HrcQ
      pfam07885
      Location:90 → 140
      Ion_trans_2; Ion channel

    2. NM_033347.2 → NP_203133.1  potassium channel subfamily K member 7 isoform A

      See identical proteins and their annotated locations for NP_203133.1

      Status: REVIEWED

      Source sequence(s)
      AP001362
      Consensus CDS
      CCDS31608.1
      UniProtKB/Swiss-Prot
      Q3SYI2, Q9Y2U2, Q9Y2U3, Q9Y2U4
      UniProtKB/TrEMBL
      Q3MI97
      Related
      ENSP00000344820.5, ENST00000340313.5
      Conserved Domains (1) summary
      pfam07885
      Location:90 → 140
      Ion_trans_2; Ion channel

    3. NM_033348.2 → NP_203134.1  potassium channel subfamily K member 7 isoform B

      See identical proteins and their annotated locations for NP_203134.1

      Status: REVIEWED

      Source sequence(s)
      AP001362
      Consensus CDS
      CCDS8106.1
      UniProtKB/TrEMBL
      Q3SYI1
      Related
      ENSP00000377765.2, ENST00000394217.6
      Conserved Domains (1) summary
      pfam07885
      Location:90 → 140
      Ion_trans_2; Ion channel

    4. NM_033455.2 → NP_258416.1  potassium channel subfamily K member 7 isoform B

      See identical proteins and their annotated locations for NP_258416.1

      Status: REVIEWED

      Source sequence(s)
      AP001362
      Consensus CDS
      CCDS8106.1
      UniProtKB/TrEMBL
      Q3SYI1
      Related
      ENSP00000343923.4, ENST00000342202.8
      Conserved Domains (1) summary
      pfam07885
      Location:90 → 140
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      65592836..65595800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65587069..65590033 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033456.1: Suppressed sequence

      Description
      NM_033456.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2U2.1 GenPept UniProtKB/Swiss-Prot:Q9Y2U2

    Gene LinkOut

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

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