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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

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