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

Gene ID: 10089, updated on 12-Aug-2018
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; Vega:OTTHUMG00000166528
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
See KCNK7 in Genome Data Viewer
Location:
11q13.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (65592855..65595996, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65360326..65363467, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 89 member B Neighboring gene EH domain binding protein 1 like 1 Neighboring gene mitogen-activated protein kinase kinase kinase 11 Neighboring gene pecanex 3 Neighboring gene microRNA 4690

  • 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 Jun 15 11:32:44 2016

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Phase 4 - resting membrane potential, organism-specific biosystem (from REACTOME)
    Phase 4 - resting membrane potential, organism-specific biosystemPhase 4 describes the membrane potential when a cell is not being stimulated. The normal resting potential in the ventricular myocardium is between -85 to -95 mV. The membrane is most permeable to K+...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK), organism-specific biosystem (from REACTOME)
    Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK), organism-specific biosystemTWIK channels exhibit very low current and comprise of TWIK1, TWIK2 and KCNK7 members. TWIK current may be low due to rapid recycling of the channels from the plasma membrane.
  • Tandem pore domain potassium channels, organism-specific biosystem (from REACTOME)
    Tandem pore domain potassium channels, organism-specific biosystemTandem pore domain K+ channels (K2p) produce leak K+ current which stabilizes negative membrane potential and counter balances depolarization. These channels are regulated by voltage independent mech...

Markers

Homology

Clone Names

  • MGC118782, MGC118784

Gene Ontology Provided by GOA

Function Evidence Code Pubs
potassium channel activity TAS
Traceable Author Statement
more info
 
potassium ion leak channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
potassium channel subfamily K member 7
Names
potassium channel, subfamily K, member 7
potassium channel, two pore domain subfamily K, member 7
two pore domain K+ channel

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

    See identical proteins and their annotated locations for NP_005705.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) is not spliced in the 3' region, compared to variant A. The resulting isoform (C) is shorter and has a distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AF110524
    Consensus CDS
    CCDS41673.1
    UniProtKB/Swiss-Prot
    Q9Y2U2
    UniProtKB/TrEMBL
    A0A024R5F5
    Related
    ENSP00000377764.2, OTTHUMP00000233244, ENST00000394216.6, OTTHUMT00000390205
    Conserved Domains (2) summary
    TIGR02551
    Location:36195
    SpaO_YscQ; type III secretion system apparatus protein YscQ/HrcQ
    pfam07885
    Location:90140
    Ion_trans_2; Ion channel
  2. NM_033347.1NP_203133.1  potassium channel subfamily K member 7 isoform A precursor

    See identical proteins and their annotated locations for NP_203133.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) is the shortest transcript but encodes the longest isoform (A).
    Source sequence(s)
    AF110522
    Consensus CDS
    CCDS31608.1
    UniProtKB/Swiss-Prot
    Q9Y2U2
    Related
    ENSP00000344820.4, OTTHUMP00000233245, ENST00000340313.4, OTTHUMT00000390206
    Conserved Domains (1) summary
    pfam07885
    Location:90140
    Ion_trans_2; Ion channel
  3. NM_033348.1NP_203134.1  potassium channel subfamily K member 7 isoform B precursor

    See identical proteins and their annotated locations for NP_203134.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) has an additional exon in the 3' region, compared to variant A. The resulting isoform (B) is shorter and has a distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AF110523
    Consensus CDS
    CCDS8106.1
    UniProtKB/Swiss-Prot
    Q9Y2U2
    UniProtKB/TrEMBL
    A0A024R5B0
    Related
    ENSP00000377765.2, OTTHUMP00000233243, ENST00000394217.6, OTTHUMT00000390204
    Conserved Domains (1) summary
    pfam07885
    Location:90140
    Ion_trans_2; Ion channel
  4. NM_033455.1NP_258416.1  potassium channel subfamily K member 7 isoform B precursor

    See identical proteins and their annotated locations for NP_258416.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (D) has an alternate splice site in the 3' region, compared to variant A. The resulting isoform (B) is shorter and has a distinct C-terminus, compared to isoform A. Both variants B and D encode the same isoform (B).
    Source sequence(s)
    AF110522, AF110523, BC103810
    Consensus CDS
    CCDS8106.1
    UniProtKB/Swiss-Prot
    Q9Y2U2
    UniProtKB/TrEMBL
    A0A024R5B0, Q3SYI1
    Related
    ENSP00000343923.4, OTTHUMP00000233242, ENST00000342202.8, OTTHUMT00000390203
    Conserved Domains (1) summary
    pfam07885
    Location:90140
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    65592855..65595996 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.
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