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    KCNK9 potassium two pore domain channel subfamily K member 9 [ Homo sapiens (human) ]

    Gene ID: 51305, updated on 21-May-2017
    Official Symbol
    KCNK9provided by HGNC
    Official Full Name
    potassium two pore domain channel subfamily K member 9provided by HGNC
    Primary source
    HGNC:HGNC:6283
    See related
    Ensembl:ENSG00000169427 MIM:605874; Vega:OTTHUMG00000164186
    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
    KT3.2; TASK3; K2p9.1; TASK-3
    Summary
    This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel mental retardation dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Orthologs
    Location:
    8q24.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (139600838..139703135, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (140613081..140715299, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 135 member B Neighboring gene collagen type XXII alpha 1 chain Neighboring gene uncharacterized LOC105375777 Neighboring gene uncharacterized LOC107986981 Neighboring gene trafficking protein particle complex 9 Neighboring gene uncharacterized LOC105375781

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Birk Barel mental retardation dysmorphism syndrome
    MedGen: C2676770 OMIM: 612292 GeneReviews: KCNK9 Imprinting Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-02-29)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-02-29)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies for circulating phylloquinone concentrations.
    NHGRI GWA Catalog
    Novel locus FER is associated with serum HMW adiponectin levels.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of potassium channel, subfamily K, member 9 (KCNK9) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Overexpression of TASK-3 decreases intracellular HIV-1 Gag expression PubMed

    Go to the HIV-1, Human Interaction Database

    • Aldosterone synthesis and secretion, organism-specific biosystem (from KEGG)
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    • Aldosterone synthesis and secretion, conserved biosystem (from KEGG)
      Aldosterone synthesis and secretion, conserved biosystemAldosterone is a steroid hormone synthesized in and secreted from the outer layer of the adrenal cortex, the zona glomerulosa. Aldosterone plays an important role in the regulation of systemic blood ...
    • 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...
    • Nicotine Activity on Dopaminergic Neurons, organism-specific biosystem (from WikiPathways)
      Nicotine Activity on Dopaminergic Neurons, organism-specific biosystemNicotine is an alkaloid found in tobacco plants. It is a substance that acts as a stimulant in humans and is one of the main factors responsible for tobacco dependence. When nicotine enters the body,...
    • 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 ...
    • TWIK-releated acid-sensitive K+ channel (TASK), organism-specific biosystem (from REACTOME)
      TWIK-releated acid-sensitive K+ channel (TASK), organism-specific biosystemTASK 1 and 3 are closely related both structurally and functionally. TASK1 and TASK3 are activated by extracellular acidification and inhibited by decrease in pH. TASK 1 and Task 3 form functional ho...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ33388, FLJ37082, FLJ37885, MGC138268, MGC138270

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    potassium channel activity TAS
    Traceable Author Statement
    more info
     
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated potassium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    potassium ion transport NAS
    Non-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 membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    potassium channel subfamily K member 9
    Names
    TWIK-related acid-sensitive K(+) channel 3
    acid-sensitive potassium channel protein TASK-3
    potassium channel, two pore domain subfamily K, member 9
    two pore K(+) channel KT3.2
    two pore potassium channel KT3.2

    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_012842.2 RefSeqGene

      Range
      5001..90936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282534.1NP_001269463.1  potassium channel subfamily K member 9

      See identical proteins and their annotated locations for NP_001269463.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.
      Source sequence(s)
      AF212829, AF248241, AW085193, BX092753, DA416784
      Consensus CDS
      CCDS6377.1
      UniProtKB/Swiss-Prot
      Q9NPC2
      UniProtKB/TrEMBL
      A0A024R9H3
      Related
      ENSP00000430676.1, OTTHUMP00000226550, ENST00000520439.1, OTTHUMT00000378473
      Conserved Domains (1) summary
      pfam07885
      Location:77132
      Ion_trans_2; Ion channel

    RNA

    1. NR_104210.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a 3' segment and contains two additional 3' exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF212829, AF248241, AF257080, AK090707, R38554

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      139600838..139703135 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517102.2XP_011515404.1  potassium channel subfamily K member 9 isoform X2

      See identical proteins and their annotated locations for XP_011515404.1

      UniProtKB/Swiss-Prot
      Q9NPC2
      UniProtKB/TrEMBL
      A0A024R9H3
      Related
      ENSP00000429847.1, OTTHUMP00000226147, ENST00000522317.5, OTTHUMT00000377710
      Conserved Domains (1) summary
      pfam07885
      Location:77132
      Ion_trans_2; Ion channel
    2. XM_011517101.2XP_011515403.1  potassium channel subfamily K member 9 isoform X1

      Conserved Domains (1) summary
      pfam07885
      Location:77132
      Ion_trans_2; Ion channel
    3. XM_017013530.1XP_016869019.1  potassium channel subfamily K member 9 isoform X4

    4. XM_011517103.2XP_011515405.1  potassium channel subfamily K member 9 isoform X3

      Conserved Domains (1) summary
      pfam07885
      Location:60133
      Ion_trans_2; Ion channel
    5. XM_017013531.1XP_016869020.1  potassium channel subfamily K member 9 isoform X4

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      140653374..140755502 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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