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

    Gene ID: 51305, updated on 21-May-2024

    Summary

    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; AllianceGenome:HGNC:6283
    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; BIBARS; K2p9.1; TASK-3; TASK32
    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 dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
    Expression
    Biased expression in adrenal (RPKM 2.3) and brain (RPKM 2.1) See more
    Orthologs
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    Genomic context

    See KCNK9 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (139600838..139703123, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (140720918..140823244, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (140613081..140715366, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 135 member B Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:139357155-139357654 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:139555607-139556806 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:139706354-139706854 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:139706855-139707355 Neighboring gene collagen type XXII alpha 1 chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:139782916-139783886 Neighboring gene MPRA-validated peak7186 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:139806119-139806619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:139860841-139861342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:139925385-139926230 Neighboring gene Sharpr-MPRA regulatory region 3511 Neighboring gene Sharpr-MPRA regulatory region 9382 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:139966492-139967180 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:139965113-139965801 Neighboring gene NANOG hESC enhancer GRCh37_chr8:140009858-140010359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140033795-140034296 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:140181537-140182736 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:140221580-140221764 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:140227217-140228416 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:140294263-140294817 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:140416894-140417542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19572 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:140441119-140441619 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:140440618-140441118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:140471614-140472148 Neighboring gene Sharpr-MPRA regulatory region 3867 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19573 Neighboring gene Sharpr-MPRA regulatory region 15097 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140748966-140749712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140762149-140762649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140784193-140784820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140842647-140843284 Neighboring gene Sharpr-MPRA regulatory region 11049 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:140850306-140850830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140850831-140851354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:140853452-140853976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140856599-140857122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:140860017-140860572 Neighboring gene uncharacterized LOC107986981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140875463-140876436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140886258-140886840 Neighboring gene trafficking protein particle complex subunit 9 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:140906595-140907794 Neighboring gene MPRA-validated peak7187 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140920429-140920932 Neighboring gene uncharacterized LOC105375781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140926649-140927188

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Birk-Barel 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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ33388, FLJ37082, FLJ37885, MGC138268, MGC138270

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables potassium ion leak channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within potassium ion import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in potassium ion transport NAS
    Non-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
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    potassium channel subfamily K member 9
    Names
    TWIK-related acid-sensitive K(+) channel 3
    TWIK-related acid-sensitive K+ 3
    acid-sensitive potassium channel protein TASK-3
    potassium 2-pore domain leak channel TASK3
    potassium channel, two pore domain subfamily K, member 9
    two pore K(+) channel KT3.2
    two pore potassium channel KT3.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012842.3 RefSeqGene

      Range
      4934..90936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1042

    mRNA and Protein(s)

    1. NM_001282534.2NP_001269463.1  potassium channel subfamily K member 9 precursor

      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)
      AC007869, AF212829, AF248241, AW085193, BX092753, DA416784
      Consensus CDS
      CCDS6377.1
      UniProtKB/Swiss-Prot
      Q2M290, Q540F2, Q9NPC2
      UniProtKB/TrEMBL
      A0A3B3IU12
      Related
      ENSP00000430676.1, ENST00000520439.3
      Conserved Domains (1) summary
      pfam07885
      Location:77132
      Ion_trans_2; Ion channel

    RNA

    1. NR_104210.2 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)
      AC007869, AF212829, AF248241, AF257080, AK090707, R38554
      Related
      ENST00000523477.2

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      139600838..139703123 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      140720918..140823244 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)