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    KCNK5 potassium two pore domain channel subfamily K member 5 [ Homo sapiens (human) ]

    Gene ID: 8645, updated on 10-Dec-2024

    Summary

    Official Symbol
    KCNK5provided by HGNC
    Official Full Name
    potassium two pore domain channel subfamily K member 5provided by HGNC
    Primary source
    HGNC:HGNC:6280
    See related
    Ensembl:ENSG00000164626 MIM:603493; AllianceGenome:HGNC:6280
    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
    TASK2; K2p5.1; KCNK5b; TASK-2
    Summary
    This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in small intestine (RPKM 18.5), kidney (RPKM 17.9) and 19 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See KCNK5 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (39188971..39229475, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (39013409..39053895, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (39156747..39197251, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375046 Neighboring gene glucagon like peptide 1 receptor Neighboring gene VISTA enhancer hs2612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24488 Neighboring gene ankyrin repeat domain 18E, pseudogene Neighboring gene SAYSVFN motif domain containing 1 Neighboring gene NANOG hESC enhancer GRCh37_chr6:39099268-39099866 Neighboring gene MPRA-validated peak5798 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:39170808-39172007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39176709-39177666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:39177695-39178235 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91581 Neighboring gene Sharpr-MPRA regulatory region 4644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39197829-39198556 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:39231061-39231786 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:39231787-39232512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39240749-39241250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39241251-39241750 Neighboring gene NANOG hESC enhancer GRCh37_chr6:39259242-39259743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39264681-39265194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24489 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:39271654-39271813 Neighboring gene uncharacterized LOC105375047 Neighboring gene potassium two pore domain channel subfamily K member 17 Neighboring gene potassium two pore domain channel subfamily K member 16

    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

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11035

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables outward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables outward rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables potassium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables potassium ion leak channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in potassium ion export across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in potassium ion import across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in potassium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of regulation of resting membrane potential ISS
    Inferred from Sequence or Structural Similarity
    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
     

    General protein information

    Preferred Names
    potassium channel subfamily K member 5
    Names
    K2P5.1 potassium channel
    TWIK-related acid-sensitive K(+) channel 2
    TWIK-related acid-sensitive K+ 2
    TWIK-related acid-sensitive K+ channel 2
    acid-sensitive potassium channel protein TASK-2
    potassium channel, subfamily K, member 1 (TASK-2)
    potassium channel, subfamily, member 5 (KCNK5)
    potassium channel, two pore domain subfamily K, member 5

    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.

    mRNA and Protein(s)

    1. NM_003740.4NP_003731.1  potassium channel subfamily K member 5

      See identical proteins and their annotated locations for NP_003731.1

      Status: REVIEWED

      Source sequence(s)
      BC060793, BU608155
      Consensus CDS
      CCDS4841.1
      UniProtKB/Swiss-Prot
      B2RAQ6, B5TJL2, O95279, Q5VV76
      Related
      ENSP00000352527.3, ENST00000359534.4
      Conserved Domains (1) summary
      pfam07885
      Location:81137
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      39188971..39229475 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249456.2XP_005249513.1  potassium channel subfamily K member 5 isoform X1

      Conserved Domains (1) summary
      pfam07885
      Location:81137
      Ion_trans_2; Ion channel
    2. XM_006715235.2XP_006715298.1  potassium channel subfamily K member 5 isoform X2

      See identical proteins and their annotated locations for XP_006715298.1

      UniProtKB/TrEMBL
      A0A0B6VPR3
      Conserved Domains (1) summary
      pfam07885
      Location:161
      Ion_trans_2; Ion channel

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      39013409..39053895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356635.1XP_054212610.1  potassium channel subfamily K member 5 isoform X1

    2. XM_054356636.1XP_054212611.1  potassium channel subfamily K member 5 isoform X2

      UniProtKB/TrEMBL
      A0A0B6VPR3