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

Gene ID: 51305, updated on 1-Jun-2020

Summary

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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
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 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
mouse all

Genomic context

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See KCNK9 in Genome Data Viewer
Location:
8q24.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 Sharpr-MPRA regulatory region 3511 Neighboring gene Sharpr-MPRA regulatory region 9382 Neighboring gene uncharacterized LOC105375777 Neighboring gene Sharpr-MPRA regulatory region 15097 Neighboring gene trafficking protein particle complex 9 Neighboring gene uncharacterized LOC107986981

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. TASK-3 Gene Knockdown Dampens Invasion and Migration and Promotes Apoptosis in KATO III and MKN-45 Human Gastric Adenocarcinoma Cell Lines. Cikutović-Molina R, et al. Int J Mol Sci, 2019 Dec 2. PMID 31810225, Free PMC Article
  2. TASK-3 Downregulation Triggers Cellular Senescence and Growth Inhibition in Breast Cancer Cell Lines. Zúñiga R, et al. Int J Mol Sci, 2018 Mar 29. PMID 29596383, Free PMC Article
  3. Terbinafine is a novel and selective activator of the two-pore domain potassium channel TASK3. Wright PD, et al. Biochem Biophys Res Commun, 2017 Nov 4. PMID 28882594
  4. KCNK9 Imprinting Syndrome Zadeh N, et al. , 1993. PMID 28333430
  5. KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. Graham JM Jr, et al. Am J Med Genet A, 2016 Oct. PMID 27151206

See all (80) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. cell migration and invasion are reduced after knocking down TASK-3 in these cell lines. The present study highlights TASK-3 as a key protein involved in migration and cell survival in gastric cancer and corroborates its potential as a therapeutic target for gastric cancer treatment.
    Title: <i>TASK-3</i> Gene Knockdown Dampens Invasion and Migration and Promotes Apoptosis in KATO III and MKN-45 Human Gastric Adenocarcinoma Cell Lines.
  2. observations implicate TASK-3 as a critical factor in cell cycle progression and corroborate its potential as a therapeutic target in breast cancer treatment.
    Title: TASK-3 Downregulation Triggers Cellular Senescence and Growth Inhibition in Breast Cancer Cell Lines.
  3. point mutations in DLK1 and KCNK9 at least do not seem to be a common cause of central precocious puberty in girls.
    Title: Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty.
  4. In conclusion, we have identified the first selective activator of the two-pore domain potassium channel TASK3.
    Title: Terbinafine is a novel and selective activator of the two-pore domain potassium channel TASK3.
  5. KCNK9 imprinting syndrome is a rare cause of intellectual disability, congenital hypotonia, palatal abnormalities, and occasional seizures.
    Title: KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
  6. Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women.
    Title: Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat.
  7. TASK-1 and TASK-3 may form heterodimers in human atrial cardiomyocytes.
    Title: TASK-1 and TASK-3 may form heterodimers in human atrial cardiomyocytes.
  8. During conductance simulation experiments, both TASK-3 and TREK-1 channels were able to repolarise the membrane once AP threshold was reached
    Title: Two-pore domain potassium channels enable action potential generation in the absence of voltage-gated potassium channels.
  9. The findings of this study suggest that variations in KCNK9 genes are associated with both mild and severe persistent breast pain after breast cancer surgery.
    Title: Variations in potassium channel genes are associated with distinct trajectories of persistent breast pain after breast cancer surgery.
  10. Diacylglycerol mediates regulation of TASK1 and TASK3 potassium channels by GNAQ.
    Title: Diacylglycerol mediates regulation of TASK potassium channels by Gq-coupled receptors.
Submit: New GeneRIF Correction See all GeneRIFs (45)

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

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

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

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

HIV-1 interactions

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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

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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

  • FLJ33388, FLJ37082, FLJ37885, MGC138268, MGC138270

Gene Ontology Provided by GOA

Function Evidence Code Pubs
potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
potassium ion leak channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
voltage-gated potassium channel activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
potassium ion import across plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
potassium ion transport NAS
Non-traceable Author Statement
more info
 PubMed 
stabilization of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
plasma membrane TAS
Traceable Author Statement
more info
  
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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)

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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.

Genomic

  1. NG_012842.3 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001282534.2 → NP_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)
    AC007869, AF212829, AF248241, AW085193, BX092753, DA416784
    Consensus CDS
    CCDS6377.1
    UniProtKB/Swiss-Prot
    Q9NPC2
    UniProtKB/TrEMBL
    A0A024R9H3
    Related
    ENSP00000430676.1, ENST00000520439.3
    Conserved Domains (1) summary
    pfam07885
    Location:77 → 132
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011517102.2 → XP_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
    ENSP00000498160.1, ENST00000649473.1
    Conserved Domains (1) summary
    pfam07885
    Location:77 → 132
    Ion_trans_2; Ion channel

  2. XM_011517101.2 → XP_011515403.1  potassium channel subfamily K member 9 isoform X1

    Conserved Domains (1) summary
    pfam07885
    Location:77 → 132
    Ion_trans_2; Ion channel

  3. XM_017013530.1 → XP_016869019.1  potassium channel subfamily K member 9 isoform X4

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

    Conserved Domains (1) summary
    pfam07885
    Location:60 → 133
    Ion_trans_2; Ion channel

  5. XM_017013531.1 → XP_016869020.1  potassium channel subfamily K member 9 isoform X4

    Related
    ENST00000523477.2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NPC2.1 GenPept UniProtKB/Swiss-Prot:Q9NPC2

Gene LinkOut

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