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

Gene ID: 51305, updated on 17-Jun-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)

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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), 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)