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

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: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (139600838..139703123, complement)
110	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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Title: Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Epigenomic Analysis Reveals the KCNK9 Potassium Channel as a Potential Therapeutic Target for Adenomyosis.
Title: Epigenomic Analysis Reveals the KCNK9 Potassium Channel as a Potential Therapeutic Target for Adenomyosis.
Expression of Proton-Sensitive GPR31, GPR151, TASK1 and TASK3 in Common Skin Tumors.
Title: Expression of Proton-Sensitive GPR31, GPR151, TASK1 and TASK3 in Common Skin Tumors.
5-(Indol-2-yl)pyrazolo[3,4-b]pyridines as a New Family of TASK-3 Channel Blockers: A Pharmacophore-Based Regioselective Synthesis.
Title: 5-(Indol-2-yl)pyrazolo[3,4-<i>b</i>]pyridines as a New Family of TASK-3 Channel Blockers: A Pharmacophore-Based Regioselective Synthesis.
Effects of the ventilatory stimulant, doxapram on human TASK-3 (KCNK9, K2P9.1) channels and TASK-1 (KCNK3, K2P3.1) channels.
Title: Effects of the ventilatory stimulant, doxapram on human TASK-3 (KCNK9, K2P9.1) channels and TASK-1 (KCNK3, K2P3.1) channels.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (50)

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481318

NoName (e-PCR)
- UniSTS:482342

NoName (e-PCR)
- UniSTS:489017

D8S1743 (e-PCR)
- UniSTS:69722

KCNK9_889 (e-PCR)
- UniSTS:277430

KCNK9_V184 (e-PCR)
- UniSTS:277430

G62869 (e-PCR)
- UniSTS:139994

D8S1741 (e-PCR)
- UniSTS:14304

Homology

Homologs of the KCNK9 gene: The KCNK9 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 448 organisms have orthologs with human gene KCNK9
Orthologs

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	PubMed
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	PubMed

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	PubMed
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	PubMed

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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

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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

NG_012842.3 RefSeqGene

Range

4934..90936

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1042

mRNA and Protein(s)

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

Q540F2, Q9NPC2

UniProtKB/TrEMBL

A0A024R9H3

Related

ENSP00000430676.1, ENST00000520439.3

Conserved Domains (1) summary

pfam07885
Location:77 → 132

Ion_trans_2; Ion channel

RNA

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