KCNK6 potassium two pore domain channel subfamily K member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNK6provided by HGNC
Official Full Name: potassium two pore domain channel subfamily K member 6provided by HGNC
Primary source: HGNC:HGNC:6281
See related: Ensembl:ENSG00000099337 MIM:603939; AllianceGenome:HGNC:6281
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: TOSS; KCNK8; TWIK2; K2p6.1; TWIK-2
Summary: This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by internal acidification and volatile anaesthetics. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in endometrium (RPKM 7.3), esophagus (RPKM 6.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (38319845..38332076)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (41122020..41134251)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (38810485..38822716)

Chromosome 19 - NC_000019.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Potassium channels, in particular K2P channels, are expressed and functional in the apical membrane of airway epithelial cells
Title: A role for two-pore K⁺ channels in modulating Na⁺ absorption and Cl⁻ secretion in normal human bronchial epithelial cells.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study.
Identification and characterization of Kcnk6 expression within the mammalian cochlea established the gene as a functional candidate for DFNA4.
Title: Genomic structure, cochlear expression, and mutation screening of KCNK6, a candidate gene for DFNA4.

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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

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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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human potassium channel, subfamily K, member 6 (KCNK6) at amino acid residues 42-43 by the HIV-1 protease	PubMed

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General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables inward rectifier potassium channel activity	TAS Traceable Author Statement more info	PubMed
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 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
involved_in negative regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of NLRP3 inflammasome complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in regulation of lysosome size	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of resting membrane potential	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in late endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated potassium channel complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: potassium channel subfamily K member 6

Names: K2P6.1 potassium channel; TWIK-originated similarity sequence; TWIK-originated sodium similarity sequence; inward rectifying potassium channel protein TWIK-2; potassium channel, two pore domain subfamily K, member 6

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.