KCNK13 potassium two pore domain channel subfamily K member 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNK13provided by HGNC
Official Full Name: potassium two pore domain channel subfamily K member 13provided by HGNC
Primary source: HGNC:HGNC:6275
See related: Ensembl:ENSG00000152315 MIM:607367; AllianceGenome:HGNC:6275
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: THIK1; THIK-1; K2p13.1
Summary: Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013]
Expression: Biased expression in testis (RPKM 6.7), kidney (RPKM 2.6) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.11

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (90061994..90185853)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (84286196..84410029)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (90528338..90652197)

Chromosome 14 - NC_000014.9 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 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?

Regulation of the two-pore domain potassium channel, THIK-1 and THIK-2, by G protein coupled receptors.
Title: Regulation of the two-pore domain potassium channel, THIK-1 and THIK-2, by G protein coupled receptors.
Dysregulation of a potassium channel, THIK-1, targeted by caspase-8, accelerates cell shrinkage.
Title: Dysregulation of a potassium channel, THIK-1, targeted by caspase-8 accelerates cell shrinkage.
In cell and tissues co-expressing THIK1 and THIK2, heterodimeric channels may contribute to cell excitability.
Title: Tandem pore domain halothane-inhibited K+ channel subunits THIK1 and THIK2 assemble and form active channels.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
THIK-1 and THIK-2 are abundantly expressed in the proximal and distal nephron of the mammalian kidney.
Title: Cellular localization of THIK-1 (K(2P)13.1) and THIK-2 (K(2P)12.1) K channels in the mammalian kidney.
expression in cell hypoxia
Title: Acute hypoxic regulation of recombinant THIK-1 stably expressed in HEK293 cells.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-84444 (e-PCR)
- UniSTS:104742

SHGC-144169 (e-PCR)
- UniSTS:174150

G35936 (e-PCR)
- UniSTS:52324

D14S922 (e-PCR)
- UniSTS:3705

RH104139 (e-PCR)
- UniSTS:98464

D14S961 (e-PCR)
- UniSTS:55977

KCNK13_1417 (e-PCR)
- UniSTS:277426

KCNK13_v467 (e-PCR)
- UniSTS:277426

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IDA Inferred from Direct Assay 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
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 transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of NLRP3 inflammasome complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of excitatory synapse pruning	ISS Inferred from Sequence or Structural Similarity more info
involved_in 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
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: potassium channel subfamily K member 13

Names: K2P13.1 potassium channel; potassium channel, subfamily K, member 13; potassium channel, two pore domain subfamily K, member 13; tandem pore domain halothane-inhibited potassium channel 1; tandem pore domain potassium channel THIK-1

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.