KCNK12 potassium two pore domain channel subfamily K member 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNK12provided by HGNC
Official Full Name: potassium two pore domain channel subfamily K member 12provided by HGNC
Primary source: HGNC:HGNC:6274
See related: Ensembl:ENSG00000184261 MIM:607366; AllianceGenome:HGNC:6274
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: THIK2; THIK-2; K2p12.1
Summary: This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 1.7), placenta (RPKM 0.4) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p16.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (47509290..47570985, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (47514342..47576038, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (47736429..47798124, complement)

Chromosome 2 - NC_000002.12 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?

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.
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.
The cytoplasmic amino-terminal region of THIK2 (Nt-THIK2) contains an arginine-rich motif (RRSRRR) that acts as a retention/retrieval signal.
Title: Silencing of the tandem pore domain halothane-inhibited K+ channel 2 (THIK2) relies on combined intracellular retention and low intrinsic activity at the plasma membrane.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: A high-density association screen of 155 ion transport genes for involvement with common migraine.
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.

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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

EBI GWAS Catalog

Description
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. 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

RH79726 (e-PCR)
- UniSTS:87102

RH103535 (e-PCR)
- UniSTS:97860

D2S2495 (e-PCR)
- UniSTS:32098

AB060260 (e-PCR)
- UniSTS:480165

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 ion leak channel activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in stabilization of membrane potential	IBA Inferred from Biological aspect of Ancestor 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

General protein information

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Preferred Names: potassium channel subfamily K member 12

Names: potassium channel, subfamily K, member 12; potassium channel, two pore domain subfamily K, member 12; tandem pore domain halothane-inhibited potassium channel 2; tandem pore domain potassium channel THIK-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.