KCNK17 potassium two pore domain channel subfamily K member 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNK17provided by HGNC
Official Full Name: potassium two pore domain channel subfamily K member 17provided by HGNC
Primary source: HGNC:HGNC:14465
See related: Ensembl:ENSG00000124780 MIM:607370; AllianceGenome:HGNC:14465
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: TALK2; TASK4; TALK-2; TASK-4; K2p17.1
Summary: The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is activated at alkaline pH. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Expression: Broad expression in lung (RPKM 2.2), stomach (RPKM 1.6) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (39299001..39314419, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (39123565..39138961, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (39266777..39282195, complement)

Chromosome 6 - NC_000006.12 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?

2 novel gene variants in REM2 and KCNK17 that provide a physiologically plausible explanation for variable expressivity in a large subset of patients in a multigenerational long QT syndrome type 2 family
Title: Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.
The results suggested that heterodimerization of TASK1 and TALK2 provides cells with the ability to make multiple responses to a variety of physiological and pharmacological stimuli.
Title: Heterodimerization of two pore domain K+ channel TASK1 and TALK2 in living heterologous expression systems.
The T carrier of an single-nucleotide polymorphism is associated with reduced risk of cerebral hemorrhage in the Chinese population.
Title: Association of variants in KCNK17 gene with ischemic stroke and cerebral hemorrhage in a Chinese population.
This study demonstrates that Gly88 is a crucial residue for normal TASK-4 gating behavior and that the channel is strongly expressed in the cardiac conduction system.
Title: Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
The rs10947803 SNP (A allele) in KCNK17 increases the risk of cerebral hemorrhage but not ischemic stroke in the Chinese population.
Title: The rs10947803 SNP of KCNK17 is associated with cerebral hemorrhage but not ischemic stroke in a Chinese population.
The A allele of the rs10947803 variant of KCNK17 was associated with increased risk of IS and increased levels of KCNK17 gene expression.
Title: KCNK17 genetic variants in ischemic stroke.
Observational study of gene-disease association. (HuGE Navigator)
Title: Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke.

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
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. 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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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
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transport	IDA Inferred from Direct Assay more info	PubMed
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
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: potassium channel subfamily K member 17

Names: 2P domain potassium channel Talk-2; TWIK-related acid-sensitive K(+) channel 4; TWIK-related acid-sensitive K+ 4; TWIK-related alkaline pH-activated K(+) channel 2; acid-sensitive potassium channel protein TASK-4; potassium channel, two pore domain subfamily K, member 17

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_047208.1 RefSeqGene

Range

5043..20461

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135111.2 → NP_001128583.1 potassium channel subfamily K member 17 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional exon at the 3' end compared to transcript variant 1. This results in a frame-shift and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AL136087, BC025726

Consensus CDS

CCDS47419.1

UniProtKB/Swiss-Prot

Q96T54

Related

ENSP00000401271.2, ENST00000453413.2

Conserved Domains (1) summary

pfam07885
Location:96 → 157

Ion_trans_2; Ion channel
NM_031460.4 → NP_113648.2 potassium channel subfamily K member 17 isoform 1

See identical proteins and their annotated locations for NP_113648.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AF358910, BC025726, BP317866

Consensus CDS

CCDS4842.1

UniProtKB/Swiss-Prot

E9PB46, Q5TCF4, Q8TAW4, Q96T54, Q9BXD1, Q9H592

UniProtKB/TrEMBL

B2RCT9

Related

ENSP00000362328.4, ENST00000373231.9

Conserved Domains (1) summary

pfam07885
Location:96 → 157

Ion_trans_2; Ion channel