KCNK17

Potassium Two Pore Domain Channel Subfamily K Member 17

Gene Information Card

Symbol KCNK17
Full Name Potassium Two Pore Domain Channel Subfamily K Member 17
Gene Type protein-coding
Chromosomal Location 6p21.2
NCBI Gene ID 89822 ncbi.nlm.nih.gov/gene/89822
Ensembl ID ENSG00000124780
UniProt ID Q96T54
OMIM ID 607367
HGNC ID 62782
Aliases TASK-4, TALK-2, K2P17.1

Description

KCNK17 encodes a member of the two-pore domain (K2P) potassium channel family, specifically the TASK-4 (TWIK-related acid-sensitive K+ channel 4) or TALK-2 (TWIK-related alkaline-sensitive K+ channel 2) subunit. This channel is characterized by four transmembrane segments and two pore-forming domains, functioning as a background or leak potassium channel. It is sensitive to extracellular pH, being activated by alkaline conditions and inhibited by acidic pH. KCNK17 contributes to the regulation of resting membrane potential and cellular excitability in various tissues, including the heart, pancreas, and kidney.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Hypertension Altered potassium channel activity may affect vascular tone and blood pressure regulation; association studies suggest linkage to blood pressure traits. PMID: 19020323; ClinVar
Atrial Fibrillation Dysregulation of KCNK17 expression or function may contribute to altered cardiac repolarization and arrhythmia susceptibility. PMID: 22965924; ClinVar
Pancreatic Cancer Overexpression of KCNK17 has been observed in pancreatic ductal adenocarcinoma; may promote cell proliferation and migration. COSMIC; PMID: 25944712

Expression Profile

Tissue Expression
Tissue nTPM level
Heart 12.3 Medium
Pancreas 8.7 Medium
Kidney 6.5 Low
Lung 4.2 Low
Brain 2.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK 293 15.0 High expression in transfected cells
PANC-1 9.8 Pancreatic cancer cell line
HepG2 3.4 Hepatocellular carcinoma cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.434C>T (p.Pro145Leu) Missense <0.01% (gnomAD) Unknown functional effect; rare variant
c.682G>A (p.Gly228Arg) Missense <0.01% (gnomAD) Unknown functional effect; rare variant
c.1012C>T (p.Arg338Trp) Missense <0.01% (gnomAD) Unknown functional effect; rare variant
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in ClinVar or COSMIC for KCNK17.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No confirmed dominant-negative mutations reported.

Pathways

Potassium Channels (Reactome: R-HSA-1296071)
Cardiac conduction (Reactome: R-HSA-5576891)

Protein Summary

The KCNK17 protein (UniProt Q96T54) is a 374-amino acid potassium channel subunit with four transmembrane helices (TM1-TM4) and two pore domains (P1 and P2). It forms functional homodimeric channels that conduct outward potassium currents. The channel is activated by alkaline extracellular pH (optimum pH ~8.0) and inhibited by acidic pH. It is also modulated by volatile anesthetics and may be involved in cellular volume regulation. Expression is highest in heart, pancreas, and kidney.

Related Products

Product name Cat.No. Species Gene ID
KCNK17 Knockout HEK293 Cell Line EDJ-KQ9794 Human 89822 Details Get a Quote
KCNK17 Knockout HeLa Cell Line EDJ-KQ57740 Human 89822 Details Get a Quote
KCNK17 Knockout A-549 Cell Line EDJ-KQ66236 Human 89822 Details Get a Quote
KCNK17 Knockout HCT 116 Cell Line EDJ-KQ74658 Human 89822 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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