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.
View complete mutation data:
Gene Ontology (GO)
| • inward rectifier potassium channel activity (GO:0005242) | • outward rectifier potassium channel activity (GO:0015271) |
| • potassium ion transport (GO:0006813) | • transmembrane transport (GO:0055085) |
| • integral component of membrane (GO:0016021) |
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 Services
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 |
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