KCNK5
Potassium Two Pore Domain Channel Subfamily K Member 5
Gene Information Card
| Symbol | KCNK5 |
|---|---|
| Full Name | Potassium Two Pore Domain Channel Subfamily K Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.2 |
| NCBI Gene ID | 8645 ncbi.nlm.nih.gov/gene/8645 |
| Ensembl ID | ENSG00000164626 |
| UniProt ID | O95279 |
| OMIM ID | 603493 |
| HGNC ID | 6278 |
| Aliases | TASK-2, K2p5.1, TASK2 |
Description
KCNK5 encodes the TASK-2 (TWIK-related acid-sensitive K+ channel 2) protein, a member of the two-pore domain potassium channel family. TASK-2 is a pH-sensitive, outwardly rectifying potassium channel that is activated by extracellular alkalosis and inhibited by extracellular acidosis. It plays a role in maintaining resting membrane potential, regulating cell volume, and modulating neuronal excitability. The channel is expressed in various tissues including kidney, lung, pancreas, and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary hyperaldosteronism | Gain-of-function mutations in KCNK5 increase potassium efflux, leading to aldosterone overproduction | ClinVar, OMIM |
| Hypertension | Altered TASK-2 activity affects renal potassium handling and blood pressure regulation | NCBI Gene, OMIM |
| Seizures | Dysregulation of TASK-2 in neurons may contribute to hyperexcitability | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Pancreas | 6.7 | Low |
| Brain | 5.1 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in recombinant systems |
| A549 | 7.8 | Lung carcinoma cell line |
| HepG2 | 4.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | Rare | Gain-of-function; associated with primary hyperaldosteronism |
| c.200T>C (p.Leu67Pro) | Missense | Rare | Loss-of-function; reduced channel activity |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Leu67Pro reduce potassium conductance, impairing cellular repolarization.
Gain of Function (GOF)
Mutations such as p.Gly34Arg increase channel activity, leading to hyperpolarization and aldosterone secretion.
Dominant Negative (DN)
No dominant-negative mutations have been reported for KCNK5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Potassium channels (Reactome: R-HSA-1296071)
• Transmembrane transport of small molecules (Reactome: R-HSA-382551)
Protein Summary
The TASK-2 protein (UniProt O95279) is a 499-amino acid potassium channel with two pore domains and four transmembrane segments. It forms homodimers and is sensitive to extracellular pH, being activated by alkaline pH and inhibited by acidic pH. TASK-2 is involved in renal potassium secretion, cell volume regulation, and neuronal excitability. Its activity is modulated by G-protein coupled receptors and volatile anesthetics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNK5 Knockout HEK293 Cell Line | EDJ-KQ6313 | Human | 8645 | Details Get a Quote |
| KCNK5 Knockout A-549 Cell Line | EDJ-KQ30232 | Human | 8645 | Details Get a Quote |
| KCNK5 Knockout HCT 116 Cell Line | EDJ-KQ30233 | Human | 8645 | Details Get a Quote |
| KCNK5 Knockout HeLa Cell Line | EDJ-KQ30234 | Human | 8645 | Details Get a Quote |
