KCNK3
Potassium Two Pore Domain Channel Subfamily K Member 3
Gene Information Card
| Symbol | KCNK3 |
|---|---|
| Full Name | Potassium Two Pore Domain Channel Subfamily K Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 3777 ncbi.nlm.nih.gov/gene/3777 |
| Ensembl ID | ENSG00000171303 |
| UniProt ID | O14649 |
| OMIM ID | 603220 |
| HGNC ID | 6278 |
| Aliases | TASK-1, TASK, K2P3.1 |
Description
KCNK3 encodes TASK-1, a member of the two-pore-domain potassium channel family. TASK-1 channels conduct background potassium currents, regulating resting membrane potential and neuronal excitability. The gene is expressed in the heart, brain, and pulmonary artery smooth muscle. Loss-of-function mutations in KCNK3 are associated with pulmonary arterial hypertension (PAH).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary Arterial Hypertension (PAH) | Loss-of-function mutations reduce potassium current, leading to pulmonary vasoconstriction and vascular remodeling | ClinVar, OMIM |
| Atrial Fibrillation | Altered TASK-1 expression may contribute to electrical remodeling | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Skeletal Muscle | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in transfected cells |
| H9c2 (rat cardiomyocytes) | 10.2 | Endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.608G>A (p.Arg203His) | Missense | Rare (found in PAH families) | Loss of function; reduced current amplitude |
| c.611G>A (p.Arg204Gln) | Missense | Rare | Loss of function; impaired channel trafficking |
Mutation functional classification
Loss of Function (LOF)
Most PAH-associated mutations reduce or abolish potassium current.
Gain of Function (GOF)
Not reported for KCNK3.
Dominant Negative (DN)
Some mutations may exert dominant-negative effects on wild-type channels.
View complete mutation data：
Gene Ontology (GO)
| • potassium ion transmembrane transport | • voltage-gated potassium channel activity |
| • cellular response to hypoxia | • regulation of membrane potential |
Pathways
• Potassium channels
• Ion transport by P-type ATPases
Protein Summary
TASK-1 is a 394-amino acid protein with four transmembrane segments and two pore domains. It forms homodimers or heterodimers with other K2P channels. The channel is sensitive to extracellular pH, volatile anesthetics, and G-protein-coupled receptor signaling. It plays a key role in setting the resting membrane potential in excitable cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNK3 Knockout HEK293 Cell Line | EDJ-KQ5060 | Human | 3777 | Details Get a Quote |
| KCNK3 Knockout HeLa Cell Line | EDJ-KQ27972 | Human | 3777 | Details Get a Quote |
| KCNK3 Knockout A-549 Cell Line | EDJ-KQ26752 | Human | 3777 | Details Get a Quote |
| KCNK3 Knockout HCT 116 Cell Line | EDJ-KQ70685 | Human | 3777 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
