KCNK13
Potassium Two Pore Domain Channel Subfamily K Member 13
Gene Information Card
| Symbol | KCNK13 |
|---|---|
| Full Name | Potassium Two Pore Domain Channel Subfamily K Member 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 56659 ncbi.nlm.nih.gov/gene/56659 |
| Ensembl ID | ENSG00000100883 |
| UniProt ID | Q9HB14 |
| OMIM ID | 607356 |
| HGNC ID | 6278 |
| Aliases | TASK-1, K2P13.1, TASK-1 potassium channel |
Description
KCNK13 encodes a member of the two-pore-domain potassium channel family, specifically the TASK-1 (TWIK-related acid-sensitive K+ channel) subfamily. The protein forms a homodimeric channel that is sensitive to extracellular pH, with inhibition by acidic pH and activation by alkaline pH. It contributes to background potassium conductance, regulating resting membrane potential and neuronal excitability. The gene is expressed in various tissues, including brain, heart, and pancreas.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported in ClinVar | Not applicable | No pathogenic variants in ClinVar as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Pancreas | 6.1 | Low |
| Kidney | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| HeLa | 5.4 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of function; no clinical significance reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • potassium ion transmembrane transport | • potassium channel activity |
| • voltage-gated potassium channel complex | • response to pH |
Pathways
• Potassium channels
• Ion transport by P-type ATPases
Protein Summary
The KCNK13 protein (UniProt Q9HB14) is a 394-amino acid potassium channel with two pore-forming domains and four transmembrane segments. It forms a homodimer that functions as a background potassium channel, sensitive to extracellular pH. The channel is inhibited by acidic pH and activated by alkaline pH, playing a role in regulating neuronal excitability and cardiac action potential duration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNK13 Knockout HEK293 Cell Line | EDJ-KQ13895 | Human | 56659 | Details Get a Quote |
| KCNK13 Knockout HCT 116 Cell Line | EDJ-KQ43755 | Human | 56659 | Details Get a Quote |
| KCNK13 Knockout HeLa Cell Line | EDJ-KQ56746 | Human | 56659 | Details Get a Quote |
| KCNK13 Knockout A-549 Cell Line | EDJ-KQ65250 | Human | 56659 | Details Get a Quote |
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