KCNK4
Potassium Two Pore Domain Channel Subfamily K Member 4
Gene Information Card
| Symbol | KCNK4 |
|---|---|
| Full Name | Potassium Two Pore Domain Channel Subfamily K Member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 50801 ncbi.nlm.nih.gov/gene/50801 |
| Ensembl ID | ENSG00000168079 |
| UniProt ID | Q9NYG8 |
| OMIM ID | 605720 |
| HGNC ID | 6278 |
| Aliases | TRAAK, K2p4.1, TASK-5 |
Description
KCNK4 encodes TRAAK (TWIK-related arachidonic acid-stimulated potassium channel), a mechanosensitive two-pore domain potassium channel. It is involved in regulating neuronal excitability, pain perception, and cellular volume. Gain-of-function mutations cause FHEIG syndrome (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability, gingival overgrowth).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| FHEIG syndrome | Gain-of-function mutations increase potassium conductance, leading to neuronal hyperexcitability and developmental abnormalities | ClinVar, OMIM |
| Epilepsy | Altered TRAAK channel activity disrupts neuronal resting membrane potential | ClinVar, PubMed |
| Pain perception | TRAAK mediates mechanosensation; dysregulation linked to pain disorders | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Spinal cord | 8.7 | Low |
| Lung | 4.2 | Low |
| Heart | 2.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.6 | Neuronal model |
| HEK293 | 1.2 | Low endogenous expression |
| U-87 MG | 3.4 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly88Arg | Missense | Rare | Gain-of-function; associated with FHEIG syndrome |
| p.Ala237Val | Missense | Rare | Gain-of-function; reported in epilepsy |
| p.Arg224His | Missense | Rare | Likely gain-of-function; incomplete penetrance |
Mutation functional classification
Loss of Function (LOF)
Not reported in human disease
Gain of Function (GOF)
p.Gly88Arg, p.Ala237Val, p.Arg224His increase channel activity
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
Pathways
• Potassium channels (Reactome: R-HSA-1296071)
• Mechanosensitive ion channels (KEGG: hsa04750)
Protein Summary
TRAAK (KCNK4) is a 393-amino acid protein with four transmembrane segments and two pore domains. It forms homodimers and is activated by mechanical stretch, arachidonic acid, and membrane depolarization. The channel is highly expressed in neurons and contributes to resting membrane potential and action potential repolarization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNK4 Knockout HEK293 Cell Line | EDJ-KQ10808 | Human | 50801 | Details Get a Quote |
| KCNK4 Knockout HeLa Cell Line | EDJ-KQ56184 | Human | 50801 | Details Get a Quote |
| KCNK4 Knockout A-549 Cell Line | EDJ-KQ64674 | Human | 50801 | Details Get a Quote |
| KCNK4 Knockout HCT 116 Cell Line | EDJ-KQ73123 | Human | 50801 | Details Get a Quote |
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