KCNQ5
Potassium Voltage-Gated Channel Subfamily Q Member 5
Gene Information Card
| Symbol | KCNQ5 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily Q Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q13 |
| NCBI Gene ID | 56479 ncbi.nlm.nih.gov/gene/56479 |
| Ensembl ID | ENSG00000185760 |
| UniProt ID | Q9NR82 |
| OMIM ID | 607357 |
| HGNC ID | 6299 |
| Aliases | Kv7.5, KQT5 |
Description
KCNQ5 encodes the Kv7.5 subunit of voltage-gated potassium channels. These channels are critical for neuronal excitability regulation, contributing to the M-current that controls action potential firing. Mutations in KCNQ5 are associated with neurodevelopmental disorders including epilepsy and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 58 | Loss-of-function mutations reduce M-current, increasing neuronal excitability | ClinVar, OMIM #617106 |
| Intellectual disability, autosomal dominant 46 | Heterozygous missense variants impair channel function | OMIM #617106 |
| Benign familial neonatal seizures | Rare KCNQ5 variants implicated in seizure susceptibility | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Skeletal muscle | 8.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuroblastoma line |
| HEK293 | 2.1 | Low endogenous expression |
| U-87 MG | 7.8 | Glioblastoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.928G>A (p.Gly310Ser) | Missense | <0.01% | Loss of function; associated with epileptic encephalopathy |
| c.740C>T (p.Thr247Met) | Missense | <0.01% | Dominant negative effect; intellectual disability |
| c.1123_1125del (p.Phe375del) | In-frame deletion | <0.01% | Reduced current density |
Mutation functional classification
Loss of Function (LOF)
Reduced potassium conductance leading to hyperexcitability; observed in epileptic encephalopathy.
Gain of Function (GOF)
Not reported for KCNQ5.
Dominant Negative (DN)
Mutant subunits impair wild-type channel function; seen in intellectual disability variants.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity (GO:0005249) | • potassium ion transmembrane transport (GO:0071805) |
| • plasma membrane (GO:0005886) | • neuronal action potential (GO:0019228) |
Pathways
• M-current (KCNQ channels) - Reactome R-HSA-1296071
• Voltage gated potassium channels - KEGG hsa04010
Protein Summary
Kv7.5 is a 932-amino acid protein with six transmembrane domains and a pore-forming loop. It assembles as homotetramers or heterotetramers with other KCNQ subunits to form functional M-type potassium channels. The channel is activated by membrane depolarization and modulated by phosphatidylinositol 4,5-bisphosphate (PIP2).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNQ5 Knockout HEK293 Cell Line | EDJ-KQ13156 | Human | 56479 | Details Get a Quote |
| KCNQ5 Knockout A-549 Cell Line | EDJ-KQ43757 | Human | 56479 | Details Get a Quote |
| KCNQ5 Knockout HeLa Cell Line | EDJ-KQ56738 | Human | 56479 | Details Get a Quote |
| KCNQ5 Knockout HCT 116 Cell Line | EDJ-KQ73684 | Human | 56479 | Details Get a Quote |
