KCNQ2 Potassium Voltage-Gated Channel Subunit
Key regulator of neuronal M-current, associated with epilepsy and developmental disorders
Gene Information Card
| Symbol | KCNQ2 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily Q Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 3785 ncbi.nlm.nih.gov/gene/3785 |
| Ensembl ID | ENSG00000075043 |
| UniProt ID | O43526 |
| OMIM ID | 602235 |
| HGNC ID | 6296 |
| Aliases | BFNC, EBN, EBN1, KCNA11, KQT2, HNSPC |
Description
KCNQ2 encodes a voltage-gated potassium channel subunit that co-assembles with KCNQ3 to form the M-channel, a key regulator of neuronal excitability. Mutations in KCNQ2 cause benign familial neonatal seizures (BFNS) and KCNQ2 encephalopathy, a severe early-onset epileptic disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Benign Familial Neonatal Seizures (BFNS) | Loss-of-function mutations reduce M-current, increasing neuronal excitability | ClinVar, OMIM |
| KCNQ2 Encephalopathy | Dominant-negative or gain-of-function mutations disrupt channel function, leading to severe epilepsy and developmental delay | ClinVar, OMIM |
| Epileptic Encephalopathy, Early Infantile, 7 | De novo missense mutations alter channel gating or trafficking | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | High |
| Cerebral cortex | 15.1 | High |
| Hippocampus | 14.8 | High |
| Cerebellum | 10.2 | Medium |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| HEK293 (embryonic kidney) | 0.3 | Low endogenous expression |
| U-87 MG (glioblastoma) | 5.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.740C>T (p.Thr247Met) | Missense | Rare | Reduced potassium current; associated with BFNS |
| c.853G>A (p.Gly285Ser) | Missense | De novo | Dominant-negative effect; severe encephalopathy |
| c.1192C>T (p.Arg398Trp) | Missense | De novo | Gain-of-function; early-onset epilepsy |
Mutation functional classification
Loss of Function (LOF)
Common in BFNS; reduced M-current leads to hyperexcitability
Gain of Function (GOF)
Observed in some encephalopathy cases; altered channel kinetics
Dominant Negative (DN)
Frequent in severe KCNQ2 encephalopathy; mutant subunits impair wild-type channel function
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • delayed rectifier potassium channel activity |
| • neuronal action potential | • membrane depolarization |
| • ion transport |
Pathways
• M-current (KCNQ2/KCNQ3) pathway
• Voltage-gated potassium channels
• Neuronal system
Protein Summary
The KCNQ2 protein is a 872-amino acid subunit with six transmembrane domains, forming homotetrameric or heterotetrameric (with KCNQ3) potassium channels. It mediates the slow-activating, non-inactivating M-current that dampens repetitive neuronal firing. Mutations disrupt channel function, leading to epilepsy syndromes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNQ2 Knockout HEK293 Cell Line | EDJ-KQ5050 | Human | 3785 | Details Get a Quote |
| KCNQ2 Knockout HCT 116 Cell Line | EDJ-KQ27953 | Human | 3785 | Details Get a Quote |
| KCNQ2 Knockout HeLa Cell Line | EDJ-KQ53726 | Human | 3785 | Details Get a Quote |
| KCNQ2 Knockout A-549 Cell Line | EDJ-KQ62203 | Human | 3785 | Details Get a Quote |
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