KCNQ2 Chromosome 20
Potassium voltage-gated channel subfamily Q member 2
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What This Gene Does
The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Potassium voltage-gated channels
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000075043
Associated Conditions (35)
Seizures
benign familial neonatal
1
Developmental and epileptic encephalopathy
7
Inborn genetic diseases
Early-infantile DEE
Epileptic encephalopathy
Complex neurodevelopmental disorder
Paroxysmal central nervous system disorders
KCNQ2-related disorder
Seizure
See cases
Neonatal encephalopathy
Continuous spike and waves during slow sleep
Intellectual disability
Epilepsy
benign neonatal
and/or myokymia
Autosomal dominant epilepsy
+15 more conditions
Key Variants
RS1057516092
Conflicting classifications of pathogenicity
Seizures, benign familial neonatal, 1
Health Risk
RS1057518492
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1057519535
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Inborn genetic diseases, Developmental and epileptic encephalopathy
Health Risk
RS1057523550
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1064793334
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
Health Risk
RS117067974
Conflicting classifications of pathogenicity
Seizures, benign familial neonatal, 1
Health Risk
RS1178354607
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS118192219
Conflicting classifications of pathogenicity
Seizures, benign familial neonatal, 1
Health Risk
RS118192232
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS118192235
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Seizures, benign familial neonatal
Health Risk
RS12481082
Conflicting classifications of pathogenicity
Seizures, benign familial neonatal, 1
Health Risk
RS1264858438
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
All Variants (658)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2145778948 | Health Risk | Pathogenic | KCNQ2-related disorder, KCNQ2-related disorder |
| RS2145779218 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145779397 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2145779418 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145789182 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145789339 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145789820 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145921283 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145921332 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145921462 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145921606 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2145921876 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145922320 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2516089906 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516094689 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516095055 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516095389 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516095868 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2516096143 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2516097737 | Health Risk | Pathogenic | KCNQ2-related disorder, KCNQ2-related disorder |
| RS2516098402 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516099742 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516100536 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516102200 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516102657 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516102768 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS2516102833 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516104486 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS2516105014 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516105418 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516117275 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516117508 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516119319 | Health Risk | Pathogenic | — |
| RS2516119519 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516167210 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516167273 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516167961 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516175807 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516176081 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516177430 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516177505 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516187432 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS2516187638 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516362777 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516364122 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516364365 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516364432 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516364667 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516364978 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS2516365119 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |