KCNQ2 Chromosome 20
Potassium voltage-gated channel subfamily Q member 2
Upload your DNA to see your personal genotypes for variants in KCNQ2.
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 |
|---|---|---|---|
| RS2145774426 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145774563 | Health Risk | Likely pathogenic | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS2145774625 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2145775614 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145776110 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2145778708 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145779552 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145779680 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2145779858 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2145789008 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145789218 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS2145789722 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2145920846 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145921196 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2516098080 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2516100518 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2516104257 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2516117056 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516168233 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516177016 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2516185027 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2516185345 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516188853 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2516237462 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516310445 | Health Risk | Likely pathogenic | Autosomal dominant epilepsy, Autosomal dominant epilepsy |
| RS2516364470 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516418447 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2516418712 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516419508 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516420994 | Health Risk | Likely pathogenic | Complex neurodevelopmental disorder, Early-infantile DEE, Complex neurodevelopmental disorder |
| RS2516421132 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2516421256 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516446102 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS2516447000 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2516447591 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2516501169 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516501540 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516502770 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516502806 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2516505136 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516510450 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516511380 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516511525 | Health Risk | Likely pathogenic | — |
| RS2516532723 | Health Risk | Likely pathogenic | — |
| RS2516742602 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516743177 | Health Risk | Likely pathogenic | Seizure, Seizure |
| RS2516743666 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS371851085 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS570940951 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS752073942 | Health Risk | Likely pathogenic | — |