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 |
|---|---|---|---|
| RS1057516092 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS1057518492 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1057519535 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Inborn genetic diseases, Developmental and epileptic encephalopathy |
| RS1057523550 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1064793334 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS117067974 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS1178354607 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS118192219 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS118192232 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS118192235 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Seizures, benign familial neonatal |
| RS12481082 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS1264858438 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1292482268 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1349536017 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1360809225 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS1381622639 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS1397227137 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS1447421194 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1459803620 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS148654588 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, KCNQ2-related disorder, Early-infantile DEE |
| RS1555853970 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS1555869803 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1555873790 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Seizure, Early-infantile DEE |
| RS1555874020 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1568916986 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1568941635 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1568944870 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1600786349 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS1801545 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS200872349 | Health Risk | Conflicting classifications of pathogenicity | See cases, Early-infantile DEE, See cases |
| RS2080900462 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2081071796 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2081192615 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS2081363570 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2082233689 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, KCNQ2-related disorder, Early-infantile DEE |
| RS2145541064 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS2145542277 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS2145712541 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS2145735332 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2145774681 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS2516092158 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS2516419848 | Health Risk | Conflicting classifications of pathogenicity | KCNQ2-related disorder, Early-infantile DEE, KCNQ2-related disorder |
| RS2516504736 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalopathy, Early-infantile DEE, Neonatal encephalopathy |
| RS2516743033 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS368720575 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS369438374 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS371784719 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS374877247 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS375264483 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS532111320 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |