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 |
|---|---|---|---|
| RS1085307463 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1085307905 | Health Risk | Pathogenic | — |
| RS1131691518 | Health Risk | Pathogenic | Complex neurodevelopmental disorder, Complex neurodevelopmental disorder |
| RS1131691658 | Health Risk | Pathogenic | — |
| RS1131691734 | Health Risk | Pathogenic | — |
| RS1131691936 | Health Risk | Pathogenic | Early-infantile DEE, Developmental and epileptic encephalopathy, 7 |
| RS118192185 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192188 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192197 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 1, Seizures |
| RS118192199 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192200 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192201 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192202 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192203 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS118192204 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192206 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192207 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192208 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192209 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS118192211 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192215 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, KCNQ2-related disorder |
| RS118192222 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192223 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192226 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192228 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192231 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192233 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192236 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192239 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192241 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192242 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192244 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192246 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1185859533 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1339542565 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1371722284 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS143399744 | Health Risk | Pathogenic | KCNQ2-related disorder, Early-infantile DEE, Early-infantile DEE |
| RS1555850403 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1555850512 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1555850590 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1555850842 | Health Risk | Pathogenic | Epileptic encephalopathy, KCNQ2-related disorder, Early-infantile DEE |
| RS1555850868 | Health Risk | Pathogenic | Inborn genetic diseases, KCNQ2-related disorder, Inborn genetic diseases |
| RS1555851513 | Health Risk | Pathogenic | — |
| RS1555851516 | Health Risk | Pathogenic | — |
| RS1555853549 | Health Risk | Pathogenic | — |
| RS1555853971 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS1555853977 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS1555854643 | Health Risk | Pathogenic | — |
| RS1555869700 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS1555869796 | Health Risk | Pathogenic | — |