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 |
|---|---|---|---|
| RS118192195 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192205 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192212 | Health Risk | Pathogenic/Likely pathogenic | Seizure, Developmental and epileptic encephalopathy, 7 |
| RS118192218 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192245 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1555850151 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1555869758 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS1555871832 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS1555873985 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1555881741 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, Inborn genetic diseases, Early-infantile DEE |
| RS1555881809 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, KCNQ2-related disorder, Early-infantile DEE |
| RS1568890288 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1568925719 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS1600714727 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1600731888 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1600751236 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS1600789325 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2079962041 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2080187424 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2080191127 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2080906700 | Health Risk | Pathogenic/Likely pathogenic | Seizure, Early-infantile DEE, Seizure |
| RS2081442293 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2145497168 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2145541173 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2145556764 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145637412 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2145735982 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145774465 | Health Risk | Pathogenic/Likely pathogenic | KCNQ2-related disorder, Early-infantile DEE, KCNQ2-related disorder |
| RS2145774638 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2516093868 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2516167608 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516185103 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516418427 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2516418487 | Health Risk | Pathogenic/Likely pathogenic | KCNQ2-related disorder, Early-infantile DEE, KCNQ2-related disorder |
| RS2516419336 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Early-infantile DEE, Neurodevelopmental disorder |
| RS28939684 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS397514581 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS587777219 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, KCNQ2-related disorder |
| RS727503974 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS74315392 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS756360226 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 7 |
| RS773171451 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Absent speech |
| RS794727740 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Seizure |
| RS794727813 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, KCNQ2-related disorder |
| RS796052618 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Intellectual disability |
| RS796052619 | Health Risk | Pathogenic/Likely pathogenic | Complex neurodevelopmental disorder, Early-infantile DEE, Developmental and epileptic encephalopathy |
| RS796052626 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Intellectual disability |
| RS796052636 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, Complex neurodevelopmental disorder, Early-infantile DEE |
| RS796052639 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Early-infantile DEE, Developmental and epileptic encephalopathy |
| RS796052640 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, Early-infantile DEE |