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 |
|---|---|---|---|
| RS1555870346 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS1555870470 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS1555870506 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1555870554 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS1555871853 | Health Risk | Pathogenic | — |
| RS1555873656 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1555873683 | Health Risk | Pathogenic | — |
| RS1555873813 | Health Risk | Pathogenic | — |
| RS1555873981 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1568864658 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1568925507 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS1568927747 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS1568932462 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1568932480 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1568986619 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1600732159 | Health Risk | Pathogenic | — |
| RS1600732174 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS1600755440 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1600755607 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Complex neurodevelopmental disorder |
| RS1600766500 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1600785769 | Health Risk | Pathogenic | Seizure, Early-infantile DEE, Early-infantile DEE |
| RS1600786071 | Health Risk | Pathogenic | Epileptic encephalopathy, Early-infantile DEE, Epileptic encephalopathy |
| RS1600886270 | Health Risk | Pathogenic | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS1601542417 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS1601542702 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1601544177 | Health Risk | Pathogenic | — |
| RS1601545088 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1601566621 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS1601572654 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1601573302 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2079949302 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2079959227 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS2079972258 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2079980257 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2080188103 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2080189052 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2080211640 | Health Risk | Pathogenic | — |
| RS2080213813 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2080239750 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2080239833 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2080240053 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2080245264 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2080693649 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2080696874 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2080781132 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS2080902419 | Health Risk | Pathogenic | — |
| RS2080905274 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2081071680 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2081097112 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2081098548 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |