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 |
|---|---|---|---|
| RS2081101244 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2081102604 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Complex neurodevelopmental disorder |
| RS2081187965 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2081190344 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2081190512 | Health Risk | Pathogenic | Intellectual disability, Early-infantile DEE, Intellectual disability |
| RS2081191454 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2081191595 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2081358611 | Health Risk | Pathogenic | KCNQ2-related disorder, Complex neurodevelopmental disorder, KCNQ2-related disorder |
| RS2081358991 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2081359429 | Health Risk | Pathogenic | — |
| RS2081363375 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2081377258 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS2081378550 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2081437856 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2082232988 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 1, Developmental and epileptic encephalopathy |
| RS2082233410 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2082235501 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS2082240394 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145481803 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145482327 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145483403 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145483535 | Health Risk | Pathogenic | — |
| RS2145484269 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145484794 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145486022 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145487908 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145488506 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145542063 | Health Risk | Pathogenic | KCNQ2-related disorder, KCNQ2-related disorder |
| RS2145547234 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145548219 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145555670 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145557228 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145636962 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145637609 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145679099 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145679115 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145680059 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145712063 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145712498 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145718887 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145718961 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2145736248 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145736444 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145736578 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145774598 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145774742 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145774901 | Health Risk | Pathogenic | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS2145775420 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145775795 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, KCNQ2-related disorder |
| RS2145778884 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |