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 |
|---|---|---|---|
| RS2516408449 | Health Risk | Pathogenic | Seizure, Early-infantile DEE, Seizure |
| RS2516409196 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516410133 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516420288 | Health Risk | Pathogenic | Complex neurodevelopmental disorder, Early-infantile DEE, Complex neurodevelopmental disorder |
| RS2516447288 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516447397 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516447652 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516447970 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516501836 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS2516502005 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516502104 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516502329 | Health Risk | Pathogenic | — |
| RS2516503480 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516504404 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516504625 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516511491 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516512439 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516512792 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2516533290 | Health Risk | Pathogenic | KCNQ2-related disorder, KCNQ2-related disorder |
| RS2516534141 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516534189 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516534539 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516742945 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516743879 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516744396 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS2516745503 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516746009 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2516747811 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS267606051 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS267607198 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS28939683 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS35450031 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS368130496 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS372800424 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS375363057 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS397514582 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS397515420 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS587780365 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS6089914 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS74315390 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS74315391 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS747376305 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS770187706 | Health Risk | Pathogenic | Inborn genetic diseases, Early-infantile DEE, Developmental and epileptic encephalopathy |
| RS770904422 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS771282785 | Health Risk | Pathogenic | — |
| RS772669887 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS775918190 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS780872303 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS781144303 | Health Risk | Pathogenic | — |
| RS794727739 | Health Risk | Pathogenic | Early-infantile DEE, Seizures, benign familial neonatal |