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 |
|---|---|---|---|
| RS539406802 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS543477138 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, KCNQ2-related disorder, Early-infantile DEE |
| RS552807375 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS559610397 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS570139975 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS587780366 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS587780367 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS587780368 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS727503973 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS745508762 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Seizures |
| RS746853951 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS747050726 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748120886 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS748400155 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Continuous spike and waves during slow sleep, Early-infantile DEE |
| RS748785128 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS749554385 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, Inborn genetic diseases, Complex neurodevelopmental disorder |
| RS751334184 | Health Risk | Conflicting classifications of pathogenicity | Complex neurodevelopmental disorder, Inborn genetic diseases, Early-infantile DEE |
| RS752280961 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS752551225 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Seizures |
| RS753696924 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS754250122 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS754682495 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS755013341 | Health Risk | Conflicting classifications of pathogenicity | Complex neurodevelopmental disorder, Early-infantile DEE, Complex neurodevelopmental disorder |
| RS756609768 | Health Risk | Conflicting classifications of pathogenicity | Complex neurodevelopmental disorder, Early-infantile DEE, Complex neurodevelopmental disorder |
| RS758074713 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Inborn genetic diseases, Early-infantile DEE |
| RS759258191 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Complex neurodevelopmental disorder |
| RS762130930 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS762910638 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS763503121 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS764444302 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS765493484 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS768284828 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS769646940 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS770730662 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Inborn genetic diseases |
| RS771845478 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Seizures |
| RS773194884 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS774206764 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS776422347 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS777257591 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS777332271 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS777916008 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS777940990 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS780110473 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS781778855 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS794727134 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS794727741 | Health Risk | Conflicting classifications of pathogenicity | Seizure, Early-infantile DEE, Developmental and epileptic encephalopathy |
| RS794727935 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Seizures |
| RS796052616 | Health Risk | Conflicting classifications of pathogenicity | Complex neurodevelopmental disorder, Early-infantile DEE, Complex neurodevelopmental disorder |
| RS796052625 | Health Risk | Conflicting classifications of pathogenicity | Complex neurodevelopmental disorder, Inborn genetic diseases, Early-infantile DEE |
| RS796052630 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |