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 |
|---|---|---|---|
| RS756921902 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Seizure |
| RS759584387 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS760984494 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS766608647 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS770290221 | Health Risk | Likely pathogenic | — |
| RS772800738 | Health Risk | Likely pathogenic | — |
| RS780783747 | Health Risk | Likely pathogenic | — |
| RS796052617 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS796052621 | Health Risk | Likely pathogenic | Inborn genetic diseases, Seizures, benign familial neonatal |
| RS796052622 | Health Risk | Likely pathogenic | — |
| RS796052631 | Health Risk | Likely pathogenic | Inborn genetic diseases, KCNQ2-related disorder, Early-infantile DEE |
| RS796052632 | Health Risk | Likely pathogenic | — |
| RS796052633 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS796052635 | Health Risk | Likely pathogenic | — |
| RS796052649 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS796052650 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS796052654 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS796052664 | Health Risk | Likely pathogenic | — |
| RS797045638 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Inborn genetic diseases |
| RS868055567 | Health Risk | Likely pathogenic | — |
| RS942541730 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS1057516079 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS1057516080 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1057516081 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS1057516082 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS1057516085 | Health Risk | Pathogenic | Severe intellectual deficiency, Developmental and epileptic encephalopathy, 7 |
| RS1057516086 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Complex neurodevelopmental disorder |
| RS1057516087 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS1057516091 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1057516095 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Complex neurodevelopmental disorder |
| RS1057516096 | Health Risk | Pathogenic | Inborn genetic diseases, KCNQ2-related disorder, Developmental and epileptic encephalopathy |
| RS1057516099 | Health Risk | Pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 7 |
| RS1057516101 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS1057516104 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1057516115 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1057516121 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1057518555 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1057518662 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS1057518668 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS1057518772 | Health Risk | Pathogenic | Intellectual disability, Developmental and epileptic encephalopathy, 7 |
| RS1057519124 | Health Risk | Pathogenic | — |
| RS1057519536 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1057520773 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1060499544 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS1064793317 | Health Risk | Pathogenic | — |
| RS1064793852 | Health Risk | Pathogenic | — |
| RS1064794001 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1064794063 | Health Risk | Pathogenic | — |
| RS1064795058 | Health Risk | Pathogenic | — |
| RS1064796151 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |