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 |
|---|---|---|---|
| RS794729197 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS796052613 | Health Risk | Pathogenic | — |
| RS796052614 | Health Risk | Pathogenic | — |
| RS796052615 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS796052620 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Inborn genetic diseases |
| RS796052623 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS796052624 | Health Risk | Pathogenic | — |
| RS796052627 | Health Risk | Pathogenic | — |
| RS796052629 | Health Risk | Pathogenic | — |
| RS796052634 | Health Risk | Pathogenic | — |
| RS796052637 | Health Risk | Pathogenic | — |
| RS796052642 | Health Risk | Pathogenic | — |
| RS796052643 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS796052644 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS796052645 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS796052652 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS796052653 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS796052655 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS796052657 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 1, Early-infantile DEE |
| RS796052663 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS796052665 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS796052666 | Health Risk | Pathogenic | — |
| RS796052667 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS796052668 | Health Risk | Pathogenic | — |
| RS797044935 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS864321706 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Complex neurodevelopmental disorder |
| RS864321708 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS864321709 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS864321710 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Complex neurodevelopmental disorder |
| RS864321711 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS864321712 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS866273848 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 1 |
| RS867848081 | Health Risk | Pathogenic | Seizure, Early-infantile DEE, Seizure |
| RS878855236 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS886039485 | Health Risk | Pathogenic | — |
| RS886041608 | Health Risk | Pathogenic | — |
| RS886041890 | Health Risk | Pathogenic | — |
| RS886042010 | Health Risk | Pathogenic | — |
| RS886042605 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS892572733 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS1057516090 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS1057516094 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 7 |
| RS1057516098 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS1057518500 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Seizure |
| RS1057523728 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Complex neurodevelopmental disorder |
| RS1060500602 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Complex neurodevelopmental disorder |
| RS1064795489 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS1064797284 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS118192186 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192194 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 1 |