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 |
|---|---|---|---|
| RS1555860693 | Health Risk | Likely pathogenic | — |
| RS1555871862 | Health Risk | Likely pathogenic | — |
| RS1555871915 | Health Risk | Likely pathogenic | KCNQ2-related disorder, KCNQ2-related disorder |
| RS1555873665 | Health Risk | Likely pathogenic | Complex neurodevelopmental disorder, Early-infantile DEE, Complex neurodevelopmental disorder |
| RS1555873823 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1555873939 | Health Risk | Likely pathogenic | — |
| RS1555873982 | Health Risk | Likely pathogenic | Neonatal encephalopathy, Neonatal encephalopathy |
| RS1555874555 | Health Risk | Likely pathogenic | — |
| RS1568899375 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1568925523 | Health Risk | Likely pathogenic | — |
| RS1568927820 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1568940442 | Health Risk | Likely pathogenic | Inborn genetic diseases, Early-infantile DEE, Developmental and epileptic encephalopathy |
| RS1600755429 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1600767259 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1601548832 | Health Risk | Likely pathogenic | — |
| RS1601548976 | Health Risk | Likely pathogenic | — |
| RS200395340 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS2080210194 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2080904141 | Health Risk | Likely pathogenic | — |
| RS2080906453 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 1, 7 |
| RS2080907267 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2081099858 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2081186625 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS2081187047 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2081187692 | Health Risk | Likely pathogenic | Early-infantile DEE, Developmental and epileptic encephalopathy, 7 |
| RS2081188385 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 1, Developmental and epileptic encephalopathy |
| RS2081189736 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2081358317 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2081362775 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS2081363302 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2081377457 | Health Risk | Likely pathogenic | — |
| RS2081378361 | Health Risk | Likely pathogenic | — |
| RS2081442073 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145547209 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS2145547478 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145547497 | Health Risk | Likely pathogenic | Seizure, Seizure |
| RS2145556956 | Health Risk | Likely pathogenic | — |
| RS2145637592 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS2145680143 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145680256 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS2145712091 | Health Risk | Likely pathogenic | — |
| RS2145712459 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145712576 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2145712758 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2145719551 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS2145719697 | Health Risk | Likely pathogenic | — |
| RS2145719797 | Health Risk | Likely pathogenic | — |
| RS2145719805 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2145736778 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2145736858 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |