KCNQ3 Chromosome 8
Potassium voltage-gated channel subfamily Q member 3
Upload your DNA to see your personal genotypes for variants in KCNQ3.
What This Gene Does
This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
Gene Info
Gene Group
Potassium voltage-gated channels
Locus Type
gene with protein product
Location
8q24.22
Ensembl
ENSG00000184156
Associated Conditions (23)
Benign neonatal seizures
Seizures
benign familial neonatal
2
Inborn genetic diseases
Seizure
Intellectual disability
Early Infantile Epileptic Encephalopathy
Autosomal Dominant
Autosomal Recessive
KCNQ3-associated disorder
KCNQ3-related disorder
Cervical cancer
Self-limited epilepsy with centrotemporal spikes
Severe neurodevelopmental delay
benign familial infantile
5
Lennox-Gastaut syndrome
KCNQ3-related developmental disability
Severe intellectual disability
+3 more conditions
Key Variants
RS1060500605
Conflicting classifications of pathogenicity
Benign neonatal seizures, Seizures, benign familial neonatal
Health Risk
RS112314858
Conflicting classifications of pathogenicity
Benign neonatal seizures, Inborn genetic diseases, Benign neonatal seizures
Health Risk
RS118192252
Conflicting classifications of pathogenicity
Seizures, benign familial neonatal, 2
Health Risk
RS118192254
Conflicting classifications of pathogenicity
Benign neonatal seizures, Seizures, benign familial neonatal
Health Risk
RS1195159317
Conflicting classifications of pathogenicity
Benign neonatal seizures, Seizures, benign familial neonatal
Health Risk
RS1206001509
Conflicting classifications of pathogenicity
Seizures, benign familial neonatal, 2
Health Risk
RS1253481641
Conflicting classifications of pathogenicity
Benign neonatal seizures, Benign neonatal seizures
Health Risk
RS1288709591
Conflicting classifications of pathogenicity
Seizures, benign familial neonatal, 2
Health Risk
RS1289108911
Conflicting classifications of pathogenicity
Benign neonatal seizures, Benign neonatal seizures
Health Risk
RS1326172406
Conflicting classifications of pathogenicity
Benign neonatal seizures, Seizures, benign familial neonatal
Health Risk
RS138852641
Conflicting classifications of pathogenicity
Benign neonatal seizures, Seizures, benign familial neonatal
Health Risk
RS143224896
Conflicting classifications of pathogenicity
Benign neonatal seizures, Benign neonatal seizures
Health Risk
All Variants (118)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554627019 | Health Risk | Pathogenic | Benign neonatal seizures, Benign neonatal seizures |
| RS1563764788 | Health Risk | Pathogenic | Benign neonatal seizures, Benign neonatal seizures |
| RS1563767053 | Health Risk | Pathogenic | Benign neonatal seizures, Benign neonatal seizures |
| RS1826288852 | Health Risk | Pathogenic | Benign neonatal seizures, Benign neonatal seizures |
| RS2130944386 | Health Risk | Pathogenic | Benign neonatal seizures, Benign neonatal seizures |
| RS2536875506 | Health Risk | Pathogenic | Benign neonatal seizures, Benign neonatal seizures |
| RS2536943945 | Health Risk | Pathogenic | Benign neonatal seizures, Benign neonatal seizures |
| RS2536952593 | Health Risk | Pathogenic | Benign neonatal seizures, Benign neonatal seizures |
| RS2537398144 | Health Risk | Pathogenic | Benign neonatal seizures, Benign neonatal seizures |
| RS762289015 | Health Risk | Pathogenic | Intellectual disability, Seizure, Benign neonatal seizures |
| RS777833596 | Health Risk | Pathogenic | Seizure, Seizure |
| RS796052676 | Health Risk | Pathogenic | Seizures, benign familial neonatal, 2 |
| RS796052680 | Health Risk | Pathogenic | — |
| RS118192251 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial neonatal, 2 |
| RS1204519015 | Health Risk | Pathogenic/Likely pathogenic | Benign neonatal seizures, Seizures, benign familial neonatal |
| RS1586800133 | Health Risk | Pathogenic/Likely pathogenic | Benign neonatal seizures, Seizures, benign familial neonatal |
| RS749205120 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Seizures, benign familial neonatal |
| RS796052678 | Health Risk | Pathogenic/Likely pathogenic | Benign neonatal seizures, Benign neonatal seizures |