KCNQ2 Back

potassium voltage-gated channel, KQT-like subfamily, member 2

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of KCNQ2
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.

Community Annotation of KCNQ2 Add / Edit KCNQ2: Annotations

No community annotations yet for KCNQ2.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

KCNQ2 is highly significantly mutated in
(none)
KCNQ2 is significantly mutated in
(none)
KCNQ2 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for KCNQ2