Aliases for KCNQ2 Gene
- Potassium Voltage-Gated Channel Subfamily Q Member 2 2 3
- Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 2 2 3 5
- Neuroblastoma-Specific Potassium Channel Subunit Alpha KvLQT2 3 4
- Voltage-Gated Potassium Channel Subunit Kv7.2 3 4
- Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 2 2
- KQT-Like 2 4
- KCNA11 3
External Ids for KCNQ2 Gene
Previous HGNC Symbols for KCNQ2 Gene
Previous GeneCards Identifiers for KCNQ2 Gene
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]
GeneCards Summary for KCNQ2 Gene
KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2) is a Protein Coding gene. Diseases associated with KCNQ2 include epileptic encephalopathy, early infantile, 7 and seizures, benign neonatal, 1. Among its related pathways are Transmission across Chemical Synapses and Potassium Channels. GO annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNQ4.
UniProtKB/Swiss-Prot for KCNQ2 Gene
Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine. Muscarinic agonist oxotremorine-M strongly suppress KCNQ2/KCNQ3 current in cells in which cloned KCNQ2/KCNQ3 channels were coexpressed with M1 muscarinic receptors.
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.