Aliases for KCNQ2 Gene
- Potassium Voltage-Gated Channel Subfamily Q Member 2 2 3 5
- Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 2 2 3
- 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
- Potassium Voltage-Gated Channel Subfamily KQT Member 2 3
- 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 Familial Neonatal, 1. Among its related pathways are L1CAM interactions and Circadian entrainment. Gene Ontology (GO) annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNQ3.
UniProtKB/Swiss-Prot for KCNQ2 Gene
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. Therefore, it is important in the regulation of neuronal excitability. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine (PubMed:9836639, PubMed:11572947, PubMed:14534157, PubMed:12742592, PubMed:17872363). As the native M-channel, the potassium channel composed of KCNQ2 and KCNQ3 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1 (PubMed:10684873).
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.