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
- Potassium Voltage-Gated Channel Subfamily KQT Member 2 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
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 Interaction between L1 and Ankyrins and Dopamine-DARPP32 Feedback onto cAMP Pathway. Gene Ontology (GO) annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNQ5.
UniProtKB/Swiss-Prot Summary 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.