Aliases for CHRNA2 Gene
External Ids for CHRNA2 Gene
Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]
GeneCards Summary for CHRNA2 Gene
CHRNA2 (Cholinergic Receptor, Nicotinic, Alpha 2 (Neuronal)) is a Protein Coding gene. Diseases associated with CHRNA2 include chrna2-related nocturnal frontal lobe epilepsy, autosomal dominant and epilepsy, nocturnal frontal lobe, type 4. Among its related pathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine receptor activity. An important paralog of this gene is CHRNA3.
UniProtKB/Swiss-Prot for CHRNA2 Gene
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane