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Description

Neuronal acetylcholine receptor subunit alpha-2 (UniProt: Q15822, also known as Cholinergic Receptor Nicotinic Alpha 2 Subunit, Acetylcholine Nicotinic Receptor Alpha 2) is encoded by the CHRNA2 gene (Gene ID: 1135) in human. 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. In neuronal AChR alpha-2 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors. 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. Cholinergic Receptor Nicotinic Alpha 2 Subunit is a multi-pass membrane protein that is produced with a signal peptide (aa 1-26), which is subsequently cleaved off. It has an extracellular domain (aa 27-264), a cytoplasmic domain (aa 353-502), and four helical transmembrane domains (aa 265-289, 297-315, 331-352, 503-521). Mutations in CHRNA2 gene are known to cause epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering.