CHRNA2
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.
Full Name
cholinergic receptor nicotinic alpha 2 subunit
Function
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.
Biological Process
Chemical synaptic transmission Source: GO_Central
Ion transmembrane transport Source: GO_Central
Ion transport Source: UniProtKB
Nervous system process Source: GO_Central
Regulation of membrane potential Source: GO_Central
Response to nicotine Source: GO_Central
Signal transduction Source: UniProtKB
Synaptic transmission, cholinergic Source: GO_Central
Cellular Location
Postsynaptic cell membrane; Cell membrane
Involvement in disease
Epilepsy, nocturnal frontal lobe, 4 (ENFL4): An autosomal dominant focal epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking.
Seizures, benign familial infantile, 6 (BFIS6): A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS6 inheritance is autosomal dominant.
Topology
Extracellular: 27-264
Helical: 265-289
Helical: 297-315
Helical: 331-352
Cytoplasmic: 353-502
Helical: 503-521
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Datasheet