CHRNA2 Back

cholinergic receptor, nicotinic, alpha 2 (neuronal)

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NCBI Description of 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.

Community Annotation of CHRNA2 Add / Edit CHRNA2: Annotations

No community annotations yet for CHRNA2.
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

CHRNA2 is highly significantly mutated in
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CHRNA2 is significantly mutated in
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CHRNA2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for CHRNA2