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. [provided by RefSeq, Nov 2009]

Description

Cholinergic receptor nicotinic alpha 2 subunit

Tissue specificity

Group enriched (brain, prostate)

Subcell location

Nucleoplasm, Plasma membrane, Cytokinetic bridge

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

8 (27459756 - 27479883)

Ensembl ID

ENSG00000120903  (ver. 103.38)

Orthologs

Mouse Chrna2: ENSMUSG00000022041

UniProt

Q15822

neXtProt

NX_Q15822

Human splice variants
Mouse splice variants

Protein structure