Cholinergic Receptor, Neuronal Nicotinic, Alpha Polypeptide 2

Alternative Names

  • CHRNA2
  • Acetylcholine Receptor, Neuronal Nicotinic, Alpha-2 Subunit
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OMIM Number

118502

NCBI Gene ID

1135

Uniprot ID

Q15822

Length

19,506 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Neuronal acetylcholine receptor subunit alpha-2

Molecular Mass

59765 Da

Amino Acid Count

529

Genomic Location

chr8:27,459,756-27,479,261

Gene Map Locus
8p21.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000742.4:c.1568C>TSaudi ArabiaNC_000008.11:g.27461651G>ALikely Benign, Uncertain SignificanceUncertain SignificanceEpilepsy, Nocturnal Frontal Lobe, 4NG_015827.1:g.22646C>T; NM_000742.4:c.1568C>T; NP_000733.2:p.Pro523Leu145238683204977
NM_000742.4:c.537C>GSaudi ArabiaNC_000008.11:g.27463906G>CUncertain SignificanceUncertain SignificanceEpilepsy, Nocturnal Frontal Lobe, 4NG_015827.1:g.20391C>G; NM_000742.4:c.537C>G; NP_000733.2:p.Tyr179Ter192887571659083
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