Gene: CHRNA2

Alternate names for this Gene: -

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8p21.2

Description of this Gene: cholinergic receptor nicotinic alpha 2 subunit

Type of Gene: protein-coding

rs2741342 in CHRNA2 gene and Alzheimer's Disease PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

PMID 30617256 2019 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

rs11778371 in CHRNA2 gene and Asthma PMID 20698975 2010 Asthma-susceptibility variants identified using probands in case-control and family-based analyses.

PMID 19426955 2009 Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene.

rs1018084204 in CHRNA2 gene and Epilepsy, Nocturnal Frontal Lobe, Type 4 PMID 25847220 2015 Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.

PMID 16826524 2006 Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.

rs2565065 in CHRNA2 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.