Gene: CHRNB4

Alternate names for this Gene: -

Gene Summary: This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 15

Location in Chromosome : 15q25.1

Description of this Gene: cholinergic receptor nicotinic beta 4 subunit

Type of Gene: protein-coding

Gene: CHRNA3

Alternate names for this Gene: BAIPRCK|LNCR2|NACHRA3|PAOD2

Gene Summary: This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 15

Location in Chromosome : 15q25.1

Description of this Gene: cholinergic receptor nicotinic alpha 3 subunit

Type of Gene: protein-coding

rs6495309 in CHRNB4;CHRNA3 gene and Adenocarcinoma of lung (disorder) PMID 19836008 2009 A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.

rs6495309 in CHRNB4;CHRNA3 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs6495309 in CHRNB4;CHRNA3 gene and Malignant neoplasm of lung PMID 18978787 2008 Common 5p15.33 and 6p21.33 variants influence lung cancer risk.

PMID 19654303 2009 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.

PMID 22899653 2012 Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.

rs6495309 in CHRNB4;CHRNA3 gene and Smoking Behaviors PMID 20418888 2010 Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.

PMID 20418890 2010 Genome-wide meta-analyses identify multiple loci associated with smoking behavior.

PMID 20418889 2010 Meta-analysis and imputation refines the association of 15q25 with smoking quantity.

rs6495309 in CHRNB4;CHRNA3 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.