Gene: CHRNA4

Alternate names for this Gene: BFNC|EBN|EBN1|NACHR|NACHRA4|NACRA4

Gene Summary: This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.33

Description of this Gene: cholinergic receptor nicotinic alpha 4 subunit

Type of Gene: protein-coding

rs28931591 in CHRNA4 gene and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy PMID 19237585 2009 Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy.

PMID 22118295 2012 A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy.

PMID 12887446 2003 This is the first report of an occurrence of c.851C>T transition in a white family with ADNFLE.

PMID 10939581 2000 A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

PMID 10563623 1999 A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.

rs121909580 in CHRNA4 gene and Epilepsy, Nocturnal Frontal Lobe, Type 1 PMID 7550350 1995 A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.

PMID 14623738 2003 A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.

PMID 10563623 1999 A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.

rs28931591 in CHRNA4 gene and Seizures PMID 10643924 2000 Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.

PMID 12887446 2003 Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.

PMID 22883468 2013 Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.

PMID 10563623 1999 A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.

PMID 22036597 2012 Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.

PMID 19020039 2008 Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype.

PMID 21753767 2011 Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.

PMID 14623738 2003 A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.

PMID 11904236 2002 Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.

rs2273500 in CHRNA4 gene and Smoking PMID 26440539 2015 Importantly, rs2273500-C was associated with increased lung cancer risk (N=28 998, odds ratio=1.06 and 95% confidence interval=1.00-1.12), likely through its effect on smoking, as rs2273500-C was no longer associated with lung cancer after adjustment for smoking.

PMID 28972577 2018 Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence.