CHRNA4 Chromosome 20
Cholinergic receptor nicotinic alpha 4 subunit
Upload your DNA to see your personal genotypes for variants in CHRNA4.
What This Gene Does
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. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
Cholinergic receptors nicotinic subunits
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000101204
Associated Conditions (10)
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant nocturnal frontal lobe epilepsy 1
Tobacco addiction
susceptibility to
Inborn genetic diseases
CHRNA4-related disorder
Tobacco use disorder
Amyotrophic lateral sclerosis
Frontotemporal dementia
Seizure
Key Variants
RS1043176387
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1, Tobacco addiction
Health Risk
RS1044396
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS1057524765
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS1060503516
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS1064794327
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy 1
Health Risk
RS1064795533
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS111286066
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS111969225
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, CHRNA4-related disorder
Health Risk
RS112515579
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS113794453
Conflicting classifications of pathogenicity
Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS121912243
Conflicting classifications of pathogenicity
Tobacco use disorder, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
Health Risk
RS121912244
Conflicting classifications of pathogenicity
Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy, Tobacco use disorder
Health Risk
All Variants (126)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1043176387 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1, Tobacco addiction |
| RS1044396 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS1057524765 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS1060503516 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS1064794327 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy 1 |
| RS1064795533 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS111286066 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS111969225 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, CHRNA4-related disorder |
| RS112515579 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS113794453 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS121912243 | Health Risk | Conflicting classifications of pathogenicity | Tobacco use disorder, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS121912244 | Health Risk | Conflicting classifications of pathogenicity | Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy, Tobacco use disorder |
| RS121912253 | Health Risk | Conflicting classifications of pathogenicity | Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy, CHRNA4-related disorder |
| RS121912267 | Health Risk | Conflicting classifications of pathogenicity | Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS121912268 | Health Risk | Conflicting classifications of pathogenicity | Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1 |
| RS121912274 | Health Risk | Conflicting classifications of pathogenicity | Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy, Tobacco use disorder |
| RS121912277 | Health Risk | Conflicting classifications of pathogenicity | Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS121912278 | Health Risk | Conflicting classifications of pathogenicity | Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS121912280 | Health Risk | Conflicting classifications of pathogenicity | Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1 |
| RS121912281 | Health Risk | Conflicting classifications of pathogenicity | Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS121912282 | Health Risk | Conflicting classifications of pathogenicity | Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy, Frontotemporal dementia |
| RS121912283 | Health Risk | Conflicting classifications of pathogenicity | Tobacco use disorder, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS1353802225 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS137860047 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS139657121 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Seizure, Inborn genetic diseases |
| RS142137599 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS142646795 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS1428100117 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS143103435 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS144716263 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS146651027 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy 1, Tobacco addiction, susceptibility to |
| RS149407396 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, CHRNA4-related disorder, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS150082508 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS150336658 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1, Inborn genetic diseases |
| RS187372416 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS199699339 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS199852690 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS199949135 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1, Inborn genetic diseases |
| RS200007766 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1, Inborn genetic diseases |
| RS200010568 | Health Risk | Conflicting classifications of pathogenicity | Tobacco addiction, susceptibility to, Autosomal dominant nocturnal frontal lobe epilepsy 1 |
| RS200200279 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS200243948 | Health Risk | Conflicting classifications of pathogenicity | Tobacco addiction, susceptibility to, Autosomal dominant nocturnal frontal lobe epilepsy 1 |
| RS200524076 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CHRNA4-related disorder, Inborn genetic diseases |
| RS200605749 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS200644872 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS200667912 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS200705061 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases |
| RS200750362 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS200810080 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy |
| RS201123897 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy |