CHRNA3 Chromosome 15
Cholinergic receptor nicotinic alpha 3 subunit
Upload your DNA to see your personal genotypes for variants in CHRNA3.
What This Gene Does
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. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Cholinergic receptors nicotinic subunits
Locus Type
gene with protein product
Location
15q25.1
Ensembl
ENSG00000080644
Associated Conditions (5)
CHRNA3-related disorder
Urinary bladder
atony of
SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
Amyotrophic lateral sclerosis
Key Variants
RS538193392
Conflicting classifications of pathogenicity
CHRNA3-related disorder, Urinary bladder, atony of
Health Risk
RS755771457
Conflicting classifications of pathogenicity
Urinary bladder, atony of, SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
Health Risk
RS2053207945
Likely pathogenic
Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
Health Risk
RS2053208751
Likely pathogenic
Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
Health Risk
RS2053501632
Likely pathogenic
Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
Health Risk
RS2053539304
Likely pathogenic
Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
Health Risk
RS2141325372
Likely pathogenic
Urinary bladder, atony of, SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
Health Risk
RS1596073421
Pathogenic
Urinary bladder, atony of, Urinary bladder
Health Risk
RS199547652
Pathogenic
Urinary bladder, atony of, Urinary bladder
Health Risk
RS200551904
Pathogenic
Urinary bladder, atony of, Urinary bladder
Health Risk
RS2542813635
Pathogenic
Urinary bladder, atony of, Urinary bladder
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS538193392 | Health Risk | Conflicting classifications of pathogenicity | CHRNA3-related disorder, Urinary bladder, atony of |
| RS755771457 | Health Risk | Conflicting classifications of pathogenicity | Urinary bladder, atony of, SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 |
| RS2053207945 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis |
| RS2053208751 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis |
| RS2053501632 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis |
| RS2053539304 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis |
| RS2141325372 | Health Risk | Likely pathogenic | Urinary bladder, atony of, SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 |
| RS1596073421 | Health Risk | Pathogenic | Urinary bladder, atony of, Urinary bladder |
| RS199547652 | Health Risk | Pathogenic | Urinary bladder, atony of, Urinary bladder |
| RS200551904 | Health Risk | Pathogenic | Urinary bladder, atony of, Urinary bladder |
| RS2542813635 | Health Risk | Pathogenic | Urinary bladder, atony of, Urinary bladder |