CHRNA5 cholinergic receptor nicotinic alpha 5 subunit
Gene ID: 1138, updated on 24-Sep-2024Gene type: protein coding
Also known as: LNCR2
- See all available tests in GTR for this gene
- Go to complete Gene record for CHRNA5
- Go to Variation Viewer for CHRNA5 variants
Summary
The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. GeneReviews: Not available | |
| A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. GeneReviews: Not available | |
| A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. GeneReviews: Not available | |
| A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. GeneReviews: Not available | |
| A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. GeneReviews: Not available | |
| Beyond cigarettes-per-day: A genome-wide association study of the biomarker carbon monoxide. GeneReviews: Not available | |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Discovery and fine mapping of serum protein loci through transethnic meta-analysis. GeneReviews: Not available | |
| Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer. GeneReviews: Not available | |
| Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. GeneReviews: Not available | |
| Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns. GeneReviews: Not available | |
| Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. GeneReviews: Not available | |
| Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. GeneReviews: Not available | |
| Genome-wide meta-analyses of smoking behaviors in African Americans. GeneReviews: Not available | |
| IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease. GeneReviews: Not available | |
| Meta-analysis and imputation refines the association of 15q25 with smoking quantity. GeneReviews: Not available | |
| Smoking as a quantitative trait locus 3 | See labs |
| Variants in FAM13A are associated with chronic obstructive pulmonary disease. GeneReviews: Not available |
Genomic context
- Location:
- 15q25.1
- Sequence:
- Chromosome: 15; NC_000015.10 (78565520..78595269)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHRNA5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CHRNA5 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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