CHRNB4 cholinergic receptor nicotinic beta 4 subunit
Gene ID: 1143, updated on 18-Sep-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for CHRNB4
- Go to Variation Viewer for CHRNB4 variants
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. [provided by RefSeq, Sep 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 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 | |
| Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer. GeneReviews: Not available | |
| GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. GeneReviews: Not available |
Genomic context
- Location:
- 15q25.1
- Sequence:
- Chromosome: 15; NC_000015.10 (78624111..78661641, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHRNB4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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