CHRNA4 cholinergic receptor nicotinic alpha 4 subunit
Gene ID: 1137, updated on 14-Nov-2024Gene type: protein coding
Also known as: EBN; BFNC; EBN1; NACHR; NACRA4; NACHRA4
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- Go to complete Gene record for CHRNA4
- Go to Variation Viewer for CHRNA4 variants
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. [provided by RefSeq, Feb 2012]
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 | |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 MedGen: C1838049OMIM: 600513GeneReviews: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy | See labs |
| Tobacco addiction, susceptibility to | See labs |
Genomic context
- Location:
- 20q13.33
- Sequence:
- Chromosome: 20; NC_000020.11 (63343223..63361349, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHRNA4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CHRNA4 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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