CHRNB3
Cholinergic Receptor Nicotinic Beta 3 Subunit
Gene Information Card
| Symbol | CHRNB3 |
|---|---|
| Full Name | Cholinergic Receptor Nicotinic Beta 3 Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 8p11.21 |
| NCBI Gene ID | 1142 ncbi.nlm.nih.gov/gene/1142 |
| Ensembl ID | ENSG00000147432 |
| UniProt ID | P12389 |
| OMIM ID | 118508 |
| HGNC ID | 1964 |
| Aliases | CHRNB3, beta3, nAChR beta3 |
Description
The CHRNB3 gene encodes the beta 3 subunit of neuronal nicotinic acetylcholine receptors (nAChRs). These receptors are ligand-gated ion channels that mediate fast synaptic transmission in the central and peripheral nervous systems. The beta 3 subunit can assemble with alpha subunits to form functional receptors, influencing neuronal excitability and neurotransmitter release. CHRNB3 is implicated in nicotine dependence and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nicotine Dependence | Genetic variants in CHRNB3 alter receptor function, affecting nicotine binding and reward pathways. | GWAS studies (NCBI, ClinVar) |
| Lung Cancer | CHRNB3 expression changes may influence tumor growth via cholinergic signaling. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Adrenal Gland | 3.1 | Low |
| Lung | 1.8 | Low |
| Testis | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 4.5 | Neuroblastoma cell line |
| HEK293 | 0.2 | Low expression |
| A549 | 1.1 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs13273442 | SNP | 0.15 (global) | Associated with nicotine dependence |
| rs4950 | SNP | 0.20 (global) | Risk allele for smoking behavior |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some SNPs may reduce receptor activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • acetylcholine-gated monoatomic cation-selective channel activity | • plasma membrane |
| • synaptic transmission | • cholinergic |
| • ion transport |
Pathways
• Nicotine addiction
• Neuroactive ligand-receptor interaction
Protein Summary
The CHRNB3 protein is a 458-amino acid subunit of neuronal nicotinic acetylcholine receptors. It contains four transmembrane domains and contributes to the pentameric receptor structure. The beta 3 subunit does not bind acetylcholine but modulates channel properties when co-assembled with alpha subunits. It is primarily expressed in the brain and peripheral ganglia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRNB3 Knockout HEK293 Cell Line | EDJ-KQ3956 | Human | 1142 | Details Get a Quote |
| CHRNB3 Knockout HeLa Cell Line | EDJ-KQ52906 | Human | 1142 | Details Get a Quote |
| CHRNB3 Knockout A-549 Cell Line | EDJ-KQ61373 | Human | 1142 | Details Get a Quote |
| CHRNB3 Knockout HCT 116 Cell Line | EDJ-KQ69869 | Human | 1142 | Details Get a Quote |
