CHRNB4
Cholinergic Receptor Nicotinic Beta 4 Subunit
Gene Information Card
| Symbol | CHRNB4 |
|---|---|
| Full Name | cholinergic receptor nicotinic beta 4 subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 1143 ncbi.nlm.nih.gov/gene/1143 |
| Ensembl ID | ENSG00000167996 |
| UniProt ID | P30926 |
| OMIM ID | 118504 |
| HGNC ID | 1964 |
| Aliases | nAChR beta4, beta4, CHRNB |
Description
The CHRNB4 gene encodes the beta 4 subunit of neuronal nicotinic acetylcholine receptors (nAChRs). These receptors are pentameric ligand-gated ion channels that mediate fast synaptic transmission in the central and peripheral nervous systems. The beta 4 subunit combines with alpha subunits (e.g., alpha3, alpha5) to form functional receptors with distinct pharmacological properties. CHRNB4 is implicated in nicotine dependence, autonomic nervous system function, and various neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nicotine dependence | Altered receptor function due to CHRNB4 variants may affect nicotine binding and reward pathways | Multiple genome-wide association studies (GWAS) and candidate gene studies (NCBI, ClinVar) |
| Autonomic neuropathy | Mutations in CHRNB4 can impair ganglionic nAChR function, leading to autonomic dysfunction | Rare case reports and functional studies (OMIM, PubMed) |
| Epilepsy | CHRNB4 variants may contribute to neuronal hyperexcitability via altered cholinergic signaling | Limited evidence from exome sequencing studies (ClinVar) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 12.5 | Medium |
| Brain - cortex | 8.3 | Low |
| Spinal cord | 6.7 | Low |
| Lung | 2.1 | Not detected |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in nAChR studies |
| HEK293T | 0.8 | Low endogenous expression; often used for heterologous expression |
| IMR-32 (neuroblastoma) | 18.9 | High expression; model for cholinergic neurons |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; likely loss of function |
| c.749C>T (p.Thr250Met) | missense | 0.02% | Alters receptor desensitization kinetics |
| c.1234G>A (p.Gly412Ser) | missense | 0.01% | Reduced surface expression; dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that prevent subunit assembly or reduce channel conductance (e.g., p.Met1?, p.Gly412Ser).
Gain of Function (GOF)
Not well documented for CHRNB4; some variants may increase sensitivity to acetylcholine.
Dominant Negative (DN)
p.Gly412Ser and similar mutations that impair co-assembly with wild-type subunits.
View complete mutation data：
Gene Ontology (GO)
| • acetylcholine-gated monoatomic cation-selective channel activity (GO:0022848) | • plasma membrane (GO:0005886) |
| • synapse (GO:0045202) | • response to nicotine (GO:0035094) |
| • ion transport (GO:0006811) |
Pathways
• Nicotinic acetylcholine receptor signaling pathway (Reactome: R-HSA-629587)
• Neurotransmitter receptor binding and downstream transmission (KEGG: hsa04725)
Protein Summary
The CHRNB4 protein (UniProt P30926) is a 498-amino acid transmembrane subunit of neuronal nicotinic acetylcholine receptors. It contains an extracellular N-terminal domain with a conserved Cys-loop, four transmembrane domains (M1-M4), and a large intracellular loop between M3 and M4. The beta 4 subunit does not contribute to the acetylcholine binding site but influences channel gating, ion selectivity, and pharmacology. It is highly expressed in autonomic ganglia and certain brain regions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRNB4 Knockout HEK293 Cell Line | EDJ-KQ3485 | Human | 1143 | Details Get a Quote |
| CHRNB4 Knockout A-549 Cell Line | EDJ-KQ25267 | Human | 1143 | Details Get a Quote |
| CHRNB4 Knockout HCT 116 Cell Line | EDJ-KQ25268 | Human | 1143 | Details Get a Quote |
| CHRNB4 Knockout HeLa Cell Line | EDJ-KQ52907 | Human | 1143 | Details Get a Quote |
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