CHRNB2
Cholinergic Receptor Nicotinic Beta 2 Subunit
Gene Information Card
| Symbol | CHRNB2 |
|---|---|
| Full Name | Cholinergic Receptor Nicotinic Beta 2 Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 1141 ncbi.nlm.nih.gov/gene/1141 |
| Ensembl ID | ENSG00000160716 |
| UniProt ID | P17787 |
| OMIM ID | 118507 |
| HGNC ID | 1963 |
| Aliases | nAChRB2, CHRNB2, beta2, neuronal acetylcholine receptor subunit beta-2 |
Description
The CHRNB2 gene encodes the beta-2 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-2 subunit is essential for receptor assembly and function, particularly in the brain. Mutations in CHRNB2 are associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) | Gain-of-function mutations in CHRNB2 increase receptor sensitivity to acetylcholine, leading to hyperexcitability in frontal lobe circuits. | ClinVar, OMIM |
| Epilepsy, nocturnal frontal lobe, type 3 (ENFL3) | Missense mutations (e.g., V287L, V287M) alter channel gating and calcium permeability. | OMIM #605375 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Adrenal gland | 4.2 | Medium |
| Lung | 0.8 | Low |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.1 | High expression |
| U-87 MG (glioblastoma) | 6.8 | Medium expression |
| HEK 293 (embryonic kidney) | 0.2 | Low/not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.859G>A (p.V287M) | Missense | Rare | Gain-of-function; increased ACh sensitivity; ADNFLE |
| c.860T>C (p.V287L) | Missense | Rare | Gain-of-function; altered channel kinetics; ADNFLE |
| c.851C>T (p.S284L) | Missense | Rare | Gain-of-function; reduced desensitization; ADNFLE |
Mutation functional classification
Loss of Function (LOF)
Not reported for CHRNB2 in disease context.
Gain of Function (GOF)
Common mechanism for ADNFLE mutations (e.g., V287M, V287L, S284L) leading to increased receptor activity.
Dominant Negative (DN)
Not reported for CHRNB2.
View complete mutation data：
Gene Ontology (GO)
| • acetylcholine-gated monoatomic cation-selective channel activity (GO:0022848) | • acetylcholine receptor activity (GO:0015464) |
| • ion channel activity (GO:0005216) | • plasma membrane (GO:0005886) |
| • synapse (GO:0045202) | • neuronal cell body (GO:0043025) |
Pathways
• Nicotinic acetylcholine receptor signaling pathway (Reactome: R-HSA-629587)
• Neurotransmitter receptor binding and downstream transmission (KEGG: hsa04725)
Protein Summary
The CHRNB2 protein (UniProt P17787) is a 502-amino acid transmembrane subunit of neuronal nicotinic acetylcholine receptors. It contains an N-terminal extracellular domain, four transmembrane domains (M1-M4), and a large intracellular loop. The beta-2 subunit co-assembles with alpha subunits (e.g., alpha4) to form functional heteropentameric channels. These receptors mediate fast excitatory neurotransmission and modulate neurotransmitter release. Mutations in the transmembrane domain (e.g., V287) alter channel gating and are linked to epilepsy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRNB2 Knockout HEK293 Cell Line | EDJ-KQ4278 | Human | 1141 | Details Get a Quote |
| CHRNB2 Knockout HeLa Cell Line | EDJ-KQ52905 | Human | 1141 | Details Get a Quote |
| CHRNB2 Knockout A-549 Cell Line | EDJ-KQ61372 | Human | 1141 | Details Get a Quote |
| CHRNB2 Knockout HCT 116 Cell Line | EDJ-KQ69868 | Human | 1141 | Details Get a Quote |
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