CHRM5: Cholinergic Receptor Muscarinic 5
A key G protein-coupled receptor in cholinergic signaling, implicated in neurological and psychiatric disorders.
Gene Information Card
| Symbol | CHRM5 |
|---|---|
| Full Name | Cholinergic Receptor Muscarinic 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 1133 ncbi.nlm.nih.gov/gene/1133 |
| Ensembl ID | ENSG00000184956 |
| UniProt ID | P08912 |
| OMIM ID | 118496 |
| HGNC ID | 1954 |
| Aliases | HM5, M5, M5R, cholinergic receptor, muscarinic 5 |
Description
The CHRM5 gene encodes the muscarinic acetylcholine receptor M5, a member of the G protein-coupled receptor (GPCR) family. This receptor is primarily coupled to Gq/11 proteins, leading to activation of phospholipase C and intracellular calcium mobilization. CHRM5 is expressed in the central nervous system, particularly in the hippocampus, substantia nigra, and ventral tegmental area, and plays a role in modulating dopamine release, cognitive function, and reward pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered cholinergic signaling via M5 receptor may contribute to cognitive deficits and positive symptoms. | ClinVar; PMID: 20628056 |
| Substance Use Disorders | CHRM5 modulates dopamine release in reward pathways; variants may influence addiction susceptibility. | NCBI Gene; PMID: 24842636 |
| Alzheimer's Disease | Loss of cholinergic neurons and M5 receptor dysfunction linked to cognitive decline. | UniProt; PMID: 16980330 |
| Parkinson's Disease | M5 receptor in substantia nigra involved in dopamine regulation; potential target for dyskinesia. | OMIM; PMID: 12629545 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (hippocampus) | 8.2 | Medium |
| Brain (substantia nigra) | 6.5 | Medium |
| Brain (caudate nucleus) | 5.1 | Low |
| Brain (cerebellum) | 2.3 | Low |
| Testis | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 4.5 | Endogenous expression |
| HEK293 (embryonic kidney) | 0.2 | Low; often used for recombinant expression |
| U-87 MG (glioblastoma) | 1.1 | Detectable |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Cys) | Missense | <0.01% | Altered ligand binding; potential loss of function |
| c.1246G>A (p.Val416Met) | Missense | <0.01% | Reduced receptor activation |
| c.1480C>T (p.Arg494*) | Nonsense | <0.01% | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that impair receptor expression or G protein coupling (e.g., p.Arg494*, p.Arg335Cys).
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Muscarinic acetylcholine receptor signaling (Reactome: R-HSA-399719)
• G alpha (q) signaling events (Reactome: R-HSA-416476)
• Cholinergic synapse (KEGG: hsa04725)
Protein Summary
The muscarinic acetylcholine receptor M5 (CHRM5) is a 532-amino acid GPCR with seven transmembrane domains. It is predominantly expressed in the brain, where it modulates dopamine release and cholinergic neurotransmission. The receptor is involved in cognitive processes, reward, and motor control. Mutations in CHRM5 are rare but may contribute to neuropsychiatric conditions. Therapeutic targeting of M5 is explored for schizophrenia, addiction, and Parkinson's disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRM5 Knockout HEK293 Cell Line | EDJ-KQ1552 | Human | 1133 | Details Get a Quote |
| CHRM5 Knockout HeLa Cell Line | EDJ-KQ52899 | Human | 1133 | Details Get a Quote |
| CHRM5 Knockout A-549 Cell Line | EDJ-KQ61368 | Human | 1133 | Details Get a Quote |
| CHRM5 Knockout HCT 116 Cell Line | EDJ-KQ69864 | Human | 1133 | Details Get a Quote |
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