MC5R Gene - Melanocortin 5 Receptor
A G-protein coupled receptor involved in exocrine gland function and immune regulation
Gene Information Card
| Symbol | MC5R |
|---|---|
| Full Name | melanocortin 5 receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.21 |
| NCBI Gene ID | 4161 ncbi.nlm.nih.gov/gene/4161 |
| Ensembl ID | ENSG00000176136 |
| UniProt ID | P33032 |
| OMIM ID | 600042 |
| HGNC ID | 6934 |
| Aliases | MC5-R |
Description
The MC5R gene encodes the melanocortin 5 receptor, a G-protein coupled receptor (GPCR) that binds melanocortins such as ACTH and alpha-MSH. It is primarily expressed in exocrine glands (e.g., lacrimal, sebaceous, and sweat glands) and plays a key role in regulating exocrine secretion, immune responses, and energy homeostasis. The receptor activates adenylate cyclase and increases intracellular cAMP levels upon ligand binding.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sebaceous gland dysfunction | Loss-of-function mutations impair sebum production, leading to dry skin and altered barrier function | OMIM #600042 |
| Inflammatory skin disorders | MC5R signaling modulates cytokine release; dysregulation may contribute to acne or dermatitis | NCBI Gene (gene ID 4161) |
| Obesity-related metabolic syndrome | MC5R variants associated with altered energy expenditure and fat metabolism | ClinVar (gene MC5R) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 12.5 | Medium |
| Skin | 8.3 | Medium |
| Lacrimal gland | 15.1 | High |
| Salivary gland | 10.2 | Medium |
| Sweat gland | 9.8 | Medium |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.7 | Moderate expression |
| A431 (epidermoid carcinoma) | 12.3 | High expression |
| HaCaT (keratinocyte) | 9.5 | Moderate expression |
| MCF7 (breast cancer) | 2.1 | Low expression |
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.200C>T (p.Thr67Ile) | missense | <0.01% | Reduced receptor activity in vitro |
| c.457G>A (p.Val153Met) | missense | <0.01% | Altered ligand binding; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Met1? and p.Thr67Ile reduce or abolish receptor signaling, impairing exocrine gland function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MC5R.
Dominant Negative (DN)
No evidence of dominant-negative effects for MC5R mutations.
View complete mutation data：
Gene Ontology (GO)
| • G-protein coupled receptor activity (GO:0004930) | • melanocortin receptor activity (GO:0004977) |
| • adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189) | • positive regulation of cAMP-mediated signaling (GO:0030819) |
| • exocrine gland development (GO:0035272) |
Pathways
• Melanocortin system (R-HSA-388396)
• GPCR downstream signaling (R-HSA-388396)
Protein Summary
The melanocortin 5 receptor (MC5R) is a 325-amino acid GPCR with seven transmembrane domains. It is activated by ACTH and alpha-MSH, leading to Gs-mediated cAMP production. MC5R is essential for exocrine gland secretion, particularly sebum production, and modulates immune responses. Its expression is highest in exocrine tissues, and loss-of-function mutations are linked to dry skin and inflammatory conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MC5R Knockout HEK293 Cell Line | EDJ-KQ5187 | Human | 4161 | Details Get a Quote |
| MC5R Knockout HeLa Cell Line | EDJ-KQ53852 | Human | 4161 | Details Get a Quote |
| MC5R Knockout A-549 Cell Line | EDJ-KQ62338 | Human | 4161 | Details Get a Quote |
| MC5R Knockout HCT 116 Cell Line | EDJ-KQ70813 | Human | 4161 | Details Get a Quote |
