MC3R Gene (Melanocortin 3 Receptor)
A key regulator of energy homeostasis, feeding behavior, and body weight.
Gene Information Card
| Symbol | MC3R |
|---|---|
| Full Name | Melanocortin 3 Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.2 |
| NCBI Gene ID | 4159 ncbi.nlm.nih.gov/gene/4159 |
| Ensembl ID | ENSG00000124039 |
| UniProt ID | P41968 |
| OMIM ID | 155540 |
| HGNC ID | 6932 |
| Aliases | MC3-R, MC3R1 |
Description
The MC3R gene encodes the melanocortin 3 receptor, a G-protein-coupled receptor (GPCR) for melanocyte-stimulating hormones (MSH) and adrenocorticotropic hormone (ACTH). It is primarily expressed in the brain (hypothalamus) and peripheral tissues, playing a critical role in energy homeostasis, feeding behavior, and body weight regulation. Loss-of-function mutations are associated with obesity and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity (early-onset, severe) | Loss-of-function mutations impair MC3R signaling, leading to reduced energy expenditure and increased food intake. | ClinVar, OMIM |
| Metabolic syndrome | Dysregulation of MC3R-mediated pathways contributes to insulin resistance and altered lipid metabolism. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (hypothalamus) | 12.5 | Medium |
| Adipose tissue | 2.1 | Low |
| Pancreas | 1.8 | Low |
| Kidney | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 3.4 | Neuronal model |
| HEK293 (embryonic kidney) | 0.5 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.17C>T (p.Thr6Ile) | Missense | Rare | Loss of function; reduced cAMP signaling |
| c.238G>A (p.Val80Met) | Missense | Rare | Loss of function; impaired cell surface expression |
| c.478C>T (p.Arg160Trp) | Missense | Rare | Loss of function; altered ligand binding |
Mutation functional classification
Loss of Function (LOF)
Most reported MC3R mutations are loss-of-function, reducing receptor activity and contributing to obesity.
Gain of Function (GOF)
No gain-of-function mutations have been clinically validated for MC3R.
Dominant Negative (DN)
No dominant-negative mutations have been reported for MC3R.
View complete mutation data：
Gene Ontology (GO)
Pathways
• GPCR downstream signaling (P00042)
• Melanocortin system pathway
Protein Summary
The melanocortin 3 receptor (MC3R) is a 323-amino acid protein with seven transmembrane domains. It couples to Gs proteins, activating adenylate cyclase and increasing intracellular cAMP. MC3R is essential for energy balance regulation; its loss-of-function mutations are linked to human obesity. The receptor is expressed in the hypothalamus, where it modulates feeding and energy expenditure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MC3R Knockout HEK293 Cell Line | EDJ-KQ5184 | Human | 4159 | Details Get a Quote |
| MC3R Knockout HeLa Cell Line | EDJ-KQ53850 | Human | 4159 | Details Get a Quote |
| MC3R Knockout A-549 Cell Line | EDJ-KQ62336 | Human | 4159 | Details Get a Quote |
| MC3R Knockout HCT 116 Cell Line | EDJ-KQ70811 | Human | 4159 | Details Get a Quote |
