MRAP2: Melanocortin 2 Receptor Accessory Protein 2
A key regulator of melanocortin receptor signaling, energy homeostasis, and obesity susceptibility.
Gene Information Card
| Symbol | MRAP2 |
|---|---|
| Full Name | Melanocortin 2 Receptor Accessory Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q14.3 |
| NCBI Gene ID | 112609 ncbi.nlm.nih.gov/gene/112609 |
| Ensembl ID | ENSG00000182484 |
| UniProt ID | Q96G30 |
| OMIM ID | 615410 |
| HGNC ID | 26462 |
| Aliases | C6orf117, bA209J19.1, FLJ32942 |
Description
MRAP2 encodes a small single-transmembrane domain protein that functions as an accessory protein for melanocortin receptors, particularly MC2R and MC4R. It is essential for the trafficking, cell surface expression, and signaling of these GPCRs. MRAP2 is highly expressed in the brain and adrenal gland and plays a critical role in energy balance, body weight regulation, and adrenal steroidogenesis. Loss-of-function mutations in MRAP2 are associated with early-onset obesity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity, early-onset | Loss-of-function mutations impair MC4R signaling in the hypothalamus, disrupting appetite regulation and energy expenditure. | PMID: 23572184, ClinVar |
| Adrenal insufficiency (rare) | Defective MC2R trafficking due to MRAP2 dysfunction may impair cortisol production. | PMID: 23572184 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Adrenal gland | 8.3 | Low |
| Testis | 6.1 | Low |
| Kidney | 4.2 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 9.8 | Common overexpression system |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.206C>T (p.Thr69Ile) | Missense | 0.01% (gnomAD) | Loss of function; impaired MC4R trafficking |
| c.286C>T (p.Arg96*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Most MRAP2 mutations linked to obesity are loss-of-function, reducing MC4R cell surface expression and signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • signaling receptor activity (GO:0038023) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • G protein-coupled receptor signaling pathway (GO:0007186) |
| • identical protein binding (GO:0042802) |
Pathways
• Melanocortin receptor signaling pathway (R-HSA-388396)
• GPCR downstream signaling (R-HSA-388396)
Protein Summary
MRAP2 is a 205-amino acid single-pass transmembrane protein. It forms homodimers and heterodimers with MRAP1. It is essential for the correct trafficking and function of melanocortin 2 receptor (MC2R) and melanocortin 4 receptor (MC4R). MRAP2 facilitates receptor glycosylation, cell surface expression, and ligand-induced cAMP signaling. It is predominantly expressed in the brain and adrenal gland.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRAP2 Knockout HEK293 Cell Line | EDJ-KQ7387 | Human | 112609 | Details Get a Quote |
| MRAP2 Knockout A-549 Cell Line | EDJ-KQ31161 | Human | 112609 | Details Get a Quote |
| MRAP2 Knockout HCT 116 Cell Line | EDJ-KQ32533 | Human | 112609 | Details Get a Quote |
| MRAP2 Knockout HeLa Cell Line | EDJ-KQ32534 | Human | 112609 | Details Get a Quote |
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