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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MRAP
melanocortin 2 receptor accessory protein
Chromosome 21 Β· 21q22.11
NCBI Gene: 56246Ensembl: ENSG00000170262.14HGNC: HGNC:1304UniProt: Q8TCY5
34PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnegative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathwaynegative regulation of protein localization to plasma membraneendoplasmic reticulumfamilial glucocorticoid deficiencyhypertensionatrial fibrillationIncreased blood pressure
✦AI Summary

MRAP (melanocortin 2 receptor accessory protein) is an essential co-receptor required for the functional expression and signaling of the melanocortin 2 receptor (MC2R), the ACTH receptor in adrenal cells 1. MRAP has a unique antiparallel homodimer structure with dual topology across the cell membrane and performs two distinct functions: facilitating MC2R trafficking to the plasma membrane and enabling ACTH binding and cAMP signaling 2. The protein is absolutely required for MC2R surface expression and ACTH responsiveness, as it forms a stable complex with the receptor 2. Beyond MC2R, MRAP also modulates other melanocortin receptors (MC1R, MC3R, MC4R, MC5R) by enhancing their ligand sensitivity and cAMP generation 3. MRAP expression is regulated by ACTH and angiotensin II in human adrenocortical tissues 4. Mutations in MRAP cause familial glucocorticoid deficiency type 2 (FGD2), accounting for approximately 20% of FGD cases, resulting in ACTH resistance and glucocorticoid deficiency 1. Recent evidence suggests MRAP may also play a role in adipocyte differentiation, particularly in thymic mesenchymal stromal cells during age-related thymic involution 5. The protein's critical role in adrenal steroidogenesis makes it essential for normal glucocorticoid production and stress responses.

Sources cited
1
MRAP is essential for MC2R expression and mutations cause familial glucocorticoid deficiency type 2
PMID: 18493136
2
MRAP has antiparallel homodimer structure and performs dual functions of receptor trafficking and signaling
PMID: 19028547
3
MRAP modulates multiple melanocortin receptors and enhances their ligand sensitivity
PMID: 32679290
4
MRAP expression is regulated by ACTH and angiotensin II in human adrenocortical tissues
PMID: 22419722
5
MRAP promotes adipocyte differentiation in thymic mesenchymal stromal cells
PMID: 41266306
Disease Associationsβ“˜21
familial glucocorticoid deficiencyOpen Targets
0.71Strong
hypertensionOpen Targets
0.53Moderate
atrial fibrillationOpen Targets
0.46Moderate
Increased blood pressureOpen Targets
0.42Moderate
alternating hemiplegia of childhoodOpen Targets
0.37Weak
Cytomegalic congenital adrenal hypoplasiaOpen Targets
0.37Weak
X-linked adrenal hypoplasia congenitaOpen Targets
0.37Weak
response to xenobiotic stimulusOpen Targets
0.34Weak
Abnormality of the skeletal systemOpen Targets
0.34Weak
cardiovascular diseaseOpen Targets
0.34Weak
essential hypertensionOpen Targets
0.34Weak
genetic disorderOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.11Weak
bilirubin metabolism diseaseOpen Targets
0.08Suggestive
arthritisOpen Targets
0.07Suggestive
HypercholesterolemiaOpen Targets
0.07Suggestive
spondylitisOpen Targets
0.04Suggestive
uveitisOpen Targets
0.03Suggestive
Adrenocorticotropic hormone deficiencyOpen Targets
0.03Suggestive
obesity due to pro-opiomelanocortin deficiencyOpen Targets
0.03Suggestive
Glucocorticoid deficiency 2UniProt
Pathogenic Variants9
NM_001379228.1(MRAP):c.206+5G>TLikely pathogenic
not provided|MRAP-related disorder
β˜…β˜…β˜†β˜†2023
NM_001379228.1(MRAP):c.106+1delPathogenic
Glucocorticoid deficiency 1|Glucocorticoid deficiency 2
β˜…β˜…β˜†β˜†2022
NM_001379228.1(MRAP):c.3G>A (p.Met1Ile)Pathogenic
Glucocorticoid deficiency 2|Glucocorticoid deficiency 1
β˜…β˜…β˜†β˜†2017β†’ Residue 1
NM_001379228.1(MRAP):c.106+1G>CPathogenic
Glucocorticoid deficiency 2
β˜…β˜†β˜†β˜†2023
NM_001379228.1(MRAP):c.1A>G (p.Met1Val)Pathogenic
Glucocorticoid deficiency 1
β˜…β˜†β˜†β˜†2017β†’ Residue 1
NM_001379228.1(MRAP):c.17_23del (p.Asn6fs)Pathogenic
Glucocorticoid deficiency 2
β˜†β˜†β˜†β˜†2006β†’ Residue 6
NM_001379228.1(MRAP):c.106+1G>APathogenic
Glucocorticoid deficiency 2
β˜†β˜†β˜†β˜†2005
NM_001379228.1(MRAP):c.106+3_106+4insTPathogenic
Glucocorticoid deficiency 2
β˜†β˜†β˜†β˜†2005
NM_001379228.1(MRAP):c.106+1G>TPathogenic
Glucocorticoid deficiency 2
β˜†β˜†β˜†β˜†2005
View on ClinVar β†—
Related Genes
MC2RProtein interaction100%GNG2Protein interaction83%FGD3Protein interaction81%MC4RProtein interaction80%POMCProtein interaction80%GNB1Protein interaction76%
Tissue Expression6 tissues
Ovary
100%
Heart
71%
Liver
71%
Lung
57%
Brain
46%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MRAPMC2RGNG2FGD3MC4RPOMCGNB1
PROTEIN STRUCTURE
Preparing viewer…
PDB8GY7 Β· 3.30 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.44LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.47–1.44]
RankingsWhere MRAP stands among ~20K protein-coding genes
  • #11,188of 20,598
    Most Researched34
  • #2,981of 5,498
    Most Pathogenic Variants9
  • #14,780of 17,882
    Most Constrained (LOEUF)1.44
Genes detectedMRAP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Lrp1 is a host entry factor for Rift Valley fever virus.
PMID: 34559985
Cell Β· 2021
1.00
2
Emerging roles of melanocortin receptor accessory proteins (MRAP and MRAP2) in physiology and pathophysiology.
PMID: 32679290
Gene Β· 2020
0.90
3
Adrenocorticotropin resistance syndromes.
PMID: 18493136
Endocr Dev Β· 2008
0.80
4
Promiscuity among the MRAPs.
PMID: 28213370
J Mol Endocrinol Β· 2017
0.70
5
MRAP mediated adipocyte differentiation by thymic mesenchymal stromal cells contributes to thymic involution.
PMID: 41266306
Nat Commun Β· 2025
0.60