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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MC2R
melanocortin 2 receptor
Chromosome 18 Β· 18p11.21
NCBI Gene: 4158Ensembl: ENSG00000185231.6HGNC: HGNC:6930UniProt: Q01718
99PubMed Papers
21Diseases
4Drugs
33Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
adenylate cyclase-activating G protein-coupled receptor signaling pathwayplasma membranecorticotropin receptor activityprotein bindingfamilial glucocorticoid deficiencymultiple sclerosisinfantile spasmsgenetic disorder
✦AI Summary

MC2R is a G protein-coupled receptor that serves as the primary ACTH (adrenocorticotropin) receptor, predominantly expressed in the adrenal cortex where it regulates adrenocortical function 1. Upon ACTH binding, MC2R couples to Gs protein and activates adenylate cyclase, stimulating the cAMP-dependent signaling pathway, MAPK cascade, and PKA pathway, which converge on steroidogenic factor 1-mediated transcriptional activation 1. This signaling cascade directly mediates the release of adrenal glucocorticoids including cortisol and corticosterone 2. MC2R function requires the melanocortin receptor accessory protein (MRAP) for proper cell surface expression and ACTH binding; mutations in either MC2R or MRAP cause familial glucocorticoid deficiency (FGD), an autosomal recessive disorder characterized by ACTH insensitivity 3. MC2R mutations account for approximately 25% of FGD type 1 cases 3, while MRAP mutations account for 20% of FGD type 2 cases 3. Beyond adrenal function, MC2R is expressed in ocular tissues where it participates in immune regulation, though pharmacological targeting of other melanocortin receptors is preferred therapeutically to avoid MC2R-mediated corticosteroid production 4.

Sources cited
1
MC2R is the ACTH receptor expressed in adrenal cortex; activates Gs protein, adenylate cyclase, cAMP, MAPK and PKA pathways leading to steroidogenic factor 1-mediated transcriptional activation
PMID: 1325670
2
ACTH activation of MC2R facilitates release of adrenal glucocorticoids including cortisol and corticosterone
PMID: 12213892
3
MC2R mutations account for ~25% of FGD type 1 cases; MRAP mutations account for 20% of FGD type 2 cases; MRAP is essential for MC2R functional expression
PMID: 18493136
4
MC2R is expressed in ocular tissues; melanocortin peptides targeting MC1R, MC3R, MC4R and MC5R but not MC2R produce minimal corticosteroid production with fewer adverse effects
PMID: 37217094
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
familial glucocorticoid deficiencyOpen Targets
0.80Strong
multiple sclerosisOpen Targets
0.56Moderate
infantile spasmsOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
diabetic nephropathyOpen Targets
0.39Weak
alternating hemiplegia of childhoodOpen Targets
0.37Weak
adrenocortical insufficiencyOpen Targets
0.37Weak
Cytomegalic congenital adrenal hypoplasiaOpen Targets
0.37Weak
essential hypertensionOpen Targets
0.37Weak
ulcerative colitisOpen Targets
0.37Weak
X-linked adrenal hypoplasia congenitaOpen Targets
0.37Weak
rheumatoid arthritisOpen Targets
0.28Weak
nephrotic syndromeOpen Targets
0.26Weak
focal segmental glomerulosclerosisOpen Targets
0.26Weak
kidney diseaseOpen Targets
0.26Weak
relapsing-remitting multiple sclerosisOpen Targets
0.26Weak
sarcoidosisOpen Targets
0.23Weak
amyotrophic lateral sclerosisOpen Targets
0.21Weak
JaundiceOpen Targets
0.16Weak
membranous glomerulonephritisOpen Targets
0.08Suggestive
Glucocorticoid deficiency 1UniProt
Pathogenic Variants33
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)Pathogenic
Glucocorticoid deficiency 1|Glucocorticoid Deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 137
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)Pathogenic
Glucocorticoid deficiency 1|Glucocorticoid Deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 74
NM_000529.2(MC2R):c.437G>A (p.Arg146His)Pathogenic
Glucocorticoid deficiency 1|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 146
NM_000529.2(MC2R):c.767C>T (p.Ser256Phe)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 256
NM_000529.2(MC2R):c.459dup (p.Ile154fs)Pathogenic
Glucocorticoid deficiency 1|Glucocorticoid Deficiency
β˜…β˜…β˜†β˜†2023β†’ Residue 154
NM_000529.2(MC2R):c.681_688dup (p.Phe230fs)Pathogenic
Glucocorticoid deficiency 1
β˜…β˜…β˜†β˜†2022β†’ Residue 230
NM_000529.2(MC2R):c.676G>A (p.Gly226Arg)Pathogenic
Glucocorticoid deficiency 1
β˜…β˜†β˜†β˜†2024β†’ Residue 226
NM_000529.2(MC2R):c.357del (p.Phe119fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 119
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter)Likely pathogenic
Glucocorticoid deficiency 1
β˜…β˜†β˜†β˜†2024β†’ Residue 201
NM_000529.2(MC2R):c.433C>T (p.Arg145Cys)Likely pathogenic
Glucocorticoid Deficiency|Glucocorticoid deficiency 1
β˜…β˜†β˜†β˜†2023β†’ Residue 145
NM_000529.2(MC2R):c.696G>A (p.Trp232Ter)Likely pathogenic
Glucocorticoid deficiency 1
β˜…β˜†β˜†β˜†2023β†’ Residue 232
NM_000529.2(MC2R):c.434_440del (p.Arg145fs)Likely pathogenic
Glucocorticoid deficiency 1
β˜…β˜†β˜†β˜†2023β†’ Residue 145
NM_000529.2(MC2R):c.817C>T (p.Pro273Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 273
NM_000529.2(MC2R):c.307G>A (p.Asp103Asn)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 103
NM_000529.2(MC2R):c.634del (p.Arg212fs)Likely pathogenic
Glucocorticoid Deficiency|not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 212
NM_000529.2(MC2R):c.560del (p.Val187fs)Pathogenic
Glucocorticoid Deficiency|Glucocorticoid deficiency 1
β˜…β˜†β˜†β˜†2021β†’ Residue 187
NM_000529.2(MC2R):c.676G>C (p.Gly226Arg)Likely pathogenic
Glucocorticoid deficiency 1
β˜…β˜†β˜†β˜†2021β†’ Residue 226
NM_000529.2(MC2R):c.145G>A (p.Val49Met)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 49
NM_000529.2(MC2R):c.579_581del (p.Tyr193_Val194delinsTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 193
NM_000529.2(MC2R):c.702del (p.Phe235fs)Pathogenic
Glucocorticoid deficiency 1
β˜…β˜†β˜†β˜†2015β†’ Residue 235
View on ClinVar β†—
Drug Targets4
CORTICOTROPINApproved
Melanocortin receptor 2 agonist
infantile spasms
CORTICOTROPIN ZINC HYDROXIDEApproved
Melanocortin receptor 2 agonist
ulcerative colitis
COSYNTROPINApproved
Melanocortin receptor 2 agonist
adrenocortical insufficiency
SERACTIDE ACETATEApproved
Melanocortin receptor 2 agonist
essential hypertension
Related Genes
MRAPProtein interaction100%STARProtein interaction98%GNASProtein interaction95%MRAP2Protein interaction94%FSHBProtein interaction92%VIPProtein interaction92%
Tissue Expression6 tissues
Ovary
100%
Liver
83%
Lung
83%
Brain
25%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MC2RMRAPSTARGNASMRAP2FSHBVIP
PROTEIN STRUCTURE
Preparing viewer…
PDB9K3L Β· 3.01 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.39LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.51–1.39]
RankingsWhere MC2R stands among ~20K protein-coding genes
  • #4,845of 20,598
    Most Researched99 Β· top quartile
  • #419of 1,025
    FDA-Approved Drug Targets4
  • #1,722of 5,498
    Most Pathogenic Variants33
  • #14,422of 17,882
    Most Constrained (LOEUF)1.39
Genes detectedMC2R
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The multifunctional human ocular melanocortin system.
PMID: 37217094
Prog Retin Eye Res Β· 2023
1.00
2
Adrenocorticotropin resistance syndromes.
PMID: 18493136
Endocr Dev Β· 2008
0.90
3
Aberrant hormone receptors regulate a wide spectrum of endocrine tumors.
PMID: 39326429
Lancet Diabetes Endocrinol Β· 2024
0.80
4
Evolution of the melanocortin-2 receptor in tetrapods: studies on Xenopus tropicalis MC2R and Anolis carolinensis MC2R.
PMID: 23639234
Gen Comp Endocrinol Β· 2013
0.70
5
Modeling the interactions between MC2R and ACTH models from human.
PMID: 24708442
J Biomol Struct Dyn Β· 2015
0.60