MC2R

Protein identityUniProt · HPA

UniProt accession

Q01718

Gene

MC2R

Ensembl

ENSG00000185231

Chromosome

18

Canonical length

297 aa

Protein class

Disease related genes, FDA approved drug targets, G-protein coupled receptors, Human disease related genes, Predicted membrane proteins, Transporters

Quaternary structure

Homodimer

OverviewNCBI Gene

MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]

Canonical amino-acid sequenceUniProt

297 residues, UniProt reviewed canonical sequence.

>Q01718|MC2R
     1  MKHIINSYEN INNTARNNSD CPRVVLPEEI FFTISIVGVL ENLIVLLAVF KNKNLQAPMY
    61  FFICSLAISD MLGSLYKILE NILIILRNMG YLKPRGSFET TADDIIDSLF VLSLLGSIFS
   121  LSVIAADRYI TIFHALRYHS IVTMRRTVVV LTVIWTFCTG TGITMVIFSH HVPTVITFTS
   181  LFPLMLVFIL CLYVHMFLLA RSHTRKISTL PRANMKGAIT LTILLGVFIF CWAPFVLHVL
   241  LMTFCPSNPY CACYMSLFQV NGMLIMCNAV IDPFIYAFRS PELRDAFKKM IFCSRYW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MC2R can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

6

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

51 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MC2R.

Disease | AllUniProt

Conditions MC2R is implicated in, by any mechanism.

• Glucocorticoid deficiency 1 (GCCD1) MIM:202200

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 189 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Glucocorticoid deficiency 1
• Glucocorticoid Deficiency
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.85

gnomAD pLI

0

gnomAD missense Z

0.01

DepMap mean gene effect

0.11

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adenylate cyclase-activating G protein-coupled receptor signaling pathway
• G protein-coupled receptor signaling pathway
• G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger

Molecular functions

• corticotropin receptor activity
• G protein-coupled receptor activity
• melanocortin receptor activity

Cellular components

• cytoplasm
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• G protein-coupled receptor, rhodopsin-like
• Melanocortin/ACTH receptor
• GPCR, rhodopsin-like, 7TM
• 7 transmembrane receptor (rhodopsin family)
• Adrenocorticotrophin (ACTH) receptor

KeywordsUniProt

• Calcium
• Cell membrane
• Disulfide bond
• G-protein coupled receptor
• Glycoprotein
• Lipoprotein
• Membrane
• Metal-binding
• Palmitate
• Receptor
• Transducer
• Transmembrane
• Transmembrane helix
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of MC2R in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MRAP
• MRAP2
• YWHAH