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Aliases for MC2R Gene

Aliases for MC2R Gene

  • Melanocortin 2 Receptor (Adrenocorticotropic Hormone) 2 3
  • Adrenocorticotropin Receptor 3 4
  • ACTH Receptor 3 4
  • ACTHR 3 4
  • Adrenocorticotropic Hormone Receptor 3
  • Melanocortin Receptor 2 4
  • Corticotropin Receptor 3
  • MC2 Receptor 3
  • ACTH-R 4
  • MC2-R 4

External Ids for MC2R Gene

Previous GeneCards Identifiers for MC2R Gene

  • GC18M013963

Summaries for MC2R Gene

Entrez Gene Summary for MC2R 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]

GeneCards Summary for MC2R Gene

MC2R (Melanocortin 2 Receptor (Adrenocorticotropic Hormone)) is a Protein Coding gene. Diseases associated with MC2R include glucocorticoid deficiency, due to acth unresponsiveness and familial glucocorticoid deficiency. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include melanocortin receptor activity and corticotropin receptor activity. An important paralog of this gene is LPAR1.

UniProtKB/Swiss-Prot for MC2R Gene

  • Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP).

Tocris Summary for MC2R Gene

  • Melanocortin receptors are activated by members of the melanocortin family: alpha-, beta- and gamma-melanocyte stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH). Endogenous antagonists include agouti and agouti-related protein (AgRP). The melanocortin receptors are G-protein-coupled and 5 subtypes exist, MC1-5. The melanocortins are involved in a wide range of physiological functions, including pigmentation, energy homeostasis, inflammation, immunomodulation, steroidogenesis and temperature control.

Gene Wiki entry for MC2R Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MC2R Gene

Genomics for MC2R Gene

Regulatory Elements for MC2R Gene

Genomic Location for MC2R Gene

13,882,044 bp from pter
13,915,707 bp from pter
33,664 bases
Minus strand

Genomic View for MC2R Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MC2R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MC2R Gene

Proteins for MC2R Gene

  • Protein details for MC2R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Adrenocorticotropic hormone receptor
    Protein Accession:
    Secondary Accessions:
    • A8K016
    • Q3MI45
    • Q504X6

    Protein attributes for MC2R Gene

    297 amino acids
    Molecular mass:
    33927 Da
    Quaternary structure:
    • Interacts with MRAP; increasing ligand-sensitivity and generation of cAMP. Interacts with MRAP2; competing with MRAP for binding to MC2R and impairing the binding of corticotropin (ACTH).

neXtProt entry for MC2R Gene

Proteomics data for MC2R Gene at MOPED

Post-translational modifications for MC2R Gene

  • Glycosylation at Asn12 and Asn17
  • Modification sites at PhosphoSitePlus

Other Protein References for MC2R Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MC2R Gene

Domains for MC2R Gene

Gene Families for MC2R Gene

Suggested Antigen Peptide Sequences for MC2R Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the G-protein coupled receptor 1 family.
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with MC2R: view

Function for MC2R Gene

Molecular function for MC2R Gene

GENATLAS Biochemistry:
melanocortin receptor 2,expressed in melanocytes adrenal cortex,G protein coupled receptor superfamily,with a loss of heterozygosity (LOH) in adrenocortical carcinoma
UniProtKB/Swiss-Prot Function:
Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP).

Gene Ontology (GO) - Molecular Function for MC2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity --
GO:0004977 melanocortin receptor activity TAS 1325670
GO:0004978 corticotropin receptor activity IEA --
GO:0005515 protein binding IPI 19329486
genes like me logo Genes that share ontologies with MC2R: view
genes like me logo Genes that share phenotypes with MC2R: view

Animal Models for MC2R Gene

MGI Knock Outs for MC2R:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MC2R

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for MC2R Gene

Localization for MC2R Gene

Subcellular locations from UniProtKB/Swiss-Prot for MC2R Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for MC2R Gene COMPARTMENTS Subcellular localization image for MC2R gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MC2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9175632
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with MC2R: view

Pathways for MC2R Gene

genes like me logo Genes that share pathways with MC2R: view

Pathways by source for MC2R Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MC2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001890 placenta development IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS 1325670
GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS 9175632
GO:0007218 neuropeptide signaling pathway TAS 9175632
GO:0030819 positive regulation of cAMP biosynthetic process IDA 19329486
genes like me logo Genes that share ontologies with MC2R: view

Drugs for MC2R Gene

(2) Drugbank Compounds for MC2R Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • ACTH
9002-60-2 Target agonist approved
  • Adrenocorticotropic hormone 1-24
16960-16-0 Target antagonist approved

(5) Tocris Compounds for MC2R Gene

Compound Action Cas Number
[D-Trp8]-gamma-MSH Selective MC3 receptor agonist [321351-81-9]
[Nle4,D-Phe7]-alpha-MSH Melanocortin receptor agonist [75921-69-6]
ACTH (1-39) Potent endogenous MC2 agonist [12279-41-3]
BMS 470539 dihydrochloride Potent, selective MC1 receptor agonist [457893-92-4]
MCL 0020 Selective MC4 receptor antagonist [475498-26-1]

(3) IUPHAR Ligand for MC2R Gene

Ligand Type Action Affinity Pubmed IDs
ACTH-(11-24) Antagonist Antagonist 9
ASIP [90-132 (L89Y)] Antagonist Inverse agonist 8.1
[125I]ACTH-(1?ao24) None None

(24) Novoseek inferred chemical compound relationships for MC2R Gene

Compound -log(P) Hits PubMed IDs
acth 93.4 254
acth 1-24 75.5 9
cpas 68.1 2
aminoglutethimide 60.7 9
3beta-hydroxysteroid 56.5 2
genes like me logo Genes that share compounds with MC2R: view

Transcripts for MC2R Gene

mRNA/cDNA for MC2R Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MC2R Gene

Melanocortin 2 receptor (adrenocorticotropic hormone):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MC2R

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MC2R Gene

No ASD Table

Relevant External Links for MC2R Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MC2R Gene

mRNA expression in normal human tissues for MC2R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MC2R Gene

This gene is overexpressed in Adrenal Gland (51.5).

Protein differential expression in normal tissues for MC2R Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MC2R Gene

SOURCE GeneReport for Unigene cluster for MC2R Gene Hs.248144

mRNA Expression by UniProt/SwissProt for MC2R Gene

Tissue specificity: Melanocytes and corticoadrenal tissue
genes like me logo Genes that share expressions with MC2R: view

Expression partners for MC2R Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for MC2R Gene

This gene was present in the common ancestor of chordates.

Orthologs for MC2R Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MC2R 35
  • 85.36 (n)
  • 81.42 (a)
MC2R 36
  • 81 (a)
(Canis familiaris)
Mammalia MC2R 35
  • 87.23 (n)
  • 90.85 (a)
MC2R 36
  • 91 (a)
(Mus musculus)
Mammalia Mc2r 35
  • 84.46 (n)
  • 88.85 (a)
Mc2r 16
Mc2r 36
  • 89 (a)
(Pan troglodytes)
Mammalia MC2R 35
  • 99.21 (n)
  • 99.33 (a)
MC2R 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Mc2r 35
  • 85.59 (n)
  • 90.2 (a)
(Monodelphis domestica)
Mammalia MC2R 36
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia MC2R 36
  • 67 (a)
(Gallus gallus)
Aves MC2R 35
  • 67.92 (n)
  • 70.21 (a)
MC2R 36
  • 57 (a)
(Anolis carolinensis)
Reptilia MC2R 36
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491330 35
  • 61.87 (n)
  • 62.11 (a)
(Danio rerio)
Actinopterygii mc2r 35
  • 56.44 (n)
  • 50.9 (a)
mc2r 36
  • 48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
-- 36
  • 18 (a)
Species with no ortholog for MC2R:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MC2R Gene

Gene Tree for MC2R (if available)
Gene Tree for MC2R (if available)

Paralogs for MC2R Gene

(5) SIMAP similar genes for MC2R Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MC2R: view

Variants for MC2R Gene

Sequence variations from dbSNP and Humsavar for MC2R Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs754514 -- 13,910,866(+) CTGGC(A/G)GATGC intron-variant
rs754515 -- 13,911,119(+) AGCTG(C/G)GGTGA intron-variant
rs877127 -- 13,911,656(-) TCCAG(A/T)GCAAG intron-variant
rs877128 -- 13,911,629(-) TACCC(A/G)CTGCA intron-variant
rs948322 -- 13,886,847(+) ATCAC(A/G)GCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MC2R Gene

Variant ID Type Subtype PubMed ID
nsv909414 CNV Gain 21882294
dgv492e201 CNV Deletion 23290073
esv2716825 CNV Deletion 23290073
esv1935496 CNV Deletion 18987734
esv2224461 CNV Deletion 18987734
esv989455 CNV Deletion 20482838
esv2666033 CNV Deletion 23128226
esv2716827 CNV Deletion 23290073

Relevant External Links for MC2R Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MC2R Gene

Disorders for MC2R Gene

(1) OMIM Diseases for MC2R Gene (607397)


  • Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]: A rare, potentially lethal, autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. {ECO:0000269 PubMed:10971458, ECO:0000269 PubMed:12213892, ECO:0000269 PubMed:8094489, ECO:0000269 PubMed:8227361, ECO:0000269 PubMed:8636348}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MC2R Gene

(20) Novoseek inferred disease relationships for MC2R Gene

Disease -log(P) Hits PubMed IDs
acth resistance 96.5 11
allgrove syndrome 86.1 4
adrenocortical cancer 80.7 1
carcinoma adrenocortical 78.1 5
adrenal tumor 73.3 7

Genatlas disease for MC2R Gene

Addison disease with ACTH resistant adrenal insufficiency and glucocorticoid deficiency,characterized by failure to thrive,weakness and fatigue or adrenal crisis

Relevant External Links for MC2R

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with MC2R: view

Publications for MC2R Gene

  1. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. (PMID: 15654338) Metherell L.A. … Clark A.J.L. (Nat. Genet. 2005) 3 4 23
  2. ACTH receptor promoter polymorphism associates with severity of premature adrenarche and modulates hypothalamo-pituitary-adrenal axis in children. (PMID: 18356748) Lappalainen S. … JAoAoskelAoinen J. (Pediatr. Res. 2008) 3 23 48
  3. Association of polymorphisms in the melanocortin receptor type 2 (MC2R, ACTH receptor) gene with heroin addiction. (PMID: 18359160) Proudnikov D. … Kreek M.J. (Neurosci. Lett. 2008) 3 23 48
  4. Further evidence for the role of ENPP1 in obesity: association with morbid obesity in Finns. (PMID: 18551113) Valli-Jaakola K. … Kontula K. (Obesity (Silver Spring) 2008) 3 23 48
  5. Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms. (PMID: 19024088) Liu Z.L. … Zou L.P. (Chin. Med. J. 2008) 3 23 48

Products for MC2R Gene

Sources for MC2R Gene

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