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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

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

Genomic Location for MC2R Gene

Start:
13,882,044 bp from pter
End:
13,915,707 bp from pter
Size:
33,664 bases
Orientation:
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

Regulatory Elements for MC2R Gene

Proteins for MC2R Gene

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

    Protein Symbol:
    Q01718-ACTHR_HUMAN
    Recommended name:
    Adrenocorticotropic hormone receptor
    Protein Accession:
    Q01718
    Secondary Accessions:
    • A8K016
    • Q3MI45
    • Q504X6

    Protein attributes for MC2R Gene

    Size:
    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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn12 and Asn17

Other Protein References for MC2R Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MC2R Gene

Domains for MC2R Gene

Gene Families for MC2R Gene

HGNC:
  • MCNR :GPCR / Class A : Melanocortin receptors
IUPHAR :

UniProtKB/Swiss-Prot:

ACTHR_HUMAN
Family:
  • Belongs to the G-protein coupled receptor 1 family.:
    • Q01718
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:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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

COMPARTMENTS
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

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

Compounds for MC2R Gene

(5) Tocris Compounds for MC2R Gene

Compound Action Cas Number
[D-Trp8]-gamma-MSH Selective MC3 receptor agonist [321351-81-9]
alpha-MSH Endogenous melanocortin receptor agonist [581-05-5]
HS 014 Selective MC4 receptor antagonist [207678-81-7]
PG 106 Selective MC3 receptor antagonist [944111-22-2]
SHU 9119 MC3 and MC4 antagonist, MC5 partial agonist [168482-23-3]

(2) Drugbank Compounds for MC2R Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Corticotropin
  • ACTH
9002-60-2 target agonist
Cosyntropin
16960-16-0 target antagonist

(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:

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

No ASD Table

Relevant External Links for MC2R Gene

GeneLoc Exon Structure for
MC2R
ECgene alternative splicing isoforms for
MC2R

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).

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

Q01718-ACTHR_HUMAN
Tissue specificity: Melanocytes and corticoadrenal tissue
genes like me logo Genes that share expressions with MC2R: view

Orthologs for MC2R Gene

This gene was present in the common ancestor of chordates.

Orthologs for MC2R Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MC2R 36
  • 99.21 (n)
  • 99.33 (a)
MC2R 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MC2R 36
  • 85.36 (n)
  • 81.42 (a)
MC2R 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MC2R 36
  • 87.23 (n)
  • 90.85 (a)
MC2R 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mc2r 36
  • 84.46 (n)
  • 88.85 (a)
Mc2r 16
Mc2r 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MC2R 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MC2R 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mc2r 36
  • 85.59 (n)
  • 90.2 (a)
chicken
(Gallus gallus)
Aves MC2R 36
  • 67.92 (n)
  • 70.21 (a)
MC2R 37
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MC2R 37
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491330 36
  • 61.87 (n)
  • 62.11 (a)
zebrafish
(Danio rerio)
Actinopterygii mc2r 36
  • 56.44 (n)
  • 50.9 (a)
mc2r 37
  • 48 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 17 (a)
ManyToMany
-- 37
  • 18 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for MC2R (if available)
TreeFam:
Gene Tree for MC2R (if available)

Paralogs for MC2R Gene

Selected 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
MC2R
Human Gene Mutation Database (HGMD)
MC2R

Disorders for MC2R Gene

(1) OMIM Diseases for MC2R Gene (607397)

UniProtKB/Swiss-Prot

ACTHR_HUMAN
  • 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)
MC2R
Human Genome Epidemiology (HuGE) Navigator
MC2R
genes like me logo Genes that share disorders with MC2R: view

Publications for MC2R Gene

  1. Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. (PMID: 12213892) Fluck C.E. … Miller W.L. (J. Clin. Endocrinol. Metab. 2002) 3 4 23
  2. Characterization of an adrenocorticotropin (ACTH) receptor promoter polymorphism leading to decreased adrenal responsiveness to ACTH. (PMID: 15240582) Slawik M. … Beuschlein F. (J. Clin. Endocrinol. Metab. 2004) 3 23 49
  3. 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
  4. 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 49
  5. 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 49

Products for MC2R Gene

Sources for MC2R Gene

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