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Aliases for MC2R Gene

Aliases for MC2R Gene

  • Melanocortin 2 Receptor 2 3
  • Melanocortin 2 Receptor (Adrenocorticotropic Hormone) 2 3 5
  • Adrenocorticotropin Receptor 3 4
  • ACTH Receptor 3 4
  • ACTHR 3 4
  • Adrenocorticotropic Hormone Receptor 2
  • 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
  • GC18M013874

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) 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 Peptide ligand-binding receptors and cAMP signaling pathway. GO annotations related to this gene include G-protein coupled receptor activity and corticotropin receptor activity. An important paralog of this gene is MC4R.

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). The melanocortins are involved in a range of physiological functions, including pigmentation and inflammation.

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

Enhancers for MC2R Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MC2R on UCSC Golden Path with GeneCards custom track

Genomic Location for MC2R Gene

Chromosome:
18
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

Genes around MC2R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MC2R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    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

  • Glycosylation at Asn 12 and Asn 17
  • Modification sites at PhosphoSitePlus

Other Protein References for MC2R Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MC2R Gene

Domains & Families 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

Q01718

UniProtKB/Swiss-Prot:

ACTHR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
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:0004978 corticotropin receptor activity IEA --
genes like me logo Genes that share ontologies with MC2R: view
genes like me logo Genes that share phenotypes with MC2R: view

Human Phenotype Ontology for MC2R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MC2R Gene

MGI Knock Outs for MC2R:

Animal Model Products

  • Taconic Biosciences Mouse Models for MC2R

miRNA for MC2R Gene

miRTarBase miRNAs that target MC2R

No data available for Enzyme Numbers (IUBMB) , 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

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

Gene Ontology (GO) - Cellular Components for MC2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MC2R: view

Pathways & Interactions for MC2R Gene

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

Gene Ontology (GO) - Biological Process for MC2R Gene

None

No data available for SIGNOR curated interactions for MC2R Gene

Drugs & Compounds for MC2R Gene

(23) Drugs for MC2R Gene - From: DrugBank, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Corticotropin Approved Pharma Target, agonist 0
Cosyntropin Approved Pharma antagonist, Target 25
ACTH-(11-24) Pharma Antagonist 0
ASIP [90-132 (L89Y)] Pharma Inverse agonist, Antagonist 0
[<SUP>125</SUP>I]ACTH-(1–24) Pharma 0

(14) Additional Compounds for MC2R Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>125</sup>I]ACTH-(1?ao24)
[Nle4,D-Phe7]-alpha-MSH
75921-69-6
gamma1-MSH
72629-65-3
Melanotan II
121062-08-6

(5) Tocris Compounds for MC2R Gene

Compound Action Cas Number
[Nle4,D-Phe7]-alpha-MSH Melanocortin receptor agonist 75921-69-6
alpha-MSH Endogenous melanocortin receptor agonist 581-05-5
gamma1-MSH Selective MC3 receptor agonist 72629-65-3
Melanotan II High affinity melanocortin receptor agonist 121062-08-6
THIQ Potent and selective MC4 receptor agonist 312637-48-2
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 (x51.5).

Protein differential expression in normal tissues from HIPED for MC2R Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MC2R: view

Protein tissue co-expression partners for MC2R Gene

Primer 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
cow
(Bos Taurus)
Mammalia MC2R 35
  • 85.36 (n)
  • 81.42 (a)
MC2R 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MC2R 35
  • 87.23 (n)
  • 90.85 (a)
MC2R 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mc2r 35
  • 84.46 (n)
  • 88.85 (a)
Mc2r 16
Mc2r 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MC2R 35
  • 99.21 (n)
  • 99.33 (a)
MC2R 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mc2r 35
  • 85.59 (n)
  • 90.2 (a)
oppossum
(Monodelphis domestica)
Mammalia MC2R 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MC2R 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves MC2R 35
  • 67.92 (n)
  • 70.21 (a)
MC2R 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MC2R 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491330 35
  • 61.87 (n)
  • 62.11 (a)
zebrafish
(Danio rerio)
Actinopterygii mc2r 35
  • 56.44 (n)
  • 50.9 (a)
mc2r 36
  • 48 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
ManyToMany
-- 36
  • 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

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
rs28926178 - 13,885,439(-) TTTGC(A/C/G/T)GGAGG reference, missense
VAR_003510 Glucocorticoid deficiency 1 (GCCD1)
VAR_003511 Glucocorticoid deficiency 1 (GCCD1)
VAR_003512 Glucocorticoid deficiency 1 (GCCD1)
VAR_003513 Glucocorticoid deficiency 1 (GCCD1)

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

Variation tolerance for MC2R Gene

Residual Variation Intolerance Score: 52.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.47; 54.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MC2R Gene

Human Gene Mutation Database (HGMD)
MC2R

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

Disorders for MC2R Gene

MalaCards: The human disease database

(13) MalaCards diseases for MC2R Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glucocorticoid deficiency, due to acth unresponsiveness
  • familial glucocorticoid deficiency
familial glucocorticoid deficiency
  • acth resistance
adrenal cortical carcinoma
  • adrenocortical carcinoma
addison's disease
  • addison disease
achalasia-addisonianism-alacrimia syndrome
  • triple-a syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MC2R in MalaCards View complete list of genes associated with diseases

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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MC2R
genes like me logo Genes that share disorders with MC2R: view

Publications for MC2R Gene

  1. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. (PMID: 8227361) Tsigos C. … Chrousos G.P. (J. Clin. Invest. 1993) 3 4 48 67
  2. Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. (PMID: 17223989) Lin L. … Achermann J.C. (Clin. Endocrinol. (Oxf) 2007) 3 23 25
  3. Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. (PMID: 19558534) Chung T.T. … Clark A.J. (Clin. Endocrinol. (Oxf) 2010) 3 23
  4. Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. (PMID: 19903795) Dias R.P. … Clark A.J. (Eur. J. Endocrinol. 2010) 3 23
  5. Role of asparagine-linked glycosylation in cell surface expression and function of the human adrenocorticotropin receptor (melanocortin 2 receptor) in 293/FRT cells. (PMID: 20022931) Roy S. … Gallo-Payet N. (Endocrinology 2010) 3 23

Products for MC2R Gene

Sources for MC2R Gene

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