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Aliases for MC2R Gene

Aliases for MC2R Gene

  • Melanocortin 2 Receptor 2 3 5
  • Melanocortin 2 Receptor (Adrenocorticotropic Hormone) 2 3
  • Adrenocorticotropic Hormone Receptor 2 3
  • Adrenocorticotropin Receptor 3 4
  • ACTH Receptor 3 4
  • ACTHR 3 4
  • 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
  • GC18M013955
  • GC18M014034
  • GC18M014109
  • GC18M014401
  • GC18M014693

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 1 and Familial Glucocorticoid Deficiency. Among its related pathways are Aldosterone synthesis and secretion and Peptide ligand-binding receptors. Gene Ontology (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

Additional gene information for MC2R Gene

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

Genomics for MC2R Gene

GeneHancer (GH) Regulatory Elements for MC2R Gene

Promoters and enhancers for MC2R Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I013915 Promoter/Enhancer 0.7 EPDnew ENCODE 571.9 -0.4 -386 1.6 MC2R CEP192 GC18M015410
GH18I013893 Enhancer 0.7 FANTOM5 15 +22.1 22097 0.2 BATF IRF4 RELA ZNF143 ETV6 BCLAF1 IKZF2 RUNX3 JUNB DPF2 MC2R RPL36AP49 MC5R GC18M015411 GC18P013909
GH18I013890 Enhancer 0.3 FANTOM5 0.3 +25.2 25202 0.2 MNT MC5R GC18M015411 GC18P013909 MC2R
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MC2R on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MC2R gene promoter:

Genomic Locations for MC2R Gene

Genomic Locations for MC2R Gene
chr18:13,882,044-13,915,707
(GRCh38/hg38)
Size:
33,664 bases
Orientation:
Minus strand
chr18:13,882,043-13,915,706
(GRCh37/hg19)

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

Post-translational modifications for MC2R Gene

  • Glycosylation at isoforms=12 and isoforms=17
  • Modification sites at PhosphoSitePlus

Other Protein References for MC2R Gene

No data available for DME Specific Peptides for MC2R Gene

Domains & Families for MC2R Gene

Gene Families for MC2R Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Transporters

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).

Phenotypes From GWAS Catalog for MC2R Gene

Gene Ontology (GO) - Molecular Function for MC2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004977 melanocortin receptor activity TAS,IEA 1325670
GO:0004978 corticotropin receptor activity IEA --
GO:0005515 protein binding IPI 18077336
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

Clone Products

  • Addgene plasmids for MC2R
  • R&D Systems cDNA Clones for MC2R (Melanocortin-2 R/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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MC2R gene
Compartment Confidence
plasma membrane 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MC2R: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MC2R Gene

Pathways & Interactions for MC2R Gene

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

Gene Ontology (GO) - Biological Process for MC2R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001890 placenta development IEA --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS,IEA --
GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS 9175632
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway IDA 19329486
genes like me logo Genes that share ontologies with MC2R: view

No data available for SIGNOR curated interactions for MC2R Gene

Drugs & Compounds for MC2R Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Corticotropin Approved, Investigational, Vet_approved Pharma Target, agonist 0
Cosyntropin Approved Pharma Target, antagonist 31
ACTH-(11-24) Pharma Antagonist 0
ASIP [90-132 (L89Y)] Pharma Inverse agonist, Antagonist 0
ACTH (1-39) Pharma 0

(11) Additional Compounds for MC2R Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>125</sup>I]ACTH-(1?ao24)

(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
Melanocyte-stimulating hormone release inhibiting factor Inhibitor of alpha-MSH release; inhibits opioid effects in vivo 2002-44-0
Melanotan II High affinity melanocortin receptor agonist 121062-08-6
THIQ Potent and selective MC4 receptor agonist 312637-48-2

(1) ApexBio Compounds for MC2R Gene

Compound Action Cas Number
ACTH (1-39) 12279-41-3
genes like me logo Genes that share compounds with MC2R: view

Drug Products

Transcripts for MC2R Gene

mRNA/cDNA for MC2R Gene

(3) 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:

Clone Products

  • Addgene plasmids for MC2R
  • R&D Systems cDNA Clones for MC2R (Melanocortin-2 R/MC2R)

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for MC2R Gene

NURSA nuclear receptor signaling pathways regulating expression of MC2R Gene:

MC2R

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.

Evidence on tissue expression from TISSUES for MC2R Gene

  • Adrenal gland(4.7)
  • Skin(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MC2R Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns 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 33 34
  • 99.21 (n)
dog
(Canis familiaris)
Mammalia MC2R 33 34
  • 87.23 (n)
rat
(Rattus norvegicus)
Mammalia Mc2r 33
  • 85.59 (n)
cow
(Bos Taurus)
Mammalia MC2R 33 34
  • 85.36 (n)
mouse
(Mus musculus)
Mammalia Mc2r 33 16 34
  • 84.46 (n)
oppossum
(Monodelphis domestica)
Mammalia MC2R 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MC2R 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves MC2R 33 34
  • 67.92 (n)
lizard
(Anolis carolinensis)
Reptilia MC2R 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491330 33
  • 61.87 (n)
zebrafish
(Danio rerio)
Actinopterygii mc2r 33 34
  • 56.44 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 18 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
Species where no ortholog for MC2R was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs104894656 pathogenic, ACTH resistance, Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] 13,885,159(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs104894657 pathogenic, ACTH resistance, Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] 13,885,137(-) G/A coding_sequence_variant, missense_variant
rs104894658 pathogenic, ACTH resistance, Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] 13,885,298(-) C/A coding_sequence_variant, missense_variant
rs104894659 pathogenic, ACTH resistance 13,884,918(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs104894660 pathogenic, ACTH resistance, Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] 13,885,110(-) G/A/T coding_sequence_variant, missense_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv451e201 CNV deletion 23290073
esv1935496 CNV deletion 18987734
esv2224461 CNV deletion 18987734
esv2666033 CNV deletion 23128226
esv2716825 CNV deletion 23290073
esv2716827 CNV deletion 23290073
esv3555091 CNV deletion 23714750
esv3582981 CNV loss 25503493
esv989455 CNV deletion 20482838
nsv1066142 CNV loss 25217958
nsv576529 CNV gain 21841781

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)

Additional Variant Information for MC2R Gene

Human Gene Mutation Database (HGMD)
MC2R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MC2R

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- 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

Additional Disease Information for MC2R

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MC2R: view

Publications for MC2R Gene

  1. Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. (PMID: 19558534) Chung TT … Clark AJ (Clinical endocrinology 2010) 3 22 44 58
  2. 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 RP … Clark AJ (European journal of endocrinology 2010) 3 22 44 58
  3. ACTH receptor promoter polymorphism associates with severity of premature adrenarche and modulates hypothalamo-pituitary-adrenal axis in children. (PMID: 18356748) Lappalainen S … Jääskeläinen J (Pediatric research 2008) 3 22 44 58
  4. Association of polymorphisms in the melanocortin receptor type 2 (MC2R, ACTH receptor) gene with heroin addiction. (PMID: 18359160) Proudnikov D … Kreek MJ (Neuroscience letters 2008) 3 22 44 58
  5. Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms. (PMID: 19024088) Liu ZL … Zou LP (Chinese medical journal 2008) 3 22 44 58

Products for MC2R Gene

  • Addgene plasmids for MC2R

Sources for MC2R Gene

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