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    MC2R melanocortin 2 receptor (adrenocorticotropic hormone) [ Homo sapiens ]

    Gene ID: 4158, updated on 20-May-2012
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    Summary

    Official Symbol
    MC2Rprovided by HGNC
    Official Full Name
    melanocortin 2 receptor (adrenocorticotropic hormone)provided by HGNC
    Primary source
    HGNC:6930
    See related
    Ensembl:ENSG00000185231; HPRD:06304; MIM:607397
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACTHR; MGC125798
    Summary
    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. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    18p11.2
    Sequence :
    Chromosome: 18; NC_000018.9 (13882043..13915535, complement)
    See MC2R in Epigenomics, MapViewer

    Chromosome 18 - NC_000018.9Genomic Context describing neighboring genes Neighboring gene RNA (guanine-7-) methyltransferase Neighboring gene melanocortin 5 receptor Neighboring gene ribosomal protein L36a pseudogene 49 Neighboring gene non-SMC element 4 homolog A (S. cerevisiae) pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Mechanisms of melanocortin-2 receptor (MC2R) internalization and recycling in human embryonic kidney (hek) cells: identification of Key Ser/Thr (S/T) amino acids. Roy S, et al. Mol Endocrinol, 2011 Nov. PMID 21920850.
    2. The E3 ubiquitin ligase Mahogunin ubiquitinates the melanocortin 2 receptor. Cooray SN, et al. Endocrinology, 2011 Nov. PMID 21862608.
    3. Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R): genotype and phenotype correlations. al Kandari HM, et al. Horm Res Paediatr, 2011. PMID 21778684.
    4. Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland. Gorrigan RJ, et al. J Mol Endocrinol, 2011 Jun. PMID 21367968.
    5. Use of chimeric melanocortin-2 and -4 receptors to identify regions responsible for ligand specificity and dependence on melanocortin 2 receptor accessory protein. Hinkle PM, et al. Eur J Pharmacol, 2011 Jun 11. PMID 21211532.

    See all (68) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Intracellular Ser and Thr (S/T) residues of MC2R were found to play important roles not only in plasma membrane targeting and function but also in promoting receptor internalization.
      Title: Mechanisms of melanocortin-2 receptor (MC2R) internalization and recycling in human embryonic kidney (hek) cells: identification of Key Ser/Thr (S/T) amino acids.
    2. Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R).
      Title: Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R): genotype and phenotype correlations.
    3. The MC2R/MRAP2 complex requires much higher concentrations of ACTH to activate compared with the MC2R/MRAP complex.
      Title: Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland.
    4. C-terminal tail of the MC(4) receptor with the corresponding regions from the MC(2) receptor resulted in MRAP-dependent signaling
      Title: Use of chimeric melanocortin-2 and -4 receptors to identify regions responsible for ligand specificity and dependence on melanocortin 2 receptor accessory protein.
    5. ACTH binding to MC2R stimulates PKA-dependent p44/p42(mapk) phosphorylation.
      Title: Adrenocorticotropin hormone (ACTH) effects on MAPK phosphorylation in human fasciculata cells and in embryonic kidney 293 cells expressing human melanocortin 2 receptor (MC2R) and MC2R accessory protein (MRAP)β.
    6. MC2R expression is aberrant in alopecia areata (AA). A deficit in ACTH/MC2R activity may play an important role in the pathophysiology of AA.
      Title: Melanocortin receptor type 2 (MC2R, ACTH receptor) expression in patients with alopecia areata.
    7. Loss of the C terminus of MC2R impairs cell surface expression and ACTH sensitivity but does not disrupt interaction of MC2R with melanocortin receptor accessory protein.
      Title: Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity.
    8. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
    9. Data show that tall stature is associated with mutations in MC2R but not in MRAP.
      Title: Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
    10. Includes the study of a polymorphic upstream ORF in this gene, and shows that it functions to reduce protein levels by ~37%.
      Title: Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.
    Submit: New GeneRIF Correction See all (41)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Glucocorticoid deficiency, due to ACTH unresponsiveness

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q01718 P42127 ASIP    HPRD  PubMed  
    Q01718 P01189 POMC    HPRD  PubMed  
    BioGRID:110328 BioGRID:116890 MGRN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110328 BioGRID:121114 MRAP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110328 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
    • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
      GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Peptide GPCRs, organism-specific biosystem (from WikiPathways)
      Peptide GPCRs, organism-specific biosystem
      Peptide GPCRs
    • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    corticotropin receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    melanocortin receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transducer activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    G-protein signaling, coupled to cyclic nucleotide second messenger TAS
    Traceable Author Statement
    more info
    		 PubMed 
    positive regulation of cAMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    adrenocorticotropic hormone receptor
    Names
    adrenocorticotropic hormone receptor
    MC2 receptor
    ACTH receptor
    corticotropin receptor
    adrenocorticotropin receptor
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011819.1 RefSeqGene

      Range
      5001..38493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000529.2 → NP_000520.1  adrenocorticotropic hormone receptor

      Status: REVIEWED

      Source sequence(s)
      AP001086, BC094710
      Consensus CDS
      CCDS11869.1
      UniProtKB/TrEMBL
      A8K016
      UniProtKB/Swiss-Prot
      Q01718
      Related
      ENSP00000333821, ENST00000327606
      Conserved Domains (2) summary
      pfam00001
      Location:47 – 276
      Blast Score: 262
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl10458
      Location:35 – 290
      Blast Score: 120
      7tm_4; Olfactory receptor

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000018.9 Reference GRCh37.p5 Primary Assembly

      Range
      13882043..13915535, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000150.1 Alternate HuRef

      Range
      13835653..13869147, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB065915.1 BAC06130.1
    genomic AP001086.7 (59700..62223) None
    genomic AY225229.1 AAO67714.1
    genomic CH471113.2 EAX01503.1
    genomic X65633.1 CAA46587.1
    mRNA AK289381.1 BAF82070.1
    mRNA AK315319.1 BAG37722.1
    mRNA BC069074.1 AAH69074.1
    mRNA BC094710.1 AAH94710.1
    mRNA BC104169.1 AAI04170.1
    mRNA BC104170.1 AAI04171.1
    mRNA Y10259.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01718.1 GenPept UniProtKB/Swiss-Prot:Q01718
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

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