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MC2R Gene

protein-coding   GIFtS: 66
GCID: GC18M013874

Melanocortin 2 Receptor (Adrenocorticotropic Hormone)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Melanocortin 2 Receptor (Adrenocorticotropic Hormone)1 2     Corticotropin Receptor2
Adrenocorticotropin Receptor2 3     MC2 Receptor2
ACTHR2 3     ACTH-R3
ACTH Receptor2 3     MC2-R3
Adrenocorticotropic Hormone Receptor2     Melanocortin Receptor 23

External Ids:    HGNC: 69301   Entrez Gene: 41582   Ensembl: ENSG000001852317   OMIM: 6073975   UniProtKB: Q017183   

Export aliases for MC2R gene to outside databases

Previous GC identifer: GC18M013963


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. (provided by RefSeq, Jul 2008)

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 glucocorticoid deficiency 1. GO annotations related to this gene include corticotropin receptor activity and melanocortin receptor activity. An important paralog of this gene is CNR1.

UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718
Function: Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate
adenylate cyclase (cAMP)

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 (ACTH receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000018.10  NC_018929.2  NT_010859.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the MC2R gene promoter:
         AP-1   Nkx2-2   ATF-2   CREB   Max   deltaCREB   c-Jun   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMC2R promoter sequence
   Search Chromatin IP Primers for MC2R

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MC2R


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18p11.2   Ensembl cytogenetic band:  18p11.21   HGNC cytogenetic band: 18p11.2

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

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M013874:  view genomic region     (about GC identifiers)

Start:
13,882,043 bp from pter      End:
13,915,706 bp from pter
Size:
33,664 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718 (See protein sequence)
Recommended Name: Adrenocorticotropic hormone receptor  
Size: 297 amino acids; 33927 Da
Subunit: 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)
Secondary accessions: A8K016 Q3MI45 Q504X6

Explore the universe of human proteins at neXtProt for MC2R: NX_Q01718

Explore proteomics data for MC2R at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn12, Asn17
  • Modification sites at PhosphoSitePlus

  • See MC2R Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000520.1  
    ENSEMBL proteins: 
     ENSP00000333821   ENSP00000382718  
    Reactome Protein details: Q01718

    MC2R Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals MC2R Protein
    Novus Biologicals MC2R Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    MC2R Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MC2R
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    MC2R Assay Products:

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    GenScript MC2R-overexpressing Cell Line for Assay
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MCNR: GPCR / Class A : Melanocortin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: MC2 receptor
    Melanocortin receptors

    4 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR001671 Melcrt_ACTH_rcpt
     IPR000276 GPCR_Rhodpsn
     IPR001168 ACTH_rcpt

    Graphical View of Domain Structure for InterPro Entry Q01718

    ProtoNet protein and cluster: Q01718

    2 Blocks protein domains:
    IPB001168 Adrenocorticotrophin receptor signature
    IPB001671 Melanocortin receptor family signature


    UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718
    Similarity: Belongs to the G-protein coupled receptor 1 family


    MC2R for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACTHR_HUMAN, Q01718
    Function: Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate
    adenylate cyclase (cAMP)

         Genatlas biochemistry entry for MC2R:
    melanocortin receptor 2,expressed in melanocytes adrenal cortex,G protein coupled receptor superfamily,with a loss
    of heterozygosity (LOH) in adrenocortical carcinoma

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0004977melanocortin receptor activity TAS1325670
    GO:0004978corticotropin receptor activity IEA--
    GO:0005515protein binding IPI19329486
         
    MC2R for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MC2R:
     Decreased Hepatitis C virus re  Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mc2r):
     adipose tissue  behavior/neurological  cardiovascular system  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  nervous system 

    MC2R for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mc2rtm1Dchi for MC2R

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MC2R
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MC2R

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MC2R
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MC2R

    miRNA
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    Block miRNA regulation of human, mouse, rat MC2R using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MC2R:
    hsa-miR-188-3p hsa-miR-630
    SwitchGear 3'UTR luciferase reporter plasmidMC2R 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MC2R
    Predesigned siRNA for gene silencing in human, mouse, rat MC2R

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for MC2R (see all 5)
    OriGene ORF clones in mouse, rat for MC2R
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MC2R (NM_000529)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MC2R
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MC2R

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MC2R


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACTHR_HUMAN, Q01718: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9175632
    GO:0016021integral component of membrane ----

    MC2R for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MC2R About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.43
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    Peptide ligand-binding receptors0.60
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Neuropeptides signaling through G protein alpha i and G protein alpha q
    Peptide GPCRs0.46
    4Selected targets of CREB1
    Selected targets of CREB1
    5G alpha (s) signalling events
    G alpha (s) signalling events

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for MC2R
        GPCRs, Class A Rhodopsin-like
    Peptide GPCRs

    2 Reactome Pathways for MC2R
        Peptide ligand-binding receptors
    G alpha (s) signalling events


    1 Kegg Pathway  (Kegg details for MC2R):
        Neuroactive ligand-receptor interaction


    MC2R for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MC2R: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Neurotrophins & Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MC2R

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MC2R (Q017183 ENSP000003338214) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MGRN1O602913, ENSP000002623704I2D: score=1 STRING: ENSP00000262370
    MRAPQ8TCY53, ENSP000003066974I2D: score=2 STRING: ENSP00000306697
    POMCP011893, ENSP000002647084I2D: score=2 STRING: ENSP00000264708
    ASIPP421273, ENSP000003640924I2D: score=1 STRING: ENSP00000364092
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001890placenta development IEA--
    GO:0007186G-protein coupled receptor signaling pathway TAS1325670
    GO:0007187G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS9175632
    GO:0007218neuropeptide signaling pathway TAS9175632
    GO:0030819positive regulation of cAMP biosynthetic process IDA19329486

    MC2R for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for MC2R available from Tocris Bioscience    About this table
    CompoundAction CAS #
    [D-Trp8]-gamma-MSHSelective MC3 receptor agonist[321351-81-9]
    PG 106Selective MC3 receptor antagonist[944111-22-2]
    alpha-MSHEndogenous melanocortin receptor agonist[581-05-5]
    SHU 9119 MC3 and MC4 antagonist, MC5 partial agonist [168482-23-3]
    HS 014Selective MC4 receptor antagonist[207678-81-7]

    2 DrugBank Compounds for MC2R    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CorticotropinACTH (see all 5)9002-60-2targetagonist17185906 17636172 16478774 17584128 17223989
    Cosyntropin-- 16960-16-0targetantagonist2156274 20562554 11752352 15710205

    3 IUPHAR Ligands for MC2R (MC2 receptor)    About this table
    LigandTypeActionAffinityPubmed IDs
    ACTH-(11-24)
    AntagonistAntagonist98754753
    ASIP [90-132 (L89Y)]
    AntagonistInverse agonist7.311705773
    [125I]ACTH-(1?ao24)
    NoneNone7.3--

    Selected Novoseek inferred chemical compound relationships for MC2R gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acth 93.4 619 8550775 (13), 11420487 (7), 14671214 (7), 9167964 (7) (see all 99)
    acth 1-24 75.5 10 8550775 (5), 9196605 (1), 9141522 (1), 18492762 (1) (see all 5)
    cpas 68.1 4 9582497 (2)
    aminoglutethimide 60.7 17 9795339 (7), 11281374 (2)
    3beta-hydroxysteroid 56.5 4 11241179 (1), 7895901 (1)
    adenylate 53.9 12 2154973 (1), 8697804 (1), 10424898 (1), 1320052 (1) (see all 10)
    forskolin 51.8 12 8961279 (4), 8550775 (2), 17712720 (1), 9141522 (1) (see all 5)
    steroid 51.1 8 10720064 (2), 15919738 (1), 18493136 (1), 9795339 (1) (see all 5)
    metyrapone 46.3 1 9795339 (1)
    ribonucleic acid 41.8 6 9284742 (1), 15004405 (1), 9141522 (1), 10720064 (1)



    MC2R for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MC2R gene: 
    NM_000529.2  

    Unigene Cluster for MC2R:

    Melanocortin 2 receptor (adrenocorticotropic hormone)
    Hs.248144  [show with all ESTs]
    Unigene Representative Sequence: NM_000529
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000327606(uc002ksp.1) ENST00000399821(uc021uhs.1)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat MC2R

    Additional mRNA sequence: 

    AK289381.1 AK315319.1 BC069074.1 BC094710.1 BC104169.1 BC104170.1 Y10259.1 

    1 DOTS entry:

    DT.91668476 

    4 AceView cDNA sequences:

    BC069074 NM_000529 CF147776 Y10259 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MC2R expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACTGTTGT
    MC2R Expression
    About this image


    MC2R expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Adrenal Gland (Endocrine System)
    MC2R Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MC2R Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.248144

    UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718
    Tissue specificity: Melanocytes and corticoadrenal tissue

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MC2R: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Neurotrophins & Receptors in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MC2R
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MC2R
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    QuantiFast Probe-based Assays in human, mouse, rat MC2R
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MC2R

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MC2R gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mc2r1 , 5 melanocortin 2 receptor1, 5 84.46(n)1
    88.85(a)1
      18 (41.89 cM)5
    172001  NM_001271716.11  NP_001258645.11 
     684069075 
    chicken
    (Gallus gallus)
    Aves MC2R1 melanocortin 2 receptor (adrenocorticotropic hormone) 67.92(n)
    70.21(a)
      428516  NM_001031515.1  NP_001026686.1 
    lizard
    (Anolis carolinensis)
    Reptilia MC2R6
    melanocortin 2 receptor (adrenocorticotropic hormo...
    60(a)
    1 ↔ 1
    4(43439047-43440787)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004913301 adrenocorticotropic hormone receptor-like 61.87(n)
    62.11(a)
      100491330  XM_002936072.2  XP_002936118.2 
    zebrafish
    (Danio rerio)
    Actinopterygii mc2r1 melanocortin 2 receptor 56.44(n)
    50.9(a)
      353152  NM_180971.1  NP_851302.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MC2R gene
    CNR12  GPR122  LPAR22  S1PR12  CNR22  S1PR32  S1PR22  LPAR12  
    MC1R2  MC3R2  GPR32  MC5R2  MC4R2  S1PR42  GPR62  LPAR32  
    S1PR52  
    5 SIMAP similar genes for MC2R using alignment to 2 protein entries:     ACTHR_HUMAN (see all proteins):
    LOC441453    MC3R    MC4R    MC5R    MC1R

    MC2R for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MC2R (see all 1016)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289408921,2,,4
    CGlucocorticoid deficiency 1 (GCCD1)4 pathogenic113872279(-) CTGCTA/GCATGT 2 Y C mis1 ese30--------
    VAR_0107024
    Glucocorticoid deficiency 1 (GCCD1)4--see VAR_0107022 D N mis40--------
    VAR_0035124
    Glucocorticoid deficiency 1 (GCCD1)4--see VAR_0035122 R C mis40--------
    VAR_0107034
    Glucocorticoid deficiency 1 (GCCD1)4--see VAR_0107032 R W mis40--------
    VAR_0035134
    Glucocorticoid deficiency 1 (GCCD1)4--see VAR_0035132 R H mis40--------
    VAR_0150954
    Glucocorticoid deficiency 1 (GCCD1)4--see VAR_0150952 D N mis40--------
    VAR_0035104
    Glucocorticoid deficiency 1 (GCCD1)4--see VAR_0035102 S I mis40--------
    VAR_0150964
    Glucocorticoid deficiency 1 (GCCD1)4--see VAR_0150962 C F mis40--------
    VAR_0035114
    Glucocorticoid deficiency 1 (GCCD1)4--see VAR_0035112 S R mis40--------
    rs1048946621,2
    Cpathogenic113872288(-) CTACTG/TCGCCT 2 C F mis10--------

    HapMap Linkage Disequilibrium report for MC2R (13882043 - 13915706 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MC2R:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666033CNV Deletion23128226
    esv2224461CNV Deletion18987734
    esv2716827CNV Deletion23290073
    esv989455CNV Deletion20482838
    esv1935496CNV Deletion18987734
    esv2716825CNV Deletion23290073
    dgv492e201CNV Deletion23290073
    nsv909414CNV Gain21882294

    Human Gene Mutation Database (HGMD): MC2R
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MC2R
    DNA2.0 Custom Variant and Variant Library Synthesis for MC2R

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607397   
    OMIM disorders: 202200  
    UniProtKB/Swiss-Prot: ACTHR_HUMAN, Q01718
  • 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. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • Selected diseases for MC2R (see all 37):    
    About MalaCards
    glucocorticoid deficiency, due to acth unresponsiveness    glucocorticoid deficiency 1    familial glucocorticoid deficiency    triple-a syndrome
    somatoform disorder    achalasia    cushing's syndrome    addison's disease
    adrenal adenoma    21-hydroxylase deficiency    congenital adrenal hyperplasia    alopecia areata
    obesity, association with    autosomal recessive disease    adrenocortical carcinoma    congestive heart failure
    morbid obesity    alopecia    adenoma    major depressive disorder

    2 diseases from the University of Copenhagen DISEASES database for MC2R:
    Autosomal recessive disease     Achalasia

    MC2R for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MC2R gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acth resistance 96.5 15 18426811 (2), 17161331 (1), 18407210 (1), 17128564 (1) (see all 10)
    allgrove syndrome 86.1 6 18426811 (1), 1850671 (1), 18407210 (1), 11701718 (1)
    adrenocortical cancer 80.7 3 7883845 (1)
    carcinoma adrenocortical 78.1 7 15879363 (1), 9582497 (1), 8187950 (1), 9795339 (1) (see all 5)
    adrenal tumor 73.3 9 9167964 (2), 9284742 (1), 12727943 (1), 11248736 (1) (see all 6)
    adrenal adenoma 71.5 1 15879363 (1)
    cushing syndrome 71.1 6 11420487 (2), 12456795 (1)
    adenoma adrenocortical 70.8 4 11420487 (1), 10216530 (1), 11004727 (1)
    adenoma 60.4 25 11420487 (7), 9582497 (2), 9888585 (2), 14671214 (2) (see all 11)
    adrenal disease 58.4 2 9167964 (2)

    Genatlas disease: MC2R
    Addison disease with ACTH resistant adrenal insufficiency and glucocorticoid deficiency,characterized by failure
    to thrive,weakness and fatigue or adrenal crisis

    Genetic Association Database (GAD): MC2R
    Human Genome Epidemiology (HuGE) Navigator: MC2R (17 documents)

    Export disorders for MC2R gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MC2R gene, integrated from 10 sources (see all 250):
    (articles sorted by number of sources associating them with MC2R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. (PubMed id 8227361)1, 2, 4 Tsigos C.... Chrousos G.P. (J. Clin. Invest. 1993)
    2. Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. (PubMed id 17223989)1, 7, 9 Lin L....Achermann J.C. (Clin. Endocrinol. (Oxf) 2007)
    3. Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. (PubMed id 12213892)1, 2, 9 Fluck C.E.... Miller W.L. (J. Clin. Endocrinol. Metab. 2002)
    4. Association of polymorphisms in the melanocortin receptor type 2 (MC2R, ACTH receptor) gene with heroin addiction. (PubMed id 18359160)1, 4, 9 Proudnikov D....Kreek M.J. (Neurosci. Lett. 2008)
    5. Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. (PubMed id 19903795)1, 4, 9 Dias R.P....Clark A.J. (Eur. J. Endocrinol. 2010)
    6. Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms. (PubMed id 19024088)1, 4, 9 Liu Z.L....Zou L.P. (Chin. Med. J. 2008)
    7. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. (PubMed id 15654338)1, 2, 9 Metherell L.A.... Clark A.J.L. (Nat. Genet. 2005)
    8. Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. (PubMed id 19558534)1, 4, 9 Chung T.T....Clark A.J. (Clin. Endocrinol. (Oxf) 2010)
    9. ACTH receptor promoter polymorphism associates with severity of premature adrenarche and modulates hypothalamo-pituitary-adrenal axis in children. (PubMed id 18356748)1, 4, 9 Lappalainen S....JAoAoskelAoinen J. (Pediatr. Res. 2008)
    10. Characterization of an adrenocorticotropin (ACTH) receptor promoter polymorphism leading to decreased adrenal responsiveness to ACTH. (PubMed id 15240582)1, 4, 9 Slawik M....Beuschlein F. (J. Clin. Endocrinol. Metab. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4158 HGNC: 6930 AceView: MC2R Ensembl:ENSG00000185231 euGenes: HUgn4158
    ECgene: MC2R Kegg: 4158 H-InvDB: MC2R

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MC2R Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MC2R[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MC2R gene:
    Search GeneIP for patents involving MC2R

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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