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MC3R Gene

protein-coding   GIFtS: 64
GCID: GC20P054823

Melanocortin 3 Receptor

  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 3 Receptor1 2     OB202
MC3-R2 3     OQTL2
BMIQ92 5     Melanocortin Receptor 32
MC32     Obesity Quantitative Trait Locus2

External Ids:    HGNC: 69311   Entrez Gene: 41592   Ensembl: ENSG000001240897   OMIM: 1555405   UniProtKB: P419683   

Export aliases for MC3R gene to outside databases

Previous GC identifers: GC20P054552 GC20P055462 GC20P055509 GC20P054257 GC20P051605


(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 MC3R Gene:
This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone
that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as
the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased
food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this
gene are associated with a susceptibility to obesity in humans. (provided by RefSeq, Jul 2008)

GeneCards Summary for MC3R Gene:
MC3R (melanocortin 3 receptor) is a protein-coding gene. Diseases associated with MC3R include obesity, susceptibility to, mc3r-related, and tricuspid valve insufficiency. GO annotations related to this gene include peptide hormone binding and melanocortin receptor activity. An important paralog of this gene is CNR1.

UniProtKB/Swiss-Prot: MC3R_HUMAN, P41968
Function: Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which
activate adenylate cyclase

summary for MC3R 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 MC3R (Melanocortin 3 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_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the MC3R gene promoter:
         AML1a   NRSF form 1   NRSF form 2   Arnt   C/EBPalpha   CHOP-10   AREB6   POU2F1   POU2F1a   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMC3R promoter sequence
   Search Chromatin IP Primers for MC3R

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MC3R


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

Entrez Gene cytogenetic band: 20q13.2-q13.3   Ensembl cytogenetic band:  20q13.2   HGNC cytogenetic band: 20q13.2-q13.3

MC3R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MC3R gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P054823:  view genomic region     (about GC identifiers)

Start:
54,823,788 bp from pter      End:
54,824,871 bp from pter
Size:
1,084 bases      Orientation:
plus 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: MC3R_HUMAN, P41968 (See protein sequence)
Recommended Name: Melanocortin receptor 3  
Size: 323 amino acids; 36043 Da
Sequence caution: Sequence=AAC13541.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH69105.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH69599.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH96702.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=AAH96737.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=AAH98169.1; Type=Erroneous initiation; Note=Translation
N-terminally shortened; Sequence=AAH98351.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAO72726.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q4KN27 Q9H517

Explore the universe of human proteins at neXtProt for MC3R: NX_P41968

Explore proteomics data for MC3R at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn2, Asn16, Asn28

  • See MC3R Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_063941.3  
    ENSEMBL proteins: 
     ENSP00000243911  
    Reactome Protein details: P41968

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    (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: MC3 receptor
    Melanocortin receptors

    5 InterPro protein domains:
     IPR002122 Mcort_3_rcpt
     IPR017452 GPCR_Rhodpsn_7TM
     IPR001671 Melcrt_ACTH_rcpt
     IPR000276 GPCR_Rhodpsn
     IPR001908 Melancort_rcpt

    Graphical View of Domain Structure for InterPro Entry P41968

    ProtoNet protein and cluster: P41968

    3 Blocks protein domains:
    IPB001671 Melanocortin receptor family signature
    IPB001908 Melanocortin receptor signature
    IPB002122 Melanocortin 3 receptor signature


    UniProtKB/Swiss-Prot: MC3R_HUMAN, P41968
    Similarity: Belongs to the G-protein coupled receptor 1 family


    MC3R 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: MC3R_HUMAN, P41968
    Function: Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which
    activate adenylate cyclase

         Genatlas biochemistry entry for MC3R:
    melanocortin receptor 3,expressed in brain,placenta and intestinal tissues,G protein coupled receptor superfamily

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0004977melanocortin receptor activity TAS8175743
    GO:0004980melanocyte-stimulating hormone receptor activity IPI19743876
    GO:0005515protein binding IPI19329486
    GO:0017046peptide hormone binding IEA--
         
    MC3R for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MC3R:
     Increased gamma-H2AX phosphory  Low eccentricity cells 

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mc3r):
     adipose tissue  behavior/neurological  growth/size/body  homeostasis/metabolism  immune system 
     limbs/digits/tail  skeleton 

    MC3R for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MC3R: Mc3rtm1Cone Mc3rtm1Lvp Mc3rtm1Lex

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MC3R
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MC3R
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MC3R

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    (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
    MC3R_HUMAN, P41968: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8463333
    GO:0016021integral component of membrane ----

    MC3R 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 MC3R About                                                                                                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
    4G alpha (s) signalling events
    G alpha (s) signalling events
    5Adenylate cyclase activating neuropeptides
    Adenylate cyclase activating neuropeptides

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for MC3R
        GPCRs, Class A Rhodopsin-like
    Peptide GPCRs

    2 Reactome Pathways for MC3R
        Peptide ligand-binding receptors
    G alpha (s) signalling events


    1 Kegg Pathway  (Kegg details for MC3R):
        Neuroactive ligand-receptor interaction


    MC3R for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MC3R: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Obesity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MC3R

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

    Selected Interacting proteins for MC3R (P419683 ENSP000002439114) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGRPO002533, ENSP000002909534I2D: score=1 STRING: ENSP00000290953
    ASIPP421273, ENSP000003640924I2D: score=1 STRING: ENSP00000364092
    POMCP011893, ENSP000002647084I2D: score=1 STRING: ENSP00000264708
    ADCY2ENSP000003429524STRING: ENSP00000342952
    ADCY4ENSP000003121264STRING: ENSP00000312126
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002027regulation of heart rate IEA--
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007187G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS8175743
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA--
    GO:0007200phospholipase C-activating G-protein coupled receptor signaling pathway TAS8175743

    MC3R 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 MC3R 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]

    Selected IUPHAR Ligands for MC3R (MC3 receptor) (see all 12)    About this table
    LigandTypeActionAffinityPubmed IDs
    PG-901
    AntagonistAntagonist9.712431055
    [125I]NDP-MSH
    AgonistFull agonist9.715840392
    SHU9119
    AntagonistAntagonist8.9 - 9.112007532 7658432 10657491
    NDP-MSH
    AgonistFull agonist8.910493100
    gamma-MSH
    AgonistFull agonist8.510358030
    alpha-MSH
    AgonistFull agonist8 - 8.410358030 10493100
    HS024
    AntagonistAntagonist8.39832440
    MT-II
    AgonistFull agonist8.310493100
    [D-Trp8]gamma-MSH
    AgonistFull agonist8.211150170
    agouti-related protein
    AntagonistInverse agonist7.79819197

    Selected Novoseek inferred chemical compound relationships for MC3R gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shu 9119 92.2 10 12851307 (1), 10657491 (1), 12505663 (1), 9751529 (1) (see all 8)
    alpha msh 78.9 4 16177130 (1), 9751529 (1), 11511108 (1)
    org-2766 75 1 7808440 (1)
    acth 68 20 12384937 (3), 19743876 (2), 8584883 (1), 11892914 (1) (see all 14)
    acth 4-10 67.3 1 9213373 (1)
    cyclic amp 20.9 1 10051117 (1)
    corticosterone 15.9 1 9605554 (1)
    proline 6.8 1 10405347 (1)
    glucose 0.188 3 17192297 (1), 12142547 (1), 11397906 (1)
    lipid 0 2 17192297 (1), 15202783 (1)



    MC3R 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 MC3R gene: 
    NM_019888.3  

    Unigene Cluster for MC3R:

    Melanocortin 3 receptor
    Hs.248018  [show with all ESTs]
    Unigene Representative Sequence: BC069105
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000243911(uc002xxb.2)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat MC3R

    Additional mRNA sequence: 

    AY227893.1 BC069105.1 BC069591.1 BC069599.1 BC096702.1 BC096737.1 BC098169.1 BC098351.1 

    1 DOTS entry:

    DT.102819981 

    5 AceView cDNA sequences:

    AY227893 BC069591 BC069599 NM_019888 BC069105 

    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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    MC3R expression in normal human tissues (normalized intensities)      MC3R embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTTGGGAT
    MC3R Expression
    About this image


    MC3R expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Thalamus
             Substantia Nigra   
    MC3R Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MC3R Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.248018

    UniProtKB/Swiss-Prot: MC3R_HUMAN, P41968
    Tissue specificity: Brain, placental, and gut tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MC3R: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Obesity in human mouse rat

    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MC3R

    (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 MC3R gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mc3r1 , 5 melanocortin 3 receptor1, 5 87.72(n)1
    88.85(a)1
      2 (94.80 cM)5
    172011  NM_008561.31  NP_032587.11 
     1722484925 
    chicken
    (Gallus gallus)
    Aves LOC1008571641 melanocortin receptor 3-like 74.45(n)
    76.95(a)
      100857164  XM_004947236.1  XP_004947293.1 
    lizard
    (Anolis carolinensis)
    Reptilia MC3R6
    melanocortin 3 receptor
    72(a)
    1 ↔ 1
    GL343217.1(2171326-2172213)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mc3r1 melanocortin 3 receptor 74.6(n)
    74.92(a)
      100496947  XM_002935390.2  XP_002935436.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mc3r1 melanocortin 3 receptor 70.15(n)
    75.08(a)
      353153  NM_180972.1  NP_851303.1 


    ENSEMBL Gene Tree for MC3R (if available)
    TreeFam Gene Tree for MC3R (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MC3R gene
    CNR12  GPR122  LPAR22  S1PR12  CNR22  S1PR32  S1PR22  LPAR12  
    MC1R2  MC5R2  MC2R2  GPR32  MC4R2  S1PR42  GPR62  LPAR32  
    S1PR52  
    6 SIMAP similar genes for MC3R using alignment to 1 protein entry:     MC3R_HUMAN:
    MC4R    LOC441453    MC5R    MC2R    MC1R    LPAR1

    MC3R 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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    MC3R_HUMAN, P41968: Genetic variations in MC3R define the body mass index quantitative trait locus 9 (BMIQ9)
    [MIM:602025]. Variance in body mass index is a susceptibility factor for obesity


    Selected SNPs for MC3R (see all 142)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743153931,2
    Cother154793895(+) CACCAA/TCTTTT 2 N I mis10--------
    rs1827841771,2
    --54791369(+) TACACA/GCACAT 1 -- us2k10--------
    rs1416328591,2
    --54791401(+) GATCAC/TTAATT 1 -- us2k10--------
    rs2015516341,2
    C--54791419(+) AATGT-/GCGTGTG 1 -- us2k10--------
    rs61235671,2
    C,F,A--54791420(+) AtgtgT/Cgtgtg 1 -- us2k14Minor allele frequency- C:0.43NA WA CSA 7
    rs356177521,2
    C--54791421(+) TGTGT-/GT/T  
            
    AGGGA
    1 -- us2k11NA 2
    rs60922761,2
    C,F,A,H--54791647(+) GTACAG/AGTGTT 1 -- us2k125Minor allele frequency- A:0.36NS EA NA WA CSA 2771
    rs1871437211,2
    --54791815(+) ACCCTC/TTGCCC 1 -- us2k10--------
    rs1404474591,2
    --54791821(+) TGCCCC/TGGACT 1 -- us2k10--------
    rs1427449631,2
    --54791919(+) CCCTAC/TCTATG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MC3R (54823788 - 54824871 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MC3R:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528431CNV Loss19592680

    Human Gene Mutation Database (HGMD): MC3R
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MC3R
    DNA2.0 Custom Variant and Variant Library Synthesis for MC3R

    (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: 155540   
    OMIM disorders: 602025  607948  
    Selected diseases for MC3R (see all 23):    About MalaCards
    obesity, susceptibility to, mc3r-related    tricuspid valve insufficiency    obesity, severe bmiq9    mycobacterium tuberculosis, protection against
    tuberculosis, protection against    morbid obesity    obesity, association with    anorexia nervosa
    sleep apnea    obesity    mucoepidermoid carcinoma    tuberculosis
    hyperinsulinism    autism spectrum disorder    cushing's syndrome    insulin resistance
    atopic dermatitis    dermatitis    diabetes mellitus    arthritis

    1 disease from the University of Copenhagen DISEASES database for MC3R:
    Morbid obesity

    MC3R for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for MC3R gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 63 47 19091795 (4), 11889220 (2), 18551113 (2), 17639020 (2) (see all 22)
    arthritis gouty 56.5 3 12384937 (2)
    obesity morbid 47.5 2 12532156 (2)
    hyperinsulinemia 29.4 1 15636422 (1)
    insulin sensitivity 20.8 1 11889220 (1)
    insulin resistance 12.4 2 15202783 (1), 18180070 (1)
    anorexia nervosa 7.61 1 16314751 (1)
    inflammation 0 3 18614155 (1), 10358199 (1)

    Genetic Association Database (GAD): MC3R
    Human Genome Epidemiology (HuGE) Navigator: MC3R (30 documents)

    Export disorders for MC3R 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 MC3R gene, integrated from 10 sources (see all 195):
    (articles sorted by number of sources associating them with MC3R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sporadic mutations in melanocortin receptor 3 in morbid obese individuals. (PubMed id 18231126)1, 2, 4, 9 Mencarelli M.... Di Blasio A.M. (Eur. J. Hum. Genet. 2008)
    2. A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity. (PubMed id 11889220)1, 2, 4, 9 Lee Y.-S.... Loke K.-Y. (J. Clin. Endocrinol. Metab. 2002)
    3. Molecular cloning of a novel melanocortin receptor. (PubMed id 8463333)1, 2, 3 Gantz I.... Yamada T. (J. Biol. Chem. 1993)
    4. Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. (PubMed id 19091795)1, 4, 9 Calton M.A....Vaisse C. (Hum. Mol. Genet. 2009)
    5. The role of melanocortin 3 receptor gene in childhood obesity. (PubMed id 17639020)1, 4, 9 Lee Y.S....Loke K.Y. (Diabetes 2007)
    6. Co-occurrence of two partially inactivating polymorphisms of MC3R is associated with pediatric-onset obesity. (PubMed id 16123355)1, 4, 9 Feng N....Yanovski J.A. (Diabetes 2005)
    7. Melanocortin-3-receptor gene variants in morbid obesity. (PubMed id 12532156)1, 4, 9 Schalin-JAontti C....Kontula K. (Int. J. Obes. Relat. Metab. Disord. 2003)
    8. Single nucleotide polymorphisms of the melanocortin-3 receptor gene are associated with substrate oxidation and first-phase insulin secretion in offspring of type 2 diabetic subjects. (PubMed id 17192297)1, 4, 9 Rutanen J....Laakso M. (J. Clin. Endocrinol. Metab. 2007)
    9. Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation. (PubMed id 15292330)1, 2, 9 Tao Y.-X. and Segaloff D.L. (J. Clin. Endocrinol. Metab. 2004)
    10. Energy intake and energy expenditure among children with polymorphisms of the melanocortin-3 receptor. (PubMed id 19656839)1, 4, 9 Savastano D.M....Yanovski J.A. (Am. J. Clin. Nutr. 2009)

    (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: 4159 HGNC: 6931 AceView: MC3R Ensembl:ENSG00000124089 euGenes: HUgn4159
    ECgene: MC3R Kegg: 4159 H-InvDB: MC3R

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for MC3R Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MC3R gene:
    Search GeneIP for patents involving MC3R

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



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