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MC4R Gene

protein-coding   GIFtS: 65
GCID: GC18M058011

Melanocortin 4 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 4 Receptor1 2
MC4-R2 3
Melanocortin Receptor 42

External Ids:    HGNC: 69321   Entrez Gene: 41602   Ensembl: ENSG000001666037   OMIM: 1555415   UniProtKB: P322453   

Export aliases for MC4R gene to outside databases

Previous GC identifers: GC18M057869 GC18M056187 GC18M056189 GC18M054747


(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 MC4R Gene:
The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The
encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an
intronless gene. Defects in this gene are a cause of autosomal dominant obesity. (provided by RefSeq, Jan 2010)

GeneCards Summary for MC4R Gene:
MC4R (melanocortin 4 receptor) is a protein-coding gene. Diseases associated with MC4R include obesity, mc4r-related, and obesity, autosomal dominant. GO annotations related to this gene include neuropeptide binding and ubiquitin protein ligase binding. An important paralog of this gene is CNR1.

UniProtKB/Swiss-Prot: MC4R_HUMAN, P32245
Function: Receptor specific to the heptapeptide core common to adrenocorticotropic hormone and alpha-, beta-, and
gamma-MSH. Plays a central role in energy homeostasis and somatic growth. This receptor is mediated by G proteins
that stimulate adenylate cyclase (cAMP)

summary for MC4R 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 MC4R (Melanocortin 4 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_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the MC4R gene promoter:
         TBP   CREB   POU2F1   POU2F1a   deltaCREB   ARP-1   POU6F1 (c2)   Tal-1beta   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMC4R promoter sequence
   Search Chromatin IP Primers for MC4R

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MC4R


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

Entrez Gene cytogenetic band: 18q22   Ensembl cytogenetic band:  18q21.32   HGNC cytogenetic band: 18q22

MC4R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MC4R gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M058011:  view genomic region     (about GC identifiers)

Start:
58,038,564 bp from pter      End:
58,040,001 bp from pter
Size:
1,438 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: MC4R_HUMAN, P32245 (See protein sequence)
Recommended Name: Melanocortin receptor 4  
Size: 332 amino acids; 36943 Da
Subunit: Interacts with ATRNL1 (By similarity). Homodimer; disulfide-linked, also forms higher order oligomers.
Interacts with MGRN1, but does not undergo MGRN1-mediated ubiquitination; this interaction competes with
GNAS-binding and thus inhibits agonist-induced cAMP production. Interacts with MRAP and MRAP2; these associated
factors increase ligand-sensitivity and generation of cAMP
6 PDB 3D structures from and Proteopedia for MC4R:
2IQP (3D)        2IQR (3D)        2IQS (3D)        2IQU (3D)        2IQV (3D)        2IQW (3D)    
Secondary accessions: B2RAC3 Q16317 Q3MIJ6

Explore the universe of human proteins at neXtProt for MC4R: NX_P32245

Explore proteomics data for MC4R at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn3, Asn17, Asn26
  • Modification sites at PhosphoSitePlus

  • See MC4R Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005903.2  
    ENSEMBL proteins: 
     ENSP00000299766  
    Reactome Protein details: P32245

    MC4R Human Recombinant Protein Products:

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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: MC4 receptor
    Melanocortin receptors

    5 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR001671 Melcrt_ACTH_rcpt
     IPR000155 Mcort_rcpt_4
     IPR000276 GPCR_Rhodpsn
     IPR001908 Melancort_rcpt

    Graphical View of Domain Structure for InterPro Entry P32245

    ProtoNet protein and cluster: P32245

    4 Blocks protein domains:
    IPB000155 Melanocortin 4 receptor signature
    IPB000621 Melanocortin 5 receptor signature
    IPB001671 Melanocortin receptor family signature
    IPB001908 Melanocortin receptor signature


    UniProtKB/Swiss-Prot: MC4R_HUMAN, P32245
    Similarity: Belongs to the G-protein coupled receptor 1 family


    MC4R 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: MC4R_HUMAN, P32245
    Function: Receptor specific to the heptapeptide core common to adrenocorticotropic hormone and alpha-, beta-, and
    gamma-MSH. Plays a central role in energy homeostasis and somatic growth. This receptor is mediated by G proteins
    that stimulate adenylate cyclase (cAMP)

         Genatlas biochemistry entry for MC4R:
    melanocortin receptor 4,expressed in brain,placenta and intestinal tissue,G protein coupled receptor
    superfamily,involved in energy balance,but likely to be a minor contributor in obesity

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0004977melanocortin receptor activity TAS8794897
    GO:0004980melanocyte-stimulating hormone receptor activity IPI19743876
    GO:0005515protein binding IPI19329486
    GO:0017046peptide hormone binding IEA--
         
    MC4R for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Mc4r):
     adipose tissue  behavior/neurological  cardiovascular system  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  liver/biliary system  nervous system  normal 
     reproductive system  skeleton  tumorigenesis 

    MC4R for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MC4R: Mc4rtm1Lex Mc4rtm1Dhu Mc4rtm2.1Lowl

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MC4R
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MC4R

    miRNA
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    miRTarBase miRNAs that target MC4R:
    hsa-mir-877-5p (MIRT037223)

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MC4R


    (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
    MC4R_HUMAN, P32245: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus2
    cytosol1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--

    MC4R 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 MC4R 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
    4Syndecan-3-mediated signaling events
    Syndecan-3-mediated signaling events
    5G alpha (s) signalling events
    G alpha (s) signalling events

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for MC4R
        GPCRs, Class A Rhodopsin-like
    Syndecan-3-mediated signaling events
    Peptide GPCRs

    2 Reactome Pathways for MC4R
        Peptide ligand-binding receptors
    G alpha (s) signalling events


    1 Kegg Pathway  (Kegg details for MC4R):
        Neuroactive ligand-receptor interaction


    MC4R for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MC4R: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MC4R

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

    Selected Interacting proteins for MC4R (P322453 ENSP000002997664) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGRPO002533, ENSP000002909534I2D: score=2 STRING: ENSP00000290953
    MGRN1O602913, ENSP000002623704I2D: score=1 STRING: ENSP00000262370
    NPYP013033, ENSP000002421524I2D: score=1 STRING: ENSP00000242152
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    POMCP011893, ENSP000002647084I2D: score=2 STRING: ENSP00000264708
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002024diet induced thermogenesis IEA--
    GO:0006112energy reserve metabolic process IEA--
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway TAS8794897
    GO:0007631feeding behavior IEA--

    MC4R 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 MC4R 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 MC4R (MC4 receptor) (see all 15)    About this table
    LigandTypeActionAffinityPubmed IDs
    MCL0129
    AntagonistAntagonist10.112538838
    MBP10
    AntagonistAntagonist1011606131
    SHU9119
    AntagonistAntagonist9.4 - 9.610657491 10493100
    HS024
    AntagonistAntagonist9.59832440
    agouti-related protein
    AntagonistInverse agonist9.39299416
    [125I]SHU9119
    AntagonistAntagonist9.212604699
    [125I]NDP-MSH
    AgonistFull agonist8.4 - 8.97774675 15840392
    THIQ
    AgonistFull agonist8.912361385
    NDP-MSH
    AgonistFull agonist8.5 - 8.811101306 6777774 10493100
    MT-II
    AgonistFull agonist8.2 - 8.811101306 10493100 2535874

    Selected Novoseek inferred chemical compound relationships for MC4R gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shu 9119 87.5 17 12666176 (2), 9853124 (2), 15072565 (2), 12851307 (1) (see all 12)
    mb-243 86.4 1 15582434 (1)
    alpha msh 77.8 5 16166226 (2), 9751529 (1), 14709157 (1)
    acth 57.9 15 19743876 (2), 14694081 (2), 8584883 (1), 9605554 (1) (see all 9)
    piperidine 24.7 3 17768046 (1), 16697186 (1)
    tetrapeptide 18.6 1 20304640 (1)
    beta-alanine 17.3 2 14643322 (2)
    piperazine 17.2 2 15317471 (1)
    cocaine 14.6 10 12490616 (4), 15597110 (1), 15340100 (1), 17440766 (1)
    alanine 11.9 1 9454589 (1)



    MC4R 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 MC4R gene: 
    NM_005912.2  

    Unigene Cluster for MC4R:

    Melanocortin 4 receptor
    Hs.532833  [show with all ESTs]
    Unigene Representative Sequence: NM_005912
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000299766(uc002lie.1)
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      QuantiFast Probe-based Assays in human, mouse, rat MC4R

    Additional mRNA sequence: 

    AK314130.1 BC069172.1 BC101802.1 BC111992.1 

    1 DOTS entry:

    DT.91848835 

    2 AceView cDNA sequences:

    BC069172 NM_005912 

    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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    MC4R expression in normal human tissues (normalized intensities)      MC4R embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTAATTCAA
    MC4R Expression
    About this image


    MC4R 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
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Thalamus
             Septum   
     
     Neural Tube (Nervous System)
             Telencephalon
    MC4R Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MC4R Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532833

    UniProtKB/Swiss-Prot: MC4R_HUMAN, P32245
    Tissue specificity: Brain, placental, and gut tissues

        Pathway & Disease-focused RT2 Profiler PCR Array including MC4R: 
              G Protein Coupled Receptors 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MC4R

    (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 MC4R gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mc4r1 , 5 melanocortin 4 receptor1, 5 88.72(n)1
    94.26(a)1
      18 (39.72 cM)5
    172021  NM_016977.41  NP_058673.21 
     668577155 
    chicken
    (Gallus gallus)
    Aves MC4R1 melanocortin 4 receptor 80.49(n)
    87.8(a)
      428485  NM_001031514.1  NP_001026685.1 
    lizard
    (Anolis carolinensis)
    Reptilia MC4R6
    melanocortin 4 receptor
    86(a)
    1 ↔ 1
    GL343408.1(53304-54239)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mc4r1 melanocortin 4 receptor 70.9(n)
    74.92(a)
      100486677  XM_004915313.1  XP_004915370.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mc4r1 melanocortin 4 receptor 68.34(n)
    73.58(a)
      286833  NM_173278.1  NP_775385.1 


    ENSEMBL Gene Tree for MC4R (if available)
    TreeFam Gene Tree for MC4R (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MC4R gene
    CNR12  GPR122  LPAR22  S1PR12  CNR22  S1PR32  S1PR22  LPAR12  
    MC1R2  MC3R2  MC5R2  MC2R2  GPR32  S1PR42  GPR62  LPAR32  
    S1PR52  
    9 SIMAP similar genes for MC4R using alignment to 10 protein entries:     MC4R_HUMAN (see all proteins):
    LOC441453    MC3R    MC5R    MC1R    MC2R    LPAR1
    EDG2    HTR5A    CHRM2

    MC4R 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 MC4R (see all 181)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1871527531,2,,4
    CObesity (OBESITY)4 --57893048(+) AAAGAC/TGCCAA 2 I V mis10--------
    rs1219135601,2,,4
    C,FObesity (OBESITY)4 pathogenic157893297(-) TCATCA/GTAAGT 2 I V mis11Minor allele frequency- G:0.00NA 4550
    rs134473311,2,,4
    CObesity (OBESITY)4 pathogenic157893425(-) TGACTC/TGGTGA 2 S L mis13Minor allele frequency- T:0.00NA EU 1327
    rs134473251,2,,4
    C,FObesity (OBESITY)4 other157893695(-) CTCTGA/TTGGAG 2 D V mis13Minor allele frequency- T:0.00NA 4554
    VAR_0386364
    Obesity (OBESITY)4--see VAR_0386362 N S mis40--------
    VAR_0386394
    Obesity (OBESITY)4--see VAR_0386392 I S mis40--------
    VAR_0386344
    Obesity (OBESITY)4--see VAR_0386342 V M mis40--------
    VAR_0386324
    Obesity (OBESITY)4--see VAR_0386322 T A mis40--------
    VAR_0386534
    Obesity (OBESITY)4--see VAR_0386532 I S mis40--------
    VAR_0386424
    Obesity (OBESITY)4--see VAR_0386422 I K mis40--------

    HapMap Linkage Disequilibrium report for MC4R (58038564 - 58040001 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MC4R:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv458092CNV Loss19166990

    Human Gene Mutation Database (HGMD): MC4R
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MC4R
    DNA2.0 Custom Variant and Variant Library Synthesis for MC4R

    (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: 155541   
    OMIM disorders: 601665  
    UniProtKB/Swiss-Prot: MC4R_HUMAN, P32245
  • Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the
    limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for MC4R (see all 32):    About MalaCards
    obesity, mc4r-related    obesity, autosomal dominant    obesity, association with    eating disorder
    morbid obesity    hyperandrogenism    acth deficiency    obesity
    bulimia nervosa    anorexia nervosa    sleep apnea    hyperinsulinism
    attention deficit hyperactivity disorder    gout    autism spectrum disorder    polycystic ovary syndrome
    pertussis    insulin resistance    spinocerebellar ataxia    age related macular degeneration

    3 diseases from the University of Copenhagen DISEASES database for MC4R:
    Morbid obesity     Diabetes mellitus     Hyperinsulinism

    MC4R for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MC4R gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 83.2 440 10598807 (5), 16710097 (5), 16507637 (5), 19255736 (5) (see all 99)
    obesity morbid 56.9 7 10903341 (2), 17941900 (1), 10903343 (1), 10196693 (1) (see all 5)
    binge eating disorder 47.6 9 16030156 (5), 15585384 (1), 16094248 (1), 18777518 (1)
    acth deficiency 46.5 1 9620771 (1)
    binge eating 43.8 5 16507637 (2), 20305219 (1), 12646666 (1)
    genetic susceptibility 40 2 16083993 (1), 11397906 (1)
    hyperandrogenism 36.5 4 15533382 (2)
    hyperinsulinemia 30.3 6 18971258 (1), 15126516 (1), 10078568 (1), 19214805 (1)
    anorexia nervosa 29.5 1 10199800 (1)
    insulin resistance 21.1 13 18454146 (3), 19680233 (1), 19050674 (1), 11246450 (1) (see all 5)

    Genetic Association Database (GAD): MC4R
    Human Genome Epidemiology (HuGE) Navigator: MC4R (148 documents)

    Export disorders for MC4R 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 MC4R gene, integrated from 10 sources (see all 528):
    (articles sorted by number of sources associating them with MC4R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. (PubMed id 11487744)1, 2, 4, 9 Dubern B.... Tounian P. (J. Pediatr. 2001)
    2. Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. (PubMed id 15486053)1, 2, 4, 9 Larsen L.H....Pedersen O. (J. Clin. Endocrinol. Metab. 2005)
    3. Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese Finnish children and adults. (PubMed id 14764818)1, 2, 4, 9 Valli-Jaakola K.... Schalin-Jaentti C. (J. Clin. Endocrinol. Metab. 2004)
    4. Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. (PubMed id 10199800)1, 2, 4, 9 Hinney A.... Hebebrand J. (J. Clin. Endocrinol. Metab. 1999)
    5. [Prevalence of melanocortin 4 receptor (MC4R) mutations and polymorphismsin consecutively ascertained obese children and adolescents from a pediatric health care utilization population]. (PubMed id 16032553)1, 4, 9 Zakel U.A....Hinney A. (Klin Padiatr 2005)
    6. Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating. (PubMed id 16507637)1, 4, 9 Lubrano-Berthelier C....Vaisse C. (J. Clin. Endocrinol. Metab. 2006)
    7. Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis. (PubMed id 17579204)1, 4, 9 HainerovA! I....Pedersen O. (J. Clin. Endocrinol. Metab. 2007)
    8. Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children. (PubMed id 19889825)1, 4, 9 Cole S.A....Gibbs R.A. (Am. J. Clin. Nutr. 2010)
    9. A two-base deletion -439delGC in the melanocortin-4 receptor promoter associated with early-onset obesity. (PubMed id 16710097)1, 4, 9 Valli-Jaakola K....Schalin-JAontti C. (Horm. Res. 2006)
    10. Lifestyle intervention in obese children with variations in the melanocortin 4 receptor gene. (PubMed id 18997677)1, 4, 9 Reinehr T....Hinney A. (Obesity (Silver Spring) 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: 4160 HGNC: 6932 AceView: MC4R Ensembl:ENSG00000166603 euGenes: HUgn4160
    ECgene: MC4R Kegg: 4160 H-InvDB: MC4R

    (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 MC4R Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MC4R[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Melanocortin_receptor

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MC4R gene:
    Search GeneIP for patents involving MC4R

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



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