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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MC4R Gene

protein-coding   GIFtS: 64
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and obesity, mc4r-related, and among its related super-pathways are Class A/1 (Rhodopsin-like receptors) and Signaling by GPCR. 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. This receptor is mediated by G proteins that stimulate adenylate cyclase

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.2  NT_025028.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MC4R

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cell membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P32245

  • MC4R Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MC4R Protein Expression
    REFSEQ proteins: NP_005903.2  
    ENSEMBL proteins: 
     ENSP00000299766  
    Reactome Protein details: P32245
    Human Recombinant Protein Products for MC4R: 
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    Novus Biologicals MC4R Protein
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    Cloud-Clone Corp. Proteins for MC4R 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    MC4R for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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. This receptor is mediated by G proteins that stimulate adenylate cyclase

         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): 5/7 molecular function terms (GO ID links to tree view) (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  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 - Custom generated mouse model solutions for MC4R 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MC4R

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MC4R 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MC4R


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MC4R About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.41
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.37
    Peptide ligand-binding receptors0.60
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    3Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q
    Peptide GPCRs0.46
    4Prostacyclin signalling through prostacyclin receptor
    G alpha (s) signalling events0.31
    5Syndecan-3-mediated signaling events
    Syndecan-3-mediated signaling events

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MC4R
        Adenylate cyclase-activating neuropeptides


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

    5/7        Reactome Pathways for MC4R (see all 7)
        GPCR downstream signaling
    Peptide ligand-binding receptors
    Signal Transduction
    Signaling by GPCR
    GPCR ligand binding


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


    MC4R for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MC4R

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

    5/77 Interacting proteins for MC4R (P322453 ENSP000002997664) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MC4R for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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]

    10/15 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

    10/29 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)

    Search CenterWatch for drugs/clinical trials and news about MC4R

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    See MC4R Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MC4R

    SOURCE GeneReport for Unigene cluster: Hs.532833

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

        SABiosciences Expression via Pathway-Focused PCR Array including MC4R: 
              G Protein Coupled Receptors 384HT in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MC4R gene from 4/10 species (see all 10)    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_016977.31  NP_058673.21 
     668577155 
    chicken
    (Gallus gallus)
    Aves MC4R1 melanocortin 4 receptor 80.78(n)
    88.34(a)
      428485  NM_001031514.1  NP_001026685.1 
    lizard
    (Anolis carolinensis)
    Reptilia MC4R6
    Uncharacterized protein
    84(a)
    1 ↔ 1
    GL343408.1(53304-54239)
    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/181 SNPs in MC4R are shown (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
    ----------
    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--------
    VAR_0386384
    Obesity (OBESITY)4--see VAR_0386382 N D mis40--------
    VAR_0386524
    Obesity (OBESITY)4--see VAR_0386522 C Y mis40--------
    VAR_0107044
    Obesity (OBESITY)4--see VAR_0107042 S R mis40--------
    VAR_0386334
    Obesity (OBESITY)4--see VAR_0386332 S Y 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    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

  • 20/24 diseases for MC4R (see all 24):    About MalaCards
    obesity    obesity, mc4r-related    obesity, autosomal dominant    obesity, association with
    eating disorder    morbid obesity    acth deficiency    bulimia nervosa
    hyperandrogenism    anorexia nervosa    hyperinsulinism    sleep apnea
    gout    attention deficit hyperactivity disorder    autism spectrum disorder    polycystic ovary syndrome
    spinocerebellar ataxia    pertussis    insulin resistance    ataxia

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

    MC4R for disorders           About GeneDecksing

    10/18 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)
    About This Section

    PubMed articles for MC4R gene, integrated from 9 sources (see all 519):
    (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. (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. (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. (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. (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. (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. (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. (2007)
    8. Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispa nic children. (PubMed id 19889825)1, 4, 9 Cole S.A....Gibbs R.A. (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-Jantti C. (2006)
    10. Combined effects of MC4R and FTO common genetic variants on obesity in European general populations. (PubMed id 19255736)1, 4, 9 Cauchi S....Froguel P. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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      (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)
    About This Section
    Entrez Gene: 4160 HGNC: 6932 AceView: MC4R Ensembl:ENSG00000166603 euGenes: HUgn4160
    ECgene: MC4R Kegg: 4160 H-InvDB: MC4R

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MC4R Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MC4R
    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.)
    About This Section
    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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    About This Section

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