Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    MC4R melanocortin 4 receptor [ Homo sapiens (human) ]

    Gene ID: 4160, updated on 22-Aug-2016
    Official Symbol
    MC4Rprovided by HGNC
    Official Full Name
    melanocortin 4 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6932
    See related
    Ensembl:ENSG00000166603 HPRD:01116; MIM:155541; Vega:OTTHUMG00000132766
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Orthologs
    Location:
    18q22
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (60371331..60372768, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (58038564..58040001, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene general transcription factor IIH subunit 1 pseudogene Neighboring gene uncharacterized LOC105372155 Neighboring gene dynein light chain roadblock-type 1 pseudogene Neighboring gene mitochondrial ribosomal protein S5 pseudogene 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Obesity
    MedGen: C0028754 OMIM: 601665 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    NHGRI GWA Catalog
    Association between common variants near the melanocortin 4 receptor gene and severe antipsychotic drug-induced weight gain.
    NHGRI GWA Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common genetic variation near MC4R is associated with waist circumference and insulin resistance.
    NHGRI GWA Catalog
    Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.
    NHGRI GWA Catalog
    Common variants near MC4R are associated with fat mass, weight and risk of obesity.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
    NHGRI GWA Catalog
    Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
    NHGRI GWA Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    NHGRI GWA Catalog
    Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
    NHGRI GWA Catalog
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.
    NHGRI GWA Catalog
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    NHGRI GWA Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.
    NHGRI GWA Catalog
    Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
    NHGRI GWA Catalog
    Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC126851, MGC138197

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    melanocortin receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    melanocyte-stimulating hormone receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanocyte-stimulating hormone receptor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    neuropeptide binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    peptide hormone binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adenylate cyclase-modulating G-protein coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    diet induced thermogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    energy reserve metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    feeding behavior IEA
    Inferred from Electronic Annotation
    more info
     
    insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of feeding behavior IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of bone resorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cAMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of grooming behavior IEA
    Inferred from Electronic Annotation
    more info
     
    response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    melanocortin receptor 4
    Names
    MC4-R

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

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

    Genomic

    1. NG_016441.1 RefSeqGene

      Range
      5001..6438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005912.2NP_005903.2  melanocortin receptor 4

      See identical proteins and their annotated locations for NP_005903.2

      Status: REVIEWED

      Source sequence(s)
      BC101802, DA362673
      Consensus CDS
      CCDS11976.1
      UniProtKB/Swiss-Prot
      P32245
      Related
      ENSP00000299766, OTTHUMP00000163654, ENST00000299766, OTTHUMT00000256139
      Conserved Domains (2) summary
      pfam00001
      Location:67302
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:56316
      7tm_4; Olfactory receptor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      60371331..60372768 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      58034197..58035634 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)