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    MC4R melanocortin 4 receptor [ Homo sapiens (human) ]

    Gene ID: 4160, updated on 14-Nov-2024

    Summary

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    Official Symbol
    MC4Rprovided by HGNC
    Official Full Name
    melanocortin 4 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6932
    See related
    Ensembl:ENSG00000166603 MIM:155541; AllianceGenome:HGNC:6932
    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
    Also known as
    BMIQ20
    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
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    Genomic context

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    See MC4R in Genome Data Viewer
    Location:
    18q21.32
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (60371062..60372775, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (60574034..60575747, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (58038295..58040008, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene general transcription factor IIH subunit 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13427 Neighboring gene MPRA-validated peak3174 silencer Neighboring gene uncharacterized LOC105372155 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:57986175-57987036 Neighboring gene dynein light chain roadblock-type 1 pseudogene Neighboring gene mitochondrial ribosomal protein S5 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants. Moore BS, et al. PLoS One, 2014. PMID 24705671, Free PMC Article
    2. Analysis of single nucleotide polymorphisms in the melanocortin-4 receptor promoter in infantile spasms. Liu ZL, et al. Neuropediatrics, 2007 Dec. PMID 18461507
    3. Val103Ile polymorphism of the melanocortin-4 receptor gene (MC4R) in cancer cachexia. Knoll S, et al. BMC Cancer, 2008 Mar 31. PMID 18377640, Free PMC Article
    4. Association of the MC4R V103I polymorphism with the metabolic syndrome: the KORA Study. Heid IM, et al. Obesity (Silver Spring), 2008 Feb. PMID 18239646
    5. Role of third intracellular loop of the melanocortin 4 receptor in the regulation of constitutive activity. Kim DH, et al. Biochem Biophys Res Commun, 2008 Jan 18. PMID 17986382

    See all (491) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Melanocortin-4 Receptor PLC Activation Is Modulated by an Interaction with the Monocarboxylate Transporter 8.
      Title: Melanocortin-4 Receptor PLC Activation Is Modulated by an Interaction with the Monocarboxylate Transporter 8.
    2. The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans.
      Title: The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans.
    3. Novel Melanocortin-3 and -4 Receptor Functional Variants in Asian Children With Severe Obesity.
      Title: Novel Melanocortin-3 and -4 Receptor Functional Variants in Asian Children With Severe Obesity.
    4. Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.
      Title: Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.
    5. Evaluation of the role of FTO (rs9939609) and MC4R (rs17782313) gene polymorphisms in type 1 diabetes and their relation to obesity.
      Title: Evaluation of the role of FTO (rs9939609) and MC4R (rs17782313) gene polymorphisms in type 1 diabetes and their relation to obesity.
    6. Predisposition of the Common MC4R rs17782313 Female Carriers to Elevated Obesity and Interaction with Eating Habits.
      Title: Predisposition of the Common MC4R rs17782313 Female Carriers to Elevated Obesity and Interaction with Eating Habits.
    7. Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in Qatar.
      Title: Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in Qatar.
    8. Computational analysis of missense variants of human MC4R and childhood obesity.
      Title: Computational analysis of missense variants of human MC4R and childhood obesity.
    9. Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study.
      Title: Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study.
    10. Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery.
      Title: Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery.
    Submit: New GeneRIF Correction See all GeneRIFs (388)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
    MedGen: C4759928 OMIM: 618406 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126851, MGC138197

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables melanocortin receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables melanocyte-stimulating hormone receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables melanocyte-stimulating hormone receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables melanocyte-stimulating hormone receptor activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables neuropeptide binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables peptide hormone binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in diet induced thermogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in energy reserve metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in feeding behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in insulin secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of feeding behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of bone resorption IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of eating behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of grooming behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to bisphenol A IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to food IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to melanocyte-stimulating hormone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    melanocortin receptor 4
    Names
    MC4-R
    mutant melanocortin-4 receptor

    NCBI Reference Sequences (RefSeq)

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    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
      4994..6707
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1346

    mRNA and Protein(s)

    1. NM_005912.3 → NP_005903.2  melanocortin receptor 4

      See identical proteins and their annotated locations for NP_005903.2

      Status: REVIEWED

      Source sequence(s)
      AC091576, AU310210, BC101802, DA362673
      Consensus CDS
      CCDS11976.1
      UniProtKB/Swiss-Prot
      B2RAC3, P32245, Q16317, Q3MIJ6
      UniProtKB/TrEMBL
      A0N0W6, A0N0W7, A0N0W9
      Related
      ENSP00000299766.3, ENST00000299766.5
      Conserved Domains (1) summary
      cd15353
      Location:45 → 313
      7tmA_MC4R; melanocortin receptor subtype 4, member of the class A family of seven-transmembrane G protein-coupled receptors

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      60371062..60372775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      60574034..60575747 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P32245.2 GenPept UniProtKB/Swiss-Prot:P32245

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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