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Aliases for MC4R Gene

Aliases for MC4R Gene

  • Melanocortin 4 Receptor 2 3
  • MC4-R 3 4
  • Melanocortin Receptor 4 3

External Ids for MC4R Gene

Previous GeneCards Identifiers for MC4R Gene

  • GC18M057869
  • GC18M058011
  • GC18M056187
  • GC18M056189
  • GC18M054747

Summaries for MC4R Gene

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 due to melanocortin 4 receptor deficiency. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include ubiquitin protein ligase binding and neuropeptide binding. An important paralog of this gene is LPAR1.

UniProtKB/Swiss-Prot for MC4R Gene

  • 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).

Tocris 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 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MC4R Gene

Genomics for MC4R Gene

Regulatory Elements for MC4R Gene

Genomic Location for MC4R Gene

60,371,110 bp from pter
60,372,775 bp from pter
1,666 bases
Minus strand

Genomic View for MC4R Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MC4R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MC4R Gene

Proteins for MC4R Gene

  • Protein details for MC4R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Melanocortin receptor 4
    Protein Accession:
    Secondary Accessions:
    • B2RAC3
    • Q16317
    • Q3MIJ6

    Protein attributes for MC4R Gene

    332 amino acids
    Molecular mass:
    36943 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for MC4R Gene

neXtProt entry for MC4R Gene

Proteomics data for MC4R Gene at MOPED

Post-translational modifications for MC4R Gene

  • Glycosylation at Asn3, Asn17, and Asn26
  • Modification sites at PhosphoSitePlus

Other Protein References for MC4R Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MC4R Gene

Domains for MC4R Gene

Gene Families for MC4R Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the G-protein coupled receptor 1 family.
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with MC4R: view

Function for MC4R Gene

Molecular function for MC4R Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for MC4R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity --
GO:0004977 melanocortin receptor activity TAS 8794897
GO:0004980 melanocyte-stimulating hormone receptor activity IPI 19743876
GO:0005515 protein binding IPI 19329486
GO:0017046 peptide hormone binding IEA --
genes like me logo Genes that share ontologies with MC4R: view
genes like me logo Genes that share phenotypes with MC4R: view

Animal Models for MC4R Gene

MGI Knock Outs for MC4R:

Animal Model Products

miRNA for MC4R Gene

miRTarBase miRNAs that target MC4R

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MC4R

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MC4R Gene

Localization for MC4R Gene

Subcellular locations from UniProtKB/Swiss-Prot for MC4R Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for MC4R Gene COMPARTMENTS Subcellular localization image for MC4R gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for MC4R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MC4R: view

Pathways for MC4R Gene

genes like me logo Genes that share pathways with MC4R: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MC4R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002024 diet induced thermogenesis IEA --
GO:0006112 energy reserve metabolic process IEA --
GO:0007186 G-protein coupled receptor signaling pathway --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway TAS 8794897
GO:0007631 feeding behavior IEA --
genes like me logo Genes that share ontologies with MC4R: view

Compounds for MC4R Gene

(5) Tocris Compounds for MC4R Gene

Compound Action Cas Number
[D-Trp8]-gamma-MSH Selective MC3 receptor agonist [321351-81-9]
[Nle4,D-Phe7]-alpha-MSH Melanocortin receptor agonist [75921-69-6]
ACTH (1-39) Potent endogenous MC2 agonist [12279-41-3]
BMS 470539 dihydrochloride Potent, selective MC1 receptor agonist [457893-92-4]
MCL 0020 Selective MC4 receptor antagonist [475498-26-1]

(15) IUPHAR Ligand for MC4R Gene

Ligand Type Action Affinity Pubmed IDs
MCL0129 Antagonist Antagonist 10.1
MBP10 Antagonist Antagonist 10
NDP-MSH Agonist Full agonist 10
[125I]NDP-MSH Agonist Full agonist 9.5
MT-II Agonist Full agonist 9.4
agouti-related protein Antagonist Inverse agonist 9.3
SHU9119 Agonist Partial agonist 9.2
[125I]SHU9119 Antagonist Antagonist 9.2
THIQ Agonist Full agonist 8.9
alpha-MSH Agonist Full agonist 8.4
PG-901 Antagonist Antagonist 8.1
RY764 Agonist Full agonist 8.1
HS024 Antagonist Antagonist 7.7
HS014 Agonist Partial agonist 7
MK-0493 Agonist Full agonist

(29) Novoseek inferred chemical compound relationships for MC4R Gene

Compound -log(P) Hits PubMed IDs
shu 9119 87.5 15
mb-243 86.4 1
alpha msh 77.8 4
acth 57.9 11
piperidine 24.7 2

(3) PharmGKB related drug/compound annotations for MC4R Gene

Drug/compound Annotation
antipsychotics CA
clozapine CA
olanzapine CA
genes like me logo Genes that share compounds with MC4R: view

Transcripts for MC4R Gene

mRNA/cDNA for MC4R Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MC4R Gene

Melanocortin 4 receptor:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MC4R

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MC4R Gene

No ASD Table

Relevant External Links for MC4R Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MC4R Gene

mRNA expression in normal human tissues for MC4R Gene

mRNA differential expression in normal tissues according to GTEx for MC4R Gene

This gene is overexpressed in Brain - Hypothalamus (11.0), Brain - Caudate (basal ganglia) (7.1), Brain - Anterior cingulate cortex (BA24) (5.1), and Brain - Putamen (basal ganglia) (4.8).

SOURCE GeneReport for Unigene cluster for MC4R Gene Hs.532833

mRNA Expression by UniProt/SwissProt for MC4R Gene

Tissue specificity: Brain, placental, and gut tissues
genes like me logo Genes that share expressions with MC4R: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Expression partners for MC4R Gene

Orthologs for MC4R Gene

This gene was present in the common ancestor of chordates.

Orthologs for MC4R Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MC4R 35
  • 87.01 (n)
  • 93.66 (a)
MC4R 36
  • 93 (a)
(Canis familiaris)
Mammalia MC4R 35
  • 89.63 (n)
  • 96.07 (a)
MC4R 36
  • 96 (a)
(Mus musculus)
Mammalia Mc4r 35
  • 88.72 (n)
  • 94.26 (a)
Mc4r 16
Mc4r 36
  • 94 (a)
(Pan troglodytes)
Mammalia MC4R 35
  • 99.8 (n)
  • 99.7 (a)
MC4R 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Mc4r 35
  • 88.32 (n)
  • 94.26 (a)
(Monodelphis domestica)
Mammalia MC4R 36
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia MC4R 36
  • 82 (a)
(Gallus gallus)
Aves MC4R 35
  • 80.49 (n)
  • 87.8 (a)
MC4R 36
  • 88 (a)
(Anolis carolinensis)
Reptilia MC4R 36
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mc4r 35
  • 70.9 (n)
  • 74.92 (a)
(Danio rerio)
Actinopterygii mc4r 35
  • 68.34 (n)
  • 73.58 (a)
mc4r 36
  • 71 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 16 (a)
-- 36
  • 19 (a)
Species with no ortholog for MC4R:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MC4R Gene

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

Paralogs for MC4R Gene

genes like me logo Genes that share paralogs with MC4R: view

Variants for MC4R Gene

Sequence variations from dbSNP and Humsavar for MC4R Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs1016862 -- 60,371,844(-) GATCA(G/T)CATAA missense, reference
rs2229616 - 60,372,043(-) CCATT(A/G)TCATC missense, reference
rs2282556 -- 60,372,058(+) TGATC(C/T)ATTTG missense, reference
rs6567166 -- 60,371,099(+) TTTTG(C/T)AAATC downstream-variant-500B
rs8087522 -- 60,373,245(+) GTTCA(A/G)TTAAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MC4R Gene

Variant ID Type Subtype PubMed ID
nsv458092 CNV Loss 19166990

Relevant External Links for MC4R Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MC4R Gene

Disorders for MC4R Gene

(1) OMIM Diseases for MC4R Gene (155541)


  • 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. {ECO:0000269 PubMed:10199800, ECO:0000269 PubMed:11443223, ECO:0000269 PubMed:11487744, ECO:0000269 PubMed:12588803, ECO:0000269 PubMed:12646665, ECO:0000269 PubMed:14671178, ECO:0000269 PubMed:14764818, ECO:0000269 PubMed:15486053}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for MC4R Gene

(18) Novoseek inferred disease relationships for MC4R Gene

Disease -log(P) Hits PubMed IDs
obesity 83.2 229
obesity morbid 56.9 6
binge eating disorder 47.6 8
acth deficiency 46.5 1
binge eating 43.8 4

Relevant External Links for MC4R

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with MC4R: view

No data available for Genatlas for MC4R Gene

Publications for MC4R Gene

  1. Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. (PMID: 10199800) Hinney A. … Hebebrand J. (J. Clin. Endocrinol. Metab. 1999) 3 4 23 48
  2. Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. (PMID: 11487744) Dubern B. … Tounian P. (J. Pediatr. 2001) 3 4 23 48
  3. Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese Finnish children and adults. (PMID: 14764818) Valli-Jaakola K. … Schalin-Jaentti C. (J. Clin. Endocrinol. Metab. 2004) 3 4 23 48
  4. Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. (PMID: 15486053) Larsen L.H. … Pedersen O. (J. Clin. Endocrinol. Metab. 2005) 3 4 23 48
  5. Mutational analysis of the melanocortin-4 receptor (MC4R) gene in children with premature pubarche and adolescent girls with hyperandrogenism. (PMID: 15533382) Roldan Martin M.B. … Witchel S.F. (Fertil. Steril. 2004) 3 23 48

Products for MC4R Gene

Sources for MC4R Gene

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