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Aliases for MC4R Gene

Aliases for MC4R Gene

  • Melanocortin 4 Receptor 2 3 5
  • 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 and Obesity, Mc4r-Related. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and peptide hormone binding. An important paralog of this gene is MC5R.

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). The melanocortins are involved in a range of physiological functions, including pigmentation and inflammation.

Gene Wiki entry for MC4R Gene

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

Genomics for MC4R Gene

Regulatory Elements for MC4R Gene

Enhancers for MC4R Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G060295 0.4 ENCODE 11.1 +76.9 76883 0.9 MAFK MC4R LOC105372155
GH18G059389 0.4 ENCODE 5.1 +983.0 982966 0.6 ZSCAN4 LMAN1 MC4R ENSG00000267677 GC18M059402
GH18G060372 0.5 ENCODE 0.7 0.0 -12 0.8 NFYB RAD21 EP300 MC4R GC18M060463
GH18G060446 0.8 FANTOM5 ENCODE 0.2 -74.4 -74417 1.2 ZNF263 HDGF POLR2A EZH2 GC18M060463 MC4R
GH18G060448 0.2 ENCODE 0.2 -75.9 -75898 0.2 GC18M060463 MC4R
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MC4R on UCSC Golden Path with GeneCards custom track

Promoters for MC4R Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000104231 -225 400 RAD21 EP300

Genomic Location for MC4R Gene

Chromosome:
18
Start:
60,371,110 bp from pter
End:
60,372,775 bp from pter
Size:
1,666 bases
Orientation:
Minus strand

Genomic View for MC4R Gene

Genes around MC4R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MC4R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P32245-MC4R_HUMAN
    Recommended name:
    Melanocortin receptor 4
    Protein Accession:
    P32245
    Secondary Accessions:
    • B2RAC3
    • Q16317
    • Q3MIJ6

    Protein attributes for MC4R Gene

    Size:
    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

Post-translational modifications for MC4R Gene

  • Glycosylation at Asn3, posLast=1717, and Asn26
  • Modification sites at PhosphoSitePlus

Other Protein References for MC4R Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MC4R Gene

Domains & Families for MC4R Gene

Gene Families for MC4R Gene

Graphical View of Domain Structure for InterPro Entry

P32245

UniProtKB/Swiss-Prot:

MC4R_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
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:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0004977 melanocortin receptor activity TAS 8794897
GO:0004980 melanocyte-stimulating hormone receptor activity IPI 19743876
GO:0005515 protein binding IPI 19329486
genes like me logo Genes that share ontologies with MC4R: view
genes like me logo Genes that share phenotypes with MC4R: view

Human Phenotype Ontology for MC4R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MC4R Gene

MGI Knock Outs for MC4R:

Animal Model Products

  • Taconic Biosciences Mouse Models for MC4R

miRNA for MC4R Gene

miRTarBase miRNAs that target MC4R

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MC4R

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MC4R gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 1
endoplasmic reticulum 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:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA --
genes like me logo Genes that share ontologies with MC4R: view

Pathways & Interactions for MC4R Gene

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

SIGNOR curated interactions for MC4R Gene

Is inactivated by:

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:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway TAS 8794897
genes like me logo Genes that share ontologies with MC4R: view

Drugs & Compounds for MC4R Gene

(55) Drugs for MC4R Gene - From: PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Haloperidol Approved Pharma Antagonist Antipsychotic drug 147
Amisulpride Approved, Investigational Pharma Antagonist Dopamine D2/D3 receptor antagonist 0
Aripiprazole Approved, Investigational Pharma Antagonist Antipsychotic, High affinity D2 and 5-HT1A receptor partial agonist; also 5-HT2A antagonist 358
Clozapine Approved Pharma Antagonist Antipsychotic medication 117
Olanzapine Approved, Investigational Pharma Antagonist 399

(15) Additional Compounds for MC4R Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MK-0493
Full agonist, Agonist
NDP-MSH
Full agonist, Agonist

(5) Tocris Compounds for MC4R Gene

Compound Action Cas Number
ACTH (1-39) Potent endogenous MC2 agonist 12279-41-3
BMS 470539 dihydrochloride Potent, selective MC1 receptor agonist 457893-92-4
Melanotan II High affinity melanocortin receptor agonist 121062-08-6
ML 00253764 hydrochloride Melanocortin MC4 receptor antagonist; brain penetrant 1706524-94-8
SHU 9119 MC3 and MC4 antagonist; MC5 partial agonist 168482-23-3

(12) ApexBio Compounds for MC4R Gene

Compound Action Cas Number
[D-Trp8]-γ-MSH 321351-81-9
[Nle4,D-Phe7]-α-MSH 75921-69-6
HS 014 207678-81-7
HS 024 212370-59-7
JKC 363 436083-30-6
MCL 0020 475498-26-1
Melanotan II 121062-08-6
ML 00253764 hydrochloride
PG 931 667430-81-1
SHU 9119 168482-23-3
THIQ 312637-48-2
α-MSH 581-05-5
genes like me logo Genes that share compounds with MC4R: view

Drug Products

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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MC4R

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

No ASD Table

Relevant External Links for MC4R Gene

GeneLoc Exon Structure for
MC4R
ECgene alternative splicing isoforms for
MC4R

Expression for MC4R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MC4R Gene

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

This gene is overexpressed in Brain - Hypothalamus (x11.0), Brain - Caudate (basal ganglia) (x7.1), Brain - Anterior cingulate cortex (BA24) (x5.1), and Brain - Putamen (basal ganglia) (x4.8).

NURSA nuclear receptor signaling pathways regulating expression of MC4R Gene:

MC4R

SOURCE GeneReport for Unigene cluster for MC4R Gene:

Hs.532833

mRNA Expression by UniProt/SwissProt for MC4R Gene:

P32245-MC4R_HUMAN
Tissue specificity: Brain, placental, and gut tissues.

Evidence on tissue expression from TISSUES for MC4R Gene

  • Nervous system(4.6)
  • Adrenal gland(2.1)
  • Kidney(2.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with MC4R: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia MC4R 34 35
  • 99.8 (n)
oppossum
(Monodelphis domestica)
Mammalia MC4R 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MC4R 34 35
  • 89.63 (n)
mouse
(Mus musculus)
Mammalia Mc4r 34 16 35
  • 88.72 (n)
rat
(Rattus norvegicus)
Mammalia Mc4r 34
  • 88.32 (n)
cow
(Bos Taurus)
Mammalia MC4R 34 35
  • 87.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MC4R 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves MC4R 34 35
  • 80.49 (n)
lizard
(Anolis carolinensis)
Reptilia MC4R 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mc4r 34
  • 70.9 (n)
zebrafish
(Danio rerio)
Actinopterygii mc4r 34 35
  • 68.34 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 19 (a)
ManyToMany
-- 35
  • 16 (a)
ManyToMany
Species where no ortholog for MC4R was found in the sources mined by GeneCards:
  • 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

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

Paralogs for MC4R Gene

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
rs121913557 Pathogenic, Obesity (OBESITY) [MIM:601665] 60,372,202(-) CTGAG(A/G)TGTTT reference, missense
rs121913558 Pathogenic, Obesity (OBESITY) [MIM:601665] 60,372,178(-) TCATC(A/T)GCTTG reference, missense
rs121913559 Pathogenic, Obesity (OBESITY) [MIM:601665], Obesity (OBESITY) [MIM:601665] 60,372,045(-) AACCA(C/G/T)TGTCA reference, missense
rs121913560 Pathogenic, Obesity (OBESITY) [MIM:601665] 60,371,842(-) TCATC(A/G)TAAGT reference, missense
rs121913561 Pathogenic, Obesity (OBESITY) [MIM:601665] 60,371,529(-) TCAGA(A/G)TCCAT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv458092 CNV loss 19166990
nsv577058 CNV loss 21841781

Variation tolerance for MC4R Gene

Residual Variation Intolerance Score: 44.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.03; 50.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MC4R Gene

Human Gene Mutation Database (HGMD)
MC4R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MC4R

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

Disorders for MC4R Gene

MalaCards: The human disease database

(17) MalaCards diseases for MC4R Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
obesity
  • obesity, association with
obesity, mc4r-related
morbid obesity
  • severe obesity
bulimia nervosa
  • hyperorexia nervosa
obesity susceptibility, ghrl-related
  • obesity, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search MC4R in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MC4R_HUMAN
  • 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.

Relevant External Links for MC4R

Genetic Association Database (GAD)
MC4R
Human Genome Epidemiology (HuGE) Navigator
MC4R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MC4R
genes like me logo Genes that share disorders with MC4R: view

No data available for Genatlas for MC4R Gene

Publications for MC4R Gene

  1. 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 22 46 64
  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 22 46 64
  3. Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children. (PMID: 19889825) Cole S.A. … Gibbs R.A. (Am. J. Clin. Nutr. 2010) 3 22 46 64
  4. Sympathetic function in human carriers of melanocortin-4 receptor gene mutations. (PMID: 20147580) Sayk F. … Lehnert H. (J. Clin. Endocrinol. Metab. 2010) 3 22 46 64
  5. Common genetic variants at the MC4R locus are associated with obesity, but not with dietary energy intake or colorectal cancer in the Scottish population. (PMID: 19050674) Tenesa A. … Dunlop M.G. (Int J Obes (Lond) 2009) 3 22 46 64

Products for MC4R Gene

  • Addgene plasmids for MC4R

Sources for MC4R Gene

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