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Aliases for MC4R Gene

Aliases for MC4R Gene

  • Melanocortin 4 Receptor 2 3 5
  • MC4-R 3 4

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 due to melanocortin 4 receptor deficiency. Among its related pathways are Peptide ligand-binding receptors and G alpha (s) signalling events. GO annotations related to this gene include G-protein coupled receptor activity and peptide hormone binding. An important paralog of this gene is MC2R.

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around MC4R on UCSC Golden Path with GeneCards custom track

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

Proteomics data for MC4R Gene at MOPED

Post-translational modifications for MC4R Gene

  • Glycosylation at Asn 3, Asn 17, and Asn 26
  • Modification sites at PhosphoSitePlus

Other Protein References for MC4R Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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:0042923 neuropeptide binding IPI 15927146
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

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
Jensen Localization Image for MC4R Gene COMPARTMENTS Subcellular localization image for MC4R gene
Compartment Confidence
plasma membrane 5
nucleus 4
chloroplast 1
endoplasmic reticulum 1
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for MC4R Gene

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:0030073 insulin secretion IEA --
GO:0030819 positive regulation of cAMP biosynthetic process IDA 19329486
GO:0032868 response to insulin IEA --
GO:0045780 positive regulation of bone resorption IEA,IMP 16614075
GO:2000252 negative regulation of feeding behavior IEA --
genes like me logo Genes that share ontologies with MC4R: view

Drugs & Compounds for MC4R Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clozapine Approved Pharma Antagonist Antipsychotic medication, Dopamine antagonist with some D4 selectivity. Also 5-HT2A/2C antagonist 113
Olanzapine Approved, Investigational Pharma Antagonist 380
Temozolomide Approved, Investigational Pharma 670
THIQ Pharma Full agonist, Agonist Potent and selective MC4 receptor agonist 0
[<sup>125</sup>I]NDP-MSH Pharma Full agonist, Agonist 0

(20) Additional Compounds for MC4R Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MK-0493
Full agonist, Agonist
NDP-MSH
Full agonist, Agonist
[Nle4,D-Phe7]-alpha-MSH
75921-69-6
gamma1-MSH
72629-65-3
Melanotan II
121062-08-6

(5) Tocris Compounds for MC4R Gene

Compound Action Cas Number
[Nle4,D-Phe7]-alpha-MSH Melanocortin receptor agonist 75921-69-6
alpha-MSH Endogenous melanocortin receptor agonist 581-05-5
gamma1-MSH Selective MC3 receptor agonist 72629-65-3
Melanotan II High affinity melanocortin receptor agonist 121062-08-6
THIQ Potent and selective MC4 receptor agonist 312637-48-2
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:

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 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).

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.
genes like me logo Genes that share expression patterns with MC4R: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-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
cow
(Bos Taurus)
Mammalia MC4R 35
  • 87.01 (n)
  • 93.66 (a)
MC4R 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MC4R 35
  • 89.63 (n)
  • 96.07 (a)
MC4R 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mc4r 35
  • 88.72 (n)
  • 94.26 (a)
Mc4r 16
Mc4r 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MC4R 35
  • 99.8 (n)
  • 99.7 (a)
MC4R 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mc4r 35
  • 88.32 (n)
  • 94.26 (a)
oppossum
(Monodelphis domestica)
Mammalia MC4R 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MC4R 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves MC4R 35
  • 80.49 (n)
  • 87.8 (a)
MC4R 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MC4R 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mc4r 35
  • 70.9 (n)
  • 74.92 (a)
zebrafish
(Danio rerio)
Actinopterygii mc4r 35
  • 68.34 (n)
  • 73.58 (a)
mc4r 36
  • 71 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 16 (a)
ManyToMany
-- 36
  • 19 (a)
ManyToMany
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

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
VAR_010704 Obesity (OBESITY)
rs13447325 Obesity (OBESITY) 60,372,240(-) CTCTG(A/T)TGGAG reference, missense
rs13447326 Obesity (OBESITY) 60,372,117(-) TTCAC(C/T)CATGT reference, missense
rs2229616 - 60,372,043(-) CCATT(A/G)TCATC reference, missense
rs13447329 - 60,372,015(-) AGATA(C/T)GGATG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv458092 CNV Loss 19166990

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

HapMap Linkage Disequilibrium report
MC4R
Human Gene Mutation Database (HGMD)
MC4R

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

Disorders for MC4R Gene

MalaCards: The human disease database

(12) 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 due to melanocortin 4 receptor deficiency
  • mc4r deficiency
obesity, mc4r-related
morbid obesity
  • severe obesity
bulimia nervosa
  • hyperorexia nervosa
- 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. 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 67
  2. 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 23
  3. Sympathetic function in human carriers of melanocortin-4 receptor gene mutations. (PMID: 20147580) Sayk F. … Lehnert H. (J. Clin. Endocrinol. Metab. 2010) 3 23
  4. Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. (PMID: 18801902) Tan K. … Farooqi I.S. (Endocrinology 2009) 3 23
  5. Regulation of pigmentation in human epidermal melanocytes by functional high-affinity beta-melanocyte-stimulating hormone/melanocortin-4 receptor signaling. (PMID: 18974267) Spencer J.D. … Schallreuter K.U. (Endocrinology 2009) 3 23

Products for MC4R Gene

Sources for MC4R Gene

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