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Aliases for MC3R Gene

Aliases for MC3R Gene

  • Melanocortin 3 Receptor 2 3 5
  • MC3-R 3 4
  • Obesity Quantitative Trait Locus 3
  • BMIQ9 3
  • OB20 3
  • OQTL 3
  • MC3 3

External Ids for MC3R Gene

Previous GeneCards Identifiers for MC3R Gene

  • GC20P054552
  • GC20P055462
  • GC20P055509
  • GC20P054257
  • GC20P054823
  • GC20P051605

Summaries for MC3R Gene

Entrez Gene Summary for MC3R Gene

  • This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]

GeneCards Summary for MC3R Gene

MC3R (Melanocortin 3 Receptor) is a Protein Coding gene. Diseases associated with MC3R include Obesity, Severe Bmiq9 and Obesity, Susceptibility To, Mc3r-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 neuropeptide binding. An important paralog of this gene is MC4R.

UniProtKB/Swiss-Prot for MC3R Gene

  • Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase. Required for expression of anticipatory patterns of activity and wakefulness during periods of limited nutrient availability and for the normal regulation of circadian clock activity in the brain.

Tocris Summary for MC3R 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 MC3R Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MC3R Gene

Genomics for MC3R Gene

Regulatory Elements for MC3R Gene

Enhancers for MC3R 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 MC3R on UCSC Golden Path with GeneCards custom track

Genomic Location for MC3R Gene

Chromosome:
20
Start:
56,248,732 bp from pter
End:
56,249,815 bp from pter
Size:
1,084 bases
Orientation:
Plus strand

Genomic View for MC3R Gene

Genes around MC3R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MC3R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MC3R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MC3R Gene

Proteins for MC3R Gene

  • Protein details for MC3R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41968-MC3R_HUMAN
    Recommended name:
    Melanocortin receptor 3
    Protein Accession:
    P41968
    Secondary Accessions:
    • Q4KN27
    • Q9H517

    Protein attributes for MC3R Gene

    Size:
    323 amino acids
    Molecular mass:
    36043 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC13541.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH69105.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH69599.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH96702.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH96737.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH98169.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH98351.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAO72726.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for MC3R Gene

Proteomics data for MC3R Gene at MOPED

Post-translational modifications for MC3R Gene

  • Glycosylation at Asn 2, Asn 16, and Asn 28

Other Protein References for MC3R Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for MC3R (Melanocortin-3 R/MC3R)

No data available for DME Specific Peptides for MC3R Gene

Domains & Families for MC3R Gene

Gene Families for MC3R Gene

Suggested Antigen Peptide Sequences for MC3R Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P41968

UniProtKB/Swiss-Prot:

MC3R_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 MC3R: view

Function for MC3R Gene

Molecular function for MC3R Gene

GENATLAS Biochemistry:
melanocortin receptor 3,expressed in brain,placenta and intestinal tissues,G protein coupled receptor superfamily
UniProtKB/Swiss-Prot Function:
Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase. Required for expression of anticipatory patterns of activity and wakefulness during periods of limited nutrient availability and for the normal regulation of circadian clock activity in the brain.

Gene Ontology (GO) - Molecular Function for MC3R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 19329486
GO:0042923 neuropeptide binding IPI 15927146
genes like me logo Genes that share ontologies with MC3R: view
genes like me logo Genes that share phenotypes with MC3R: view

Human Phenotype Ontology for MC3R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MC3R Gene

MGI Knock Outs for MC3R:

Animal Model Products

  • Taconic Biosciences Mouse Models for MC3R

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for MC3R Gene

Localization for MC3R Gene

Subcellular locations from UniProtKB/Swiss-Prot for MC3R Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MC3R Gene COMPARTMENTS Subcellular localization image for MC3R gene
Compartment Confidence
plasma membrane 5
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for MC3R Gene

Pathways & Interactions for MC3R Gene

genes like me logo Genes that share pathways with MC3R: view

SIGNOR curated interactions for MC3R Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MC3R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway TAS 8175743
GO:0008217 regulation of blood pressure IEA --
GO:0030819 positive regulation of cAMP biosynthetic process IDA 19329486
GO:0032922 circadian regulation of gene expression IEA,ISS --
GO:0045475 locomotor rhythm IEA --
genes like me logo Genes that share ontologies with MC3R: view

Drugs & Compounds for MC3R Gene

(22) Drugs for MC3R Gene - From: DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
[<sup>125</sup>I]NDP-MSH Pharma Full agonist, Agonist 0
[<sup>125</sup>I]SHU9119 Pharma Antagonist 0
agouti-related protein Pharma Inverse agonist, Antagonist 0
HS014 Pharma Partial agonist, Agonist 0
HS024 Pharma Antagonist 0

(13) Additional Compounds for MC3R Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp<sup>8</sup>]gamma-MSH
Full agonist, Agonist
gamma-MSH
Full agonist, Agonist
NDP-MSH
Full agonist, Agonist
[Nle4,D-Phe7]-alpha-MSH
75921-69-6
gamma1-MSH
72629-65-3

(5) Tocris Compounds for MC3R 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 MC3R: view

Transcripts for MC3R Gene

mRNA/cDNA for MC3R Gene

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

Unigene Clusters for MC3R Gene

Melanocortin 3 receptor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MC3R Gene

No ASD Table

Relevant External Links for MC3R Gene

GeneLoc Exon Structure for
MC3R
ECgene alternative splicing isoforms for
MC3R

Expression for MC3R Gene

mRNA expression in normal human tissues for MC3R Gene

mRNA differential expression in normal tissues according to GTEx for MC3R Gene

This gene is overexpressed in Brain - Hypothalamus (x46.2).

SOURCE GeneReport for Unigene cluster for MC3R Gene Hs.248018

mRNA Expression by UniProt/SwissProt for MC3R Gene

P41968-MC3R_HUMAN
Tissue specificity: Brain, placental, and gut tissues.
genes like me logo Genes that share expression patterns with MC3R: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MC3R Gene

Orthologs for MC3R Gene

This gene was present in the common ancestor of chordates.

Orthologs for MC3R Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MC3R 35
  • 89.47 (n)
  • 91.95 (a)
MC3R 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MC3R 35
  • 91.02 (n)
  • 92.26 (a)
mouse
(Mus musculus)
Mammalia Mc3r 35
  • 87.72 (n)
  • 88.85 (a)
Mc3r 16
Mc3r 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MC3R 35
  • 99.59 (n)
  • 99.38 (a)
MC3R 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mc3r 35
  • 87.62 (n)
  • 89.78 (a)
oppossum
(Monodelphis domestica)
Mammalia MC3R 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MC3R 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857164 35
  • 74.45 (n)
  • 76.95 (a)
MC3R 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MC3R 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mc3r 35
  • 74.6 (n)
  • 74.92 (a)
zebrafish
(Danio rerio)
Actinopterygii mc3r 35
  • 70.15 (n)
  • 75.08 (a)
mc3r 36
  • 69 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 15 (a)
ManyToMany
-- 36
  • 18 (a)
ManyToMany
Species with no ortholog for MC3R:
  • 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 MC3R Gene

ENSEMBL:
Gene Tree for MC3R (if available)
TreeFam:
Gene Tree for MC3R (if available)

Paralogs for MC3R Gene

Paralogs for MC3R Gene

(6) SIMAP similar genes for MC3R Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MC3R: view

Variants for MC3R Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MC3R Gene

MC3R_HUMAN-P41968
Genetic variations in MC3R define the body mass index quantitative trait locus 9 (BMIQ9) [MIM:602025]. Variance in body mass index is a susceptibility factor for obesity.

Sequence variations from dbSNP and Humsavar for MC3R Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs3827103 - 56,248,973(+) CCGAG(A/G)TTTTC reference, missense
VAR_055000 -
VAR_055001 -
rs3746619 -- 56,248,749(+) AAAGA(A/C)GTATC utr-variant-5-prime
rs6014649 -- 56,247,387(+) ATTCA(A/G)GCACC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MC3R Gene

Variant ID Type Subtype PubMed ID
nsv528431 CNV Loss 19592680

Variation tolerance for MC3R Gene

Residual Variation Intolerance Score: 38.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.26; 88.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MC3R Gene

Human Gene Mutation Database (HGMD)
MC3R

Disorders for MC3R Gene

MalaCards: The human disease database

(8) MalaCards diseases for MC3R Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
obesity, severe bmiq9
  • obesity, severe, susceptibility to, bmiq9
obesity, susceptibility to, mc3r-related
obesity due to mc3r deficiency
obesity
  • obesity, association with
morbid obesity
  • severe obesity
- elite association - COSMIC cancer census association via MalaCards
Search MC3R in MalaCards View complete list of genes associated with diseases

Relevant External Links for MC3R

Genetic Association Database (GAD)
MC3R
Human Genome Epidemiology (HuGE) Navigator
MC3R
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MC3R
genes like me logo Genes that share disorders with MC3R: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MC3R Gene

Publications for MC3R Gene

  1. Sporadic mutations in melanocortin receptor 3 in morbid obese individuals. (PMID: 18231126) Mencarelli M. … Di Blasio A.M. (Eur. J. Hum. Genet. 2008) 3 4 23 48 67
  2. Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. (PMID: 19091795) Calton M.A. … Vaisse C. (Hum. Mol. Genet. 2009) 3 23
  3. MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family. (PMID: 19329486) Chan L.F. … Clark A.J. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  4. Energy intake and energy expenditure among children with polymorphisms of the melanocortin-3 receptor. (PMID: 19656839) Savastano D.M. … Yanovski J.A. (Am. J. Clin. Nutr. 2009) 3 23
  5. Novel binding motif of ACTH analogues at the melanocortin receptors. (PMID: 19743876) Yang Y. … Harmon C.M. (Biochemistry 2009) 3 23

Products for MC3R Gene

Sources for MC3R Gene

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