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Aliases for MC3R Gene

Aliases for MC3R Gene

  • Melanocortin 3 Receptor 2 3
  • BMIQ9 3 6
  • MC3-R 3 4
  • Obesity Quantitative Trait Locus 3
  • Melanocortin Receptor 3 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 Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include peptide hormone binding and melanocortin receptor activity. An important paralog of this gene is LPAR1.

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). 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 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

Genomic Location for MC3R Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn2, Asn16, and Asn28

Other Protein References for MC3R Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MC3R Gene

Domains for MC3R Gene

Gene Families for MC3R Gene

HGNC:
  • MCNR :GPCR / Class A : Melanocortin receptors
IUPHAR :

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 :
  • P41968
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:0004930 G-protein coupled receptor activity --
GO:0004977 melanocortin receptor activity TAS 8175743
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 MC3R: view
genes like me logo Genes that share phenotypes with MC3R: view

Animal Models for MC3R Gene

MGI Knock Outs for MC3R:

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

Gene Ontology (GO) - Cellular Components for MC3R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8463333
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with MC3R: view

Pathways for MC3R Gene

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

Pathways by source for MC3R Gene

Gene Ontology (GO) - Biological Process for MC3R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate IEA --
GO:0007186 G-protein coupled receptor signaling pathway --
GO:0007187 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS 8175743
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA --
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway TAS 8175743
genes like me logo Genes that share ontologies with MC3R: view

Compounds for MC3R Gene

(5) Tocris Compounds for MC3R Gene

Compound Action Cas Number
[Nle4,D-Phe7]-alpha-MSH Melanocortin receptor agonist [75921-69-6]
[D-Trp8]-gamma-MSH Selective MC3 receptor agonist [321351-81-9]
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]

(12) IUPHAR Ligand for MC3R Gene

Ligand Type Action Affinity Pubmed IDs
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
gamma-MSH Agonist Full agonist 8.5
alpha-MSH Agonist Full agonist 8.4
[D-Trp8]gamma-MSH Agonist Full agonist 8.2
PG-901 Antagonist Antagonist 8.1
HS024 Antagonist Antagonist 7.7
HS014 Agonist Partial agonist 7

(14) Novoseek inferred chemical compound relationships for MC3R Gene

Compound -log(P) Hits PubMed IDs
shu 9119 92.2 8
alpha msh 78.9 3
org-2766 75 1
acth 68 17
acth 4-10 67.3 1
genes like me logo Genes that share compounds with MC3R: view

Transcripts for MC3R Gene

mRNA/cDNA for MC3R Gene

(8) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(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 (46.2).

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 expressions with MC3R: view

No data available for Protein expression 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
chimpanzee
(Pan troglodytes)
Mammalia MC3R 35
  • 99.59 (n)
  • 99.38 (a)
MC3R 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia MC3R 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MC3R 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mc3r 35
  • 87.62 (n)
  • 89.78 (a)
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

Selected 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

P41968-MC3R_HUMAN
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 MAF
rs3746619 -- 56,248,749(+) AAAGA(A/C)GTATC utr-variant-5-prime
rs3827103 - 56,248,973(+) CCGAG(A/G)TTTTC missense, reference
rs6014649 -- 56,247,387(+) ATTCA(A/G)GCACC upstream-variant-2KB
rs6092276 -- 56,247,032(+) GTACA(A/G)GTGTT upstream-variant-2KB
rs6123567 -- 56,246,805(+) Atgtg(C/T)gtgtg upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv528431 CNV Loss 19592680

Relevant External Links for MC3R Gene

HapMap Linkage Disequilibrium report
MC3R
Human Gene Mutation Database (HGMD)
MC3R

Disorders for MC3R Gene

(2) OMIM Diseases for MC3R Gene (155540)

(1) University of Copenhagen DISEASES for MC3R Gene

(8) Novoseek inferred disease relationships for MC3R Gene

Disease -log(P) Hits PubMed IDs
obesity 63 30
arthritis gouty 56.5 2
obesity morbid 47.5 2
hyperinsulinemia 29.4 1
insulin sensitivity 20.8 1

Relevant External Links for MC3R

Genetic Association Database (GAD)
MC3R
Human Genome Epidemiology (HuGE) Navigator
MC3R
genes like me logo Genes that share disorders with MC3R: view

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

Publications for MC3R Gene

  1. A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity. (PMID: 11889220) Lee Y.-S. … Loke K.-Y. (J. Clin. Endocrinol. Metab. 2002) 3 4 23 48
  2. 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
  3. The role of melanocortin 3 receptor gene in childhood obesity. (PMID: 17639020) Lee Y.S. … Loke K.Y. (Diabetes 2007) 3 23 48
  4. Single nucleotide polymorphisms of the melanocortin-3 receptor gene are associated with substrate oxidation and first-phase insulin secretion in offspring of type 2 diabetic subjects. (PMID: 17192297) Rutanen J. … Laakso M. (J. Clin. Endocrinol. Metab. 2007) 3 23 48
  5. Effect of the melanocortin-3 receptor C17A and G241A variants on weight loss in childhood obesity. (PMID: 17413091) Santoro N. … Del Giudice E.M. (Am. J. Clin. Nutr. 2007) 3 23 48

Products for MC3R Gene

Sources for MC3R Gene

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