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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MC3R Gene

protein-coding   GIFtS: 64
GCID: GC20P054823

Melanocortin 3 Receptor

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Melanocortin 3 Receptor1 2     OB202
MC3-R2 3     OQTL2
BMIQ92 5     Melanocortin Receptor 32
MC32     Obesity Quantitative Trait Locus2

External Ids:    HGNC: 69311   Entrez Gene: 41592   Ensembl: ENSG000001240897   OMIM: 1555405   UniProtKB: P419683   

Export aliases for MC3R gene to outside databases

Previous GC identifers: GC20P054552 GC20P055462 GC20P055509 GC20P054257 GC20P051605


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 tricuspid valve insufficiency, and obesity, severe bmiq9, and among its related super-pathways are Class A/1 (Rhodopsin-like receptors) 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 CNR1.

UniProtKB/Swiss-Prot: MC3R_HUMAN, P41968
Function: Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which
activate adenylate cyclase

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 (Melanocortin 3 receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MC3R gene promoter:
         AML1a   NRSF form 1   NRSF form 2   Arnt   C/EBPalpha   CHOP-10   AREB6   POU2F1   POU2F1a   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMC3R promoter sequence
   Search SABiosciences Chromatin IP Primers for MC3R

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MC3R


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.2-q13.3   Ensembl cytogenetic band:  20q13.2   HGNC cytogenetic band: 20q13.2-q13.3

MC3R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MC3R gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P054823:  view genomic region     (about GC identifiers)

Start:
54,823,788 bp from pter      End:
54,824,871 bp from pter
Size:
1,084 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MC3R_HUMAN, P41968 (See protein sequence)
Recommended Name: Melanocortin receptor 3  
Size: 323 amino acids; 36043 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAC13541.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH69105.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH69599.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH96702.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=AAH96737.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=AAH98169.1; Type=Erroneous initiation; Note=Translation
N-terminally shortened; Sequence=AAH98351.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAO72726.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q4KN27 Q9H517

Explore the universe of human proteins at neXtProt for MC3R: NX_P41968

Explore proteomics data for MC3R at MOPED 

MC3R Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

MC3R Protein Expression

REFSEQ proteins: NP_063941.3  
ENSEMBL proteins: 
 ENSP00000243911  
Reactome Protein details: P41968
Human Recombinant Protein Products for MC3R: 
EMD Millipore Purified and/or Recombinant MC3R Protein
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Cloud-Clone Corp. Proteins for MC3R 

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005886plasma membrane TAS--
GO:0005887integral to plasma membrane TAS8463333
GO:0016021integral to membrane ----

MC3R for ontologies           About GeneDecksing



MC3R Antibody Products: 
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Cloud-Clone Corp. ELISAs for MC3R 
Cloud-Clone Corp. CLIAs for MC3R


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
MCNR: GPCR / Class A : Melanocortin receptors

IUPHAR Guide to PHARMACOLOGY protein family classification: MC3 receptor 
Melanocortin receptors

5 InterPro protein domains:
 IPR002122 Mcort_3_rcpt
 IPR017452 GPCR_Rhodpsn_7TM
 IPR001671 Melcrt_ACTH_rcpt
 IPR000276 GPCR_Rhodpsn
 IPR001908 Melancort_rcpt

Graphical View of Domain Structure for InterPro Entry P41968

ProtoNet protein and cluster: P41968

3 Blocks protein domains:
IPB001671 Melanocortin receptor family signature
IPB001908 Melanocortin receptor signature
IPB002122 Melanocortin 3 receptor signature


UniProtKB/Swiss-Prot: MC3R_HUMAN, P41968
Similarity: Belongs to the G-protein coupled receptor 1 family


MC3R for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: MC3R_HUMAN, P41968
Function: Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which
activate adenylate cyclase

     Genatlas biochemistry entry for MC3R:
melanocortin receptor 3,expressed in brain,placenta and intestinal tissues,G protein coupled receptor superfamily

     Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004930G-protein coupled receptor activity ----
GO:0004977melanocortin receptor activity TAS8175743
GO:0004980melanocyte-stimulating hormone receptor activity IPI19743876
GO:0005515protein binding IPI19329486
GO:0017046peptide hormone binding IEA--
     
MC3R for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for MC3R:
 Increased gamma-H2AX phosphory  Low eccentricity cells 

     7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mc3r):
 adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  immune system 
 limbs/digits/tail  skeleton 

MC3R for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for MC3R: Mc3rtm1Cone Mc3rtm1Lvp Mc3rtm1Lex

   inGenious Targeting Laboratory - Custom generated mouse model solutions for MC3R 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MC3R

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MC3R 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MC3R 

miRNA
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Gene Editing
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                     Customized lentivirus expression plasmids for stable overexpression of MC3R 

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MC3R


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for MC3R About                                                                                                See pathways by source

SuperPathContained pathways About
1Class A/1 (Rhodopsin-like receptors)
Class A/1 (Rhodopsin-like receptors)0.71
GPCRs, Class A Rhodopsin-like0.41
GPCR ligand binding0.71
Neuroactive ligand-receptor interaction0.37
Peptide ligand-binding receptors0.60
2Signaling by GPCR
Signaling by GPCR0.90
Signal Transduction0.55
GPCR downstream signaling0.90
3Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q
Peptide GPCRs0.46
4Prostacyclin signalling through prostacyclin receptor
G alpha (s) signalling events0.31
5Adenylate cyclase-activating neuropeptides
Adenylate cyclase-activating neuropeptides

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 EMD Millipore Pathway for MC3R
    Adenylate cyclase-activating neuropeptides


2 BioSystems Pathways for MC3R
    GPCRs, Class A Rhodopsin-like
Peptide GPCRs

5/7        Reactome Pathways for MC3R (see all 7)
    GPCR downstream signaling
Peptide ligand-binding receptors
Signal Transduction
Signaling by GPCR
GPCR ligand binding


1         Kegg Pathway  (Kegg details for MC3R):
    Neuroactive ligand-receptor interaction


MC3R for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MC3R

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/68 Interacting proteins for MC3R (P419683 ENSP000002439114) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
InteractantInteraction Details
GeneCardExternal ID(s)
AGRPO002533, ENSP000002909534I2D: score=1 STRING: ENSP00000290953
ASIPP421273, ENSP000003640924I2D: score=1 STRING: ENSP00000364092
POMCP011893, ENSP000002647084I2D: score=1 STRING: ENSP00000264708
ADCY2ENSP000003429524STRING: ENSP00000342952
ADCY4ENSP000003121264STRING: ENSP00000312126
About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0002027regulation of heart rate IEA--
GO:0007186G-protein coupled receptor signaling pathway ----
GO:0007187G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS8175743
GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA--
GO:0007200phospholipase C-activating G-protein coupled receptor signaling pathway TAS8175743

MC3R for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MC3R for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Compounds for MC3R available from Tocris Bioscience    About this table
CompoundAction CAS #
[D-Trp8]-gamma-MSHSelective MC3 receptor agonist[321351-81-9]
PG 106Selective MC3 receptor antagonist[944111-22-2]
alpha-MSHEndogenous melanocortin receptor agonist[581-05-5]
SHU 9119 MC3 and MC4 antagonist, MC5 partial agonist [168482-23-3]
HS 014Selective MC4 receptor antagonist[207678-81-7]

10/12 IUPHAR Ligands for MC3R (MC3 receptor) (see all 12)    About this table 
LigandTypeActionAffinityPubmed IDs
PG-901
AntagonistAntagonist9.712431055
[125I]NDP-MSH
AgonistFull agonist9.715840392
SHU9119
AntagonistAntagonist8.9 - 9.112007532 7658432 10657491
NDP-MSH
AgonistFull agonist8.910493100
γ-MSH
AgonistFull agonist8.510358030
α-MSH
AgonistFull agonist8 - 8.410358030 10493100
HS024
AntagonistAntagonist8.39832440
MT-II
AgonistFull agonist8.310493100
[D-Trp8]γ-MSH
AgonistFull agonist8.211150170
agouti-related protein
AntagonistInverse agonist7.79819197

10/14 Novoseek inferred chemical compound relationships for MC3R gene (see all 14)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
shu 9119 92.2 10 12851307 (1), 10657491 (1), 12505663 (1), 9751529 (1) (see all 8)
alpha msh 78.9 4 16177130 (1), 9751529 (1), 11511108 (1)
org-2766 75 1 7808440 (1)
acth 68 20 12384937 (3), 19743876 (2), 8584883 (1), 11892914 (1) (see all 14)
acth 4-10 67.3 1 9213373 (1)
cyclic amp 20.9 1 10051117 (1)
corticosterone 15.9 1 9605554 (1)
proline 6.8 1 10405347 (1)
glucose 0.188 3 17192297 (1), 12142547 (1), 11397906 (1)
lipid 0 2 17192297 (1), 15202783 (1)

Search CenterWatch for drugs/clinical trials and news about MC3R

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MC3R gene: 
NM_019888.3  

Unigene Cluster for MC3R:

Melanocortin 3 receptor
Hs.248018  [show with all ESTs]
Unigene Representative Sequence: BC069105
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000243911(uc002xxb.2)
miRNA
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MC3R

Additional mRNA sequence: 

AY227893.1 BC069105.1 BC069591.1 BC069599.1 BC096702.1 BC096737.1 BC098169.1 BC098351.1 

1 DOTS entry:

DT.102819981 

5 AceView cDNA sequences:

BC069599 AY227893 BC069105 NM_019888 BC069591 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MC3R expression in normal human tissues (normalized intensities)      MC3R embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AACTTGGGAT
MC3R Expression
About this image


MC3R expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/2 selected tissues (see all 2) fully expand
 
 Brain (Nervous System)    fully expand to see all 18 entries
         Thalamus
         Substantia Nigra   
 
 Spinal Cord (Nervous System)    fully expand to see all 2 entries
         Dorsal Horn   

See MC3R Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MC3R

SOURCE GeneReport for Unigene cluster: Hs.248018

UniProtKB/Swiss-Prot: MC3R_HUMAN, P41968
Tissue specificity: Brain, placental, and gut tissues

    SABiosciences Expression via Pathway-Focused PCR Arrays including MC3R: 
          G Protein Coupled Receptors 384HT in human mouse rat
          Obesity in human mouse rat

Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MC3R
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MC3R

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MC3R gene from 4/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Mc3r1 , 5 melanocortin 3 receptor1, 5 87.72(n)1
88.85(a)1
  2 (94.80 cM)5
172011  NM_008561.31  NP_032587.11 
 1722484925 
chicken
(Gallus gallus)
Aves LOC1008571641 melanocortin receptor 3-like 74.45(n)
76.95(a)
  100857164  XM_003642473.1  XP_003642521.1 
lizard
(Anolis carolinensis)
Reptilia MC3R6
Uncharacterized protein
72(a)
1 ↔ 1
GL343217.1(2171326-2172213)
zebrafish
(Danio rerio)
Actinopterygii mc3r1 melanocortin 3 receptor 70.27(n)
75.34(a)
  353153  NM_180972.1  NP_851303.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for MC3R gene
CNR12  GPR122  LPAR22  S1PR12  CNR22  S1PR32  S1PR22  LPAR12  
MC1R2  MC5R2  MC2R2  GPR32  MC4R2  S1PR42  GPR62  LPAR32  
S1PR52  
6 SIMAP similar genes for MC3R using alignment to 1 protein entry:     MC3R_HUMAN:
MC4R    LOC441453    MC5R    MC2R    MC1R    LPAR1

MC3R for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: MC3R_HUMAN, P41968
Polymorphism: 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


10/142 SNPs in MC3R are shown (see all 142)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs743153931,2
Cother154793895(+) CACCAA/TCTTTT 2 N I mis10--------
VAR_0550014
----see VAR_0550012 I S mis40--------
VAR_0550004
----see VAR_0550002 I N mis40--------
rs1827841771,2
--54791369(+) TACACA/GCACAT 1 -- us2k10--------
rs1416328591,2
--54791401(+) GATCAC/TTAATT 1 -- us2k10--------
rs2015516341,2
C--54791419(+) AATGT-/GCGTGTG 1 -- us2k10--------
rs61235671,2
C,F,A--54791420(+) AtgtgT/Cgtgtg 1 -- us2k14Minor allele frequency- C:0.43NA WA CSA 7
rs356177521,2
C--54791421(+) TGTGT-/GT/T  
        
AGGGA
1 -- us2k11NA 2
rs60922761,2
C,F,A,H--54791647(+) GTACAG/AGTGTT 1 -- us2k125Minor allele frequency- A:0.36NS EA NA WA CSA 2771
rs1871437211,2
--54791815(+) ACCCTC/TTGCCC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for MC3R (54823788 - 54824871 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for MC3R:    About this table     
Variant IDTypeSubtypePubMed ID
nsv528431CNV Loss19592680


Human Gene Mutation Database (HGMD): MC3R
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing MC3R
DNA2.0 Custom Variant and Variant Library Synthesis for MC3R

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 155540   
OMIM disorders: 602025  607948  
20/21 diseases for MC3R (see all 21):    About MalaCards
tricuspid valve insufficiency    obesity, severe bmiq9    morbid obesity    obesity, early-onset
mycobacterium tuberculosis, protection against    tuberculosis, protection against    obesity, association with    obesity
anorexia nervosa    sleep apnea    mucoepidermoid carcinoma    hyperinsulinism
tuberculosis    autism spectrum disorder    cushing's syndrome    insulin resistance
atopic dermatitis    dermatitis    diabetes mellitus    arthritis

1 disease from the University of Copenhagen DISEASES database for MC3R:
Morbid obesity

MC3R for disorders           About GeneDecksing

8 Novoseek inferred disease relationships for MC3R gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
obesity 63 47 19091795 (4), 11889220 (2), 18551113 (2), 17639020 (2) (see all 22)
arthritis gouty 56.5 3 12384937 (2)
obesity morbid 47.5 2 12532156 (2)
hyperinsulinemia 29.4 1 15636422 (1)
insulin sensitivity 20.8 1 11889220 (1)
insulin resistance 12.4 2 15202783 (1), 18180070 (1)
anorexia nervosa 7.61 1 16314751 (1)
inflammation 0 3 18614155 (1), 10358199 (1)

Genetic Association Database (GAD): MC3R
Human Genome Epidemiology (HuGE) Navigator: MC3R (30 documents)

Export disorders for MC3R gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for MC3R gene, integrated from 9 sources (see all 193):
(articles sorted by number of sources associating them with MC3R)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Sporadic mutations in melanocortin receptor 3 in morbid obese individuals. (PubMed id 18231126)1, 2, 4, 9 Mencarelli M.... Di Blasio A.M. (2008)
  2. A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity. (PubMed id 11889220)1, 2, 4, 9 Lee Y.-S.... Loke K.-Y. (2002)
  3. Molecular cloning of a novel melanocortin receptor. (PubMed id 8463333)1, 2, 3 Gantz I.... Yamada T. (1993)
  4. Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. (PubMed id 19091795)1, 4, 9 Calton M.A....Vaisse C. (2009)
  5. The role of melanocortin 3 receptor gene in childhood obesity. (PubMed id 17639020)1, 4, 9 Lee Y.S....Loke K.Y. (2007)
  6. Co-occurrence of two partially inactivating polymorphisms of MC3R is associated with pediatric-onset obesity. (PubMed id 16123355)1, 4, 9 Feng N....Yanovski J.A. (2005)
  7. Melanocortin-3-receptor gene variants in morbid obesity. (PubMed id 12532156)1, 4, 9 Schalin-Jantti C....Kontula K. (2003)
  8. 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. (PubMed id 17192297)1, 4, 9 Rutanen J....Laakso M. (2007)
  9. Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation. (PubMed id 15292330)1, 2, 9 Tao Y.-X. and Segaloff D.L. (2004)
  10. Energy intake and energy expenditure among children w ith polymorphisms of the melanocortin-3 receptor. (PubMed id 19656839)1, 4, 9 Savastano D.M....Yanovski J.A. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4159 HGNC: 6931 AceView: MC3R Ensembl:ENSG00000124089 euGenes: HUgn4159
ECgene: MC3R Kegg: 4159 H-InvDB: MC3R

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for MC3R Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for MC3R gene:
Search GeneIP for patents involving MC3R

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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