3184 lines
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Entry
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- *155540 - MELANOCORTIN 3 RECEPTOR; MC3R
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*155540</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/155540">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000124089;t=ENST00000243911" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4159" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=155540" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000124089;t=ENST00000243911" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_019888" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_019888" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=155540" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01115&isoform_id=01115_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/MC3R" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/188674,29373117,46575614,47481167,68532425,68532529,68532545,68532614,84661133,119595972,170671732,395398606" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P41968" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=4159" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000124089;t=ENST00000243911" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=MC3R" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=MC3R" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+4159" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/MC3R" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:4159" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4159" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr20&hgg_gene=ENST00000243911.2&hgg_start=56248732&hgg_end=56249815&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=155540[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=155540[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000124089" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=MC3R" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=MC3R" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=MC3R" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MC3R&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA30675" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:6931" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:96929" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/MC3R#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:96929" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4159/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4159" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030502-3" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4159" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=MC3R&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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155540
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MELANOCORTIN 3 RECEPTOR; MC3R
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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MC3 RECEPTOR
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MC3R" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MC3R</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/20/404?start=-3&limit=10&highlight=404">20q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:56248732-56249815&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">20:56,248,732-56,249,815</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/20/404?start=-3&limit=10&highlight=404">
|
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20q13.2
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
{Obesity, severe, susceptibility to, BMIQ9}
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<a href="/entry/602025"> 602025 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/155540" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/155540" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#6" class="mim-tip-reference" title="Gantz, I., Konda, Y., Tashiro, T., Shimoto, Y., Miwa, H., Munzert, G., Watson, S. J., DelValle, J., Yamada, T. <strong>Molecular cloning of a novel melanocortin receptor.</strong> J. Biol. Chem. 268: 8246-8250, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8463333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8463333</a>]" pmid="8463333">Gantz et al. (1993)</a> identified a third melanocortin receptor that recognizes the core heptapeptide sequence of melanocortins. (See <a href="/entry/155555">155555</a> and <a href="/entry/607397">607397</a> for MC1 and MC2, respectively.) This receptor is expressed in the brain, placenta, and gut tissues, but not in the adrenal cortex or melanocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8463333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Cooke, G. S., Campbell, S. J., Bennett, S., Lienhardt, C., McAdam, K. P. W. J., Sirugo, G., Sow, O., Gustafson, P., Mwangulu, F., van Helden, P., Fine, P., Hoal, E. G., Hill, A. V. S. <strong>Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis.</strong> Am. J. Resp. Crit. Care Med. 178: 203-207, 2008. Note: Erratum: Am. J. Resp. Crit. Care Med. 179: 624 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18420963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18420963</a>] [<a href="https://doi.org/10.1164/rccm.200710-1554OC" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18420963">Cooke et al. (2008)</a> noted that the 361-amino acid MC3R protein is a G protein-coupled receptor with 7 transmembrane domains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18420963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Tarnow, P., Rediger, A., Schulz, A., Gruters, A., Bierbermann, H. <strong>Identification of the translation start site of the human melanocortin 3 receptor.</strong> Obes. Facts 5: 45-51, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22433616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22433616</a>] [<a href="https://doi.org/10.1159/000336070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22433616">Tarnow et al. (2012)</a> found that translation of MC3R preferentially occurred at the second in-frame ATG codon, resulting in a deduced 323-amino acid protein. The second ATG codon, but not the first, is evolutionarily conserved. Transfection studies in COS-7 cells demonstrated that use of the second ATG codon resulted in a membrane protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22433616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Park, J., Sharma, N., Cutting, G. R. <strong>Melanocortin 3 receptor has a 5-prime exon that directs translation of apically localized protein from the second in-frame ATG.</strong> Molec. Endocr. 28: 1547-1557, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25051171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25051171</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25051171[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/me.2014-1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25051171">Park et al. (2014)</a> determined that the first noncoding exon of MC3R directed translation of human MC3R from the second conserved ATG codon. The deduced 323-amino acid protein was expressed as a membrane protein. In transfected polarized MDCK canine kidney cells, MC3R localized to or adjacent to the apical membrane. Experimental lack of exon 1 resulted in MC3R expression initiating from the first and nonconserved ATG codon, producing a 360-amino acid protein with aberrant localization in the cytoplasm. <a href="#15" class="mim-tip-reference" title="Park, J., Sharma, N., Cutting, G. R. <strong>Melanocortin 3 receptor has a 5-prime exon that directs translation of apically localized protein from the second in-frame ATG.</strong> Molec. Endocr. 28: 1547-1557, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25051171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25051171</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25051171[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/me.2014-1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25051171">Park et al. (2014)</a> hypothesized that the first ATG may be associated with an upstream ORF that regulates expression of the main ORF from the second ATG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25051171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Cooke, G. S., Campbell, S. J., Bennett, S., Lienhardt, C., McAdam, K. P. W. J., Sirugo, G., Sow, O., Gustafson, P., Mwangulu, F., van Helden, P., Fine, P., Hoal, E. G., Hill, A. V. S. <strong>Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis.</strong> Am. J. Resp. Crit. Care Med. 178: 203-207, 2008. Note: Erratum: Am. J. Resp. Crit. Care Med. 179: 624 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18420963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18420963</a>] [<a href="https://doi.org/10.1164/rccm.200710-1554OC" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18420963">Cooke et al. (2008)</a> stated that the MC3R gene contains 1 coding exon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18420963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Park, J., Sharma, N., Cutting, G. R. <strong>Melanocortin 3 receptor has a 5-prime exon that directs translation of apically localized protein from the second in-frame ATG.</strong> Molec. Endocr. 28: 1547-1557, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25051171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25051171</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25051171[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/me.2014-1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25051171">Park et al. (2014)</a> determined that the MC3R gene has 2 exons and spans at least 1.6 kb. The first exon is noncoding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25051171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Gantz, I., Tashiro, T., Barcroft, C., Konda, Y., Shimoto, Y., Miwa, H., Glover, T., Munzert, G., Yamada, T. <strong>Localization of the genes encoding the melanocortin-2 (adrenocorticotropic hormone) and melanocortin-3 receptors to chromosomes 18p11.2 and 20q13.2-q13.3 by fluorescence in situ hybridization.</strong> Genomics 18: 166-167, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8276410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8276410</a>] [<a href="https://doi.org/10.1006/geno.1993.1448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8276410">Gantz et al. (1993)</a> mapped the MC3R gene to chromosome 20q13.2-q13.3 by fluorescence in situ hybridization. By fluorescence in situ hybridization, <a href="#11" class="mim-tip-reference" title="Magenis, R. E., Smith, L., Nadeau, J. H., Johnson, K. R., Mountjoy, K. G., Cone, R. D. <strong>Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human.</strong> Mammalian Genome 5: 503-508, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7949735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7949735</a>] [<a href="https://doi.org/10.1007/BF00369320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7949735">Magenis et al. (1994)</a> assigned the MC3R gene to 20q13.2; they assigned the homologous gene in the mouse to chromosome 2 by study of an intersubspecific backcross mapping panel. It is noteworthy that the gene for this neural receptor maps to the same region as the locus for benign neonatal epilepsy (EBN1; <a href="/entry/121200">121200</a>) in the human and near the El-2 epilepsy susceptibility locus in the mouse. Through study of an interspecific backcross, <a href="#12" class="mim-tip-reference" title="Malas, S., Peters, J., Abbott, C. <strong>The genes for endothelin 3, vitamin D 24-hydroxylase, and melanocortin 3 receptor map to distal mouse chromosome 2, in the region of conserved synteny with human chromosome 20.</strong> Mammalian Genome 5: 577-579, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8000144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8000144</a>] [<a href="https://doi.org/10.1007/BF00354934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8000144">Malas et al. (1994)</a> also demonstrated that the mouse homolog maps to chromosome 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8000144+8276410+7949735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Heisler, L. K., Cowley, M. A., Tecott, L. H., Fan, W., Low, M. J., Smart, J. L., Rubinstein, M., Tatro, J. B., Marcus, J. N., Holstege, H., Lee, C. E., Cone, R. D., Elmquist, J. K. <strong>Activation of central melanocortin pathways by fenfluramine.</strong> Science 297: 609-611, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12142539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12142539</a>] [<a href="https://doi.org/10.1126/science.1072327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12142539">Heisler et al. (2002)</a> found that genetic or pharmacologic blockade of MC4R (<a href="/entry/155541">155541</a>) and MC3R is sufficient to attenuate the anorectic efficacy of threshold doses of d-FEN (D-fenfluramine), suggesting that drugs targeting these downstream melanocortin pathways may act in part in a manner similar to d-FEN to decrease food intake and body weight with fewer side effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12142539" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Tarnow, P., Rediger, A., Schulz, A., Gruters, A., Bierbermann, H. <strong>Identification of the translation start site of the human melanocortin 3 receptor.</strong> Obes. Facts 5: 45-51, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22433616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22433616</a>] [<a href="https://doi.org/10.1159/000336070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22433616">Tarnow et al. (2012)</a> found that MC3R that was translated from the second ATG codon, but not the first ATG codon, was expressed at the cell membrane in COS-7 cells and generated cAMP in response to NDP-alpha-MSH stimulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22433616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Park, J., Sharma, N., Cutting, G. R. <strong>Melanocortin 3 receptor has a 5-prime exon that directs translation of apically localized protein from the second in-frame ATG.</strong> Molec. Endocr. 28: 1547-1557, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25051171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25051171</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25051171[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/me.2014-1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25051171">Park et al. (2014)</a> found that, in the absence of MC3R, the accessory protein MRAP2 (<a href="/entry/615410">615410</a>) localized to the cytoplasm in polarized MDCK cells. When coexpressed, MC3R and MRAP2 localized to apical membranes, where they partially overlapped. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25051171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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In a 13-year-old obese (see BMIQ9; <a href="/entry/602025">602025</a>) girl and her father, <a href="#10" class="mim-tip-reference" title="Lee, Y.-S., Poh, L. K.-S., Loke, K.-Y. <strong>A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity.</strong> J. Clin. Endocr. Metab. 87: 1423-1426, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11889220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11889220</a>] [<a href="https://doi.org/10.1210/jcem.87.3.8461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11889220">Lee et al. (2002)</a> identified a heterozygous mutation (I183N; <a href="#0001">155540.0001</a>) in the MC3R gene. Functional characterization of the I183N mutant by <a href="#18" class="mim-tip-reference" title="Tao, Y.-X., Segaloff, D. L. <strong>Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation.</strong> J. Clin. Endocr. Metab. 89: 3936-3942, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15292330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15292330</a>] [<a href="https://doi.org/10.1210/jc.2004-0367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15292330">Tao and Segaloff (2004)</a> showed a complete lack of signaling in response to agonist stimulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11889220+15292330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Mencarelli, M., Walker, G. E., Maestrini, S., Alberti, L., Verti, B., Brunani, A., Petroni, M. L., Tagliaferri, M., Liuzzi, A., Di Blasio, A. M. <strong>Sporadic mutations in melanocortin receptor 3 in morbid obese individuals.</strong> Europ. J. Hum. Genet. 16: 581-586, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18231126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18231126</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5202005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18231126">Mencarelli et al. (2008)</a> sequenced the MC3R gene in 290 obese individuals and 215 normal-weight controls and identified 3 heterozygous mutations present in 3 obese individuals, respectively, that were not present in controls (see, e.g., <a href="#0002">155540.0002</a>). Although there were only a limited number of family members available for study, there appeared to be cosegregation of the mutations with the obese phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18231126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Familial genetic studies of noninsulin-dependent diabetes mellitus (NIDDM; <a href="/entry/125853">125853</a>) of different human populations, including French Caucasians, suggested evidence for linkage of NIDDM and chromosome 20q13 (see <a href="/entry/603694">603694</a>), where the MC3R gene maps. <a href="#8" class="mim-tip-reference" title="Hani, E. H., Dupont, S., Durand, E., Dina, C., Gallina, S., Gantz, I., Froguel, P. <strong>Naturally occurring mutations in the melanocortin receptor 3 gene are not associated with type 2 diabetes mellitus in French Caucasians.</strong> J. Clin. Endocr. Metab. 86: 2895-2898, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11397906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11397906</a>] [<a href="https://doi.org/10.1210/jcem.86.6.7589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11397906">Hani et al. (2001)</a> assessed the MC3R gene for variations in a large cohort of French families with NIDDM and identified thr6-to-lys (T6L) and val81-to-ile (V81I) variants in the MC3R gene. These 2 variants, which were in complete linkage disequilibrium, were also present in nondiabetic controls. Based on association and familial linkage disequilibrium test results, the authors stated that these MC3R gene-coding variants were not associated with diabetes or obesity. <a href="#8" class="mim-tip-reference" title="Hani, E. H., Dupont, S., Durand, E., Dina, C., Gallina, S., Gantz, I., Froguel, P. <strong>Naturally occurring mutations in the melanocortin receptor 3 gene are not associated with type 2 diabetes mellitus in French Caucasians.</strong> J. Clin. Endocr. Metab. 86: 2895-2898, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11397906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11397906</a>] [<a href="https://doi.org/10.1210/jcem.86.6.7589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11397906">Hani et al. (2001)</a> concluded that these variants were marginally associated with insulin and glucose levels during oral glucose tolerance testing in normoglycemic subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11397906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Feng, N., Young, S. F., Aguilera, G., Puricelli, E., Adler-Wailes, D. C., Sebring, N. G., Yanovski, J. A. <strong>Co-occurrence of two partially inactivating polymorphisms of MC3R is associated with pediatric-onset obesity.</strong> Diabetes 54: 2663-2667, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16123355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16123355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16123355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.2337/diabetes.54.9.2663" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16123355">Feng et al. (2005)</a> analyzed the MC3R gene in 190 overweight and 160 nonoverweight children and found that 29 (8.2%) children were double homozygous for T6L and V81I variants. The double homozygous children (lys/lys and ile/ile) were significantly heavier (p less than 0.0001), had more body fat (p less than 0.001), and had greater plasma leptin (p less than 0.0001) and insulin concentrations (p less than 0.001) and greater insulin resistance (p less than 0.008) than wildtype or heterozygous children. Both sequence variants were more common in African American than in Caucasian children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16123355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Rutanen, J., Pihlajamaki, J., Vanttinen, M., Salmenniemi, U., Ruotsalainen, E., Kuulasmaa, T., Kainulainen, S., Laakso, M. <strong>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.</strong> J. Clin. Endocr. Metab. 92: 1112-1117, 2007. Note: Erratum J. Clin. Endocr. Metab. 93: 1506 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17192297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17192297</a>] [<a href="https://doi.org/10.1210/jc.2006-1201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17192297">Rutanen et al. (2007)</a> studied the T6L and V81I MC3R polymorphisms in a cross-sectional study of 216 middle-aged nondiabetic Finnish subjects who were offspring of type 2 diabetic patients. Carriers of the lys6 and ile81 alleles had significantly lower rates of lipid oxidation and higher rates of glucose oxidation in the fasting state than subjects with the thr/thr6 and val/val81 genotypes. <a href="#17" class="mim-tip-reference" title="Rutanen, J., Pihlajamaki, J., Vanttinen, M., Salmenniemi, U., Ruotsalainen, E., Kuulasmaa, T., Kainulainen, S., Laakso, M. <strong>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.</strong> J. Clin. Endocr. Metab. 92: 1112-1117, 2007. Note: Erratum J. Clin. Endocr. Metab. 93: 1506 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17192297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17192297</a>] [<a href="https://doi.org/10.1210/jc.2006-1201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17192297">Rutanen et al. (2007)</a> concluded that SNPs of MC3R may regulate substrate oxidation and first-phase insulin secretion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17192297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Tarnow, P., Rediger, A., Schulz, A., Gruters, A., Bierbermann, H. <strong>Identification of the translation start site of the human melanocortin 3 receptor.</strong> Obes. Facts 5: 45-51, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22433616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22433616</a>] [<a href="https://doi.org/10.1159/000336070" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22433616">Tarnow et al. (2012)</a> reported that translation of MC3R preferentially occurs at the second in-frame ATG codon. The N-terminally truncated protein would lack thr6, making variation at this position unlikely to influence protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22433616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using genomewide linkage and positional mapping of tuberculosis-affected sib pairs in South Africans of mixed racial origin and in Africans from northern Malawi, <a href="#2" class="mim-tip-reference" title="Cooke, G. S., Campbell, S. J., Bennett, S., Lienhardt, C., McAdam, K. P. W. J., Sirugo, G., Sow, O., Gustafson, P., Mwangulu, F., van Helden, P., Fine, P., Hoal, E. G., Hill, A. V. S. <strong>Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis.</strong> Am. J. Resp. Crit. Care Med. 178: 203-207, 2008. Note: Erratum: Am. J. Resp. Crit. Care Med. 179: 624 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18420963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18420963</a>] [<a href="https://doi.org/10.1164/rccm.200710-1554OC" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18420963">Cooke et al. (2008)</a> identified a novel putative tuberculosis susceptibility locus on chromosome 20q13.31-q33 (MTBS3; <a href="/entry/612929">612929</a>). Detailed SNP mapping of chromosome 20q13.31-q33 in a case-control study of West African subjects revealed evidence of disease association with SNPs in the MC3R and CTSZ (<a href="/entry/603169">603169</a>) genes. Homozygosity for the A allele of a +241G-A SNP in the MC3R gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3827103;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3827103</a>), which produces the V81I substitution in the protein (<a href="#3" class="mim-tip-reference" title="Cooke, G. S. <strong>Personal Communication.</strong> KwaZulu-Natal, South Africa 5/26/2009."None>Cooke, 2009</a>), conferred resistance to tuberculosis. In contrast, homozygosity for the C allele of a T-C SNP in the 3-prime UTR of the CTSZ gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34069356;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs34069356</a>) was associated with susceptibility to tuberculosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18420963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Genetic and pharmacologic studies defined a role for MC4R in the regulation of energy homeostasis. MC3R is expressed at high levels in the hypothalamus. <a href="#1" class="mim-tip-reference" title="Chen, A. S., Marsh, D. J., Trumbauer, M. E., Frazier, E. G., Guan, X.-M., Yu, H., Rosenblum, C. I., Vongs, A., Feng, Y., Cao, L., Metzger, J. M., Strack, A. M., and 9 others. <strong>Inactivation of the mouse melanocortin-3 receptor results in increased fat mass and reduced lean body mass.</strong> Nature Genet. 26: 97-102, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973258</a>] [<a href="https://doi.org/10.1038/79254" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973258">Chen et al. (2000)</a> evaluated the potential role of MC3R in energy homeostasis by studying Mc3r-deficient (Mc3r -/-) mice and compared the functions of Mc3r and Mc4r in mice deficient for both genes. At the age of 4 to 6 months, Mc3r -/- mice had increased fat mass, reduced lean mass, and higher feed efficiency than wildtype littermates, despite being hypophagic and maintaining normal metabolic rates. (Feed efficiency is the ratio of weight gain to food intake.) Consistent with increased fat mass, Mc3r -/- mice were hyperleptinemic, and male Mc3r -/- mice developed mild hyperinsulinemia. They did not show significantly altered corticosterone or total thyroxine (T4) levels. Mice lacking both Mc3r and Mc4r became significantly heavier than Mc4r -/- mice. <a href="#1" class="mim-tip-reference" title="Chen, A. S., Marsh, D. J., Trumbauer, M. E., Frazier, E. G., Guan, X.-M., Yu, H., Rosenblum, C. I., Vongs, A., Feng, Y., Cao, L., Metzger, J. M., Strack, A. M., and 9 others. <strong>Inactivation of the mouse melanocortin-3 receptor results in increased fat mass and reduced lean body mass.</strong> Nature Genet. 26: 97-102, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973258</a>] [<a href="https://doi.org/10.1038/79254" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973258">Chen et al. (2000)</a> concluded that Mc3r and Mc4r serve nonredundant roles in the regulation of energy homeostasis. <a href="#4" class="mim-tip-reference" title="Cummings, D. E., Schwartz, M. W. <strong>Melanocortins and body weight: a tale of two receptors.</strong> Nature Genet. 26: 8-9, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973234</a>] [<a href="https://doi.org/10.1038/79223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973234">Cummings and Schwartz (2000)</a> showed that these studies demonstrated that the 2 melanocortin receptor isoforms reduce body weight through distinct and complementary mechanisms. Mc4r regulates food intake and possibly energy expenditure, whereas Mc3r influences feed efficiency and the petitioning of fuel stores into fat. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10973258+10973234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 13-year-old obese girl (BMIQ9; <a href="/entry/602025">602025</a>) and her father, <a href="#10" class="mim-tip-reference" title="Lee, Y.-S., Poh, L. K.-S., Loke, K.-Y. <strong>A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity.</strong> J. Clin. Endocr. Metab. 87: 1423-1426, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11889220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11889220</a>] [<a href="https://doi.org/10.1210/jcem.87.3.8461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11889220">Lee et al. (2002)</a> identified a 548T-A transversion, resulting in an ile183-to-asn (I183N) substitution. The MC3R gene was sequenced in 41 unrelated obese children, and 121 DNA samples from nonobese individuals were analyzed for this novel sequence variant by allele-specific PCR. The I183N mutation was found only in the proband and her father, though all 4 family members were obese. The sequence variant was not found in 121 control samples. The proband had a high percentage of body fat (49%), but the father had only 30%. There were no distinguishing phenotypic features. Insulin sensitivity was significantly higher compared to the 40 other obese subjects without MC3R gene mutations. <a href="#10" class="mim-tip-reference" title="Lee, Y.-S., Poh, L. K.-S., Loke, K.-Y. <strong>A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity.</strong> J. Clin. Endocr. Metab. 87: 1423-1426, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11889220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11889220</a>] [<a href="https://doi.org/10.1210/jcem.87.3.8461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11889220">Lee et al. (2002)</a> concluded that differences between phenotypes of the 2 related heterozygotes, and the observation of obesity in other family members without the mutation suggests that obesity results from a varying combination of environmental, behavioral, and multiple genetic factors, even within the same family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11889220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Tao, Y.-X., Segaloff, D. L. <strong>Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation.</strong> J. Clin. Endocr. Metab. 89: 3936-3942, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15292330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15292330</a>] [<a href="https://doi.org/10.1210/jc.2004-0367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15292330">Tao and Segaloff (2004)</a> reported that the I183N mutation completely lacks signaling in response to agonist stimulation, although it binds ligand with normal affinity and with only slightly decreased capacity. Coexpression of the wildtype and I183N MC3Rs showed that I183N does not exert dominant-negative activity on wildtype MC3R. The authors concluded that these results provided support for the hypothesis that MC3R mutation might be a genetic factor that confers susceptibility to obesity, likely due to haploinsufficiency. Further mutations at I183 revealed a discrete requirement for I183 in agonist-induced MC3R activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15292330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By expression in HEK293 cells, <a href="#16" class="mim-tip-reference" title="Rached, M., Buronfosse, A., Begeot, M., Penhoat, A. <strong>Inactivation and intracellular retention of the human I183N mutated melanocortin 3 receptor associated with obesity.</strong> Biochim. Biophys. Acta 1689: 229-234, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15276649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15276649</a>] [<a href="https://doi.org/10.1016/j.bbadis.2004.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15276649">Rached et al. (2004)</a> found that the I183N mutation abolished the cAMP response of MC3R to NDP-MSH stimulation. Coexpression of wildtype protein with increasing concentrations of mutant MC3R demonstrated that the I183N mutation exerts a dominant-negative effect. Confocal microscopy revealed that fluorescence-tagged wildtype, but not mutant, MC3R was expressed at the plasma membrane and in a perinuclear position. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15276649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 OBESITY (BMIQ9), SUSCEPTIBILITY TO</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913556 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913556;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913556?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022658" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022658" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022658</a>
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<p>In a 56-year-old woman with a BMI of 39 (BMIQ9; <a href="/entry/602025">602025</a>), <a href="#14" class="mim-tip-reference" title="Mencarelli, M., Walker, G. E., Maestrini, S., Alberti, L., Verti, B., Brunani, A., Petroni, M. L., Tagliaferri, M., Liuzzi, A., Di Blasio, A. M. <strong>Sporadic mutations in melanocortin receptor 3 in morbid obese individuals.</strong> Europ. J. Hum. Genet. 16: 581-586, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18231126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18231126</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5202005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18231126">Mencarelli et al. (2008)</a> identified heterozygosity for a 1004T-G transversion in the MC3R gene, resulting in an ile335-to-ser (I335S) substitution at a highly conserved region. Her 57-year-old brother, who was also heterozygous for the mutation, had a history of early-onset obesity and strong resistance to losing weight despite continuous dieting; in contrast, her 62-year-old sister who did not carry the mutation had a BMI of 26 and no history of obesity. In vitro expression studies demonstrated that the I335S mutation causes complete loss of function. I335S-transfected COS-7 cells showed diffuse cytoplasmic staining, indicating intracellular retention of the receptor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18231126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Mencarelli , M., Dubern, B., Alili, R., Maestrini, S., Benajiba, L., Tagliaferri, M., Galan, P., Rinaldi, M., Simon, C., Tounian, P., Hercberg, S., Liuzzi, A., Di Blasio, A. M., Clement, K. <strong>Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity.</strong> Hum. Molec. Genet. 20: 392-399, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21047972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21047972</a>] [<a href="https://doi.org/10.1093/hmg/ddq472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21047972">Mencarelli et al. (2011)</a> identified heterozygosity for the I335S mutation in 2 Caucasian patients with obesity, 1 French and 1 Italian. In vitro functional analysis demonstrated that the I335S mutation resulted in complete inactivation of the receptor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21047972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Chen2000" class="mim-anchor"></a>
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Chen, A. S., Marsh, D. J., Trumbauer, M. E., Frazier, E. G., Guan, X.-M., Yu, H., Rosenblum, C. I., Vongs, A., Feng, Y., Cao, L., Metzger, J. M., Strack, A. M., and 9 others.
|
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<strong>Inactivation of the mouse melanocortin-3 receptor results in increased fat mass and reduced lean body mass.</strong>
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Nature Genet. 26: 97-102, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973258</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/79254" target="_blank">Full Text</a>]
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Cooke, G. S., Campbell, S. J., Bennett, S., Lienhardt, C., McAdam, K. P. W. J., Sirugo, G., Sow, O., Gustafson, P., Mwangulu, F., van Helden, P., Fine, P., Hoal, E. G., Hill, A. V. S.
|
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<strong>Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis.</strong>
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Am. J. Resp. Crit. Care Med. 178: 203-207, 2008. Note: Erratum: Am. J. Resp. Crit. Care Med. 179: 624 only, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18420963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18420963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18420963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1164/rccm.200710-1554OC" target="_blank">Full Text</a>]
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Cooke, G. S.
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<strong>Personal Communication.</strong>
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KwaZulu-Natal, South Africa 5/26/2009.
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Cummings, D. E., Schwartz, M. W.
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<strong>Melanocortins and body weight: a tale of two receptors.</strong>
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Nature Genet. 26: 8-9, 2000.
|
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/79223" target="_blank">Full Text</a>]
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Feng, N., Young, S. F., Aguilera, G., Puricelli, E., Adler-Wailes, D. C., Sebring, N. G., Yanovski, J. A.
|
|
<strong>Co-occurrence of two partially inactivating polymorphisms of MC3R is associated with pediatric-onset obesity.</strong>
|
|
Diabetes 54: 2663-2667, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16123355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16123355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16123355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16123355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.2337/diabetes.54.9.2663" target="_blank">Full Text</a>]
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Gantz, I., Konda, Y., Tashiro, T., Shimoto, Y., Miwa, H., Munzert, G., Watson, S. J., DelValle, J., Yamada, T.
|
|
<strong>Molecular cloning of a novel melanocortin receptor.</strong>
|
|
J. Biol. Chem. 268: 8246-8250, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8463333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8463333</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8463333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gantz, I., Tashiro, T., Barcroft, C., Konda, Y., Shimoto, Y., Miwa, H., Glover, T., Munzert, G., Yamada, T.
|
|
<strong>Localization of the genes encoding the melanocortin-2 (adrenocorticotropic hormone) and melanocortin-3 receptors to chromosomes 18p11.2 and 20q13.2-q13.3 by fluorescence in situ hybridization.</strong>
|
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Genomics 18: 166-167, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8276410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8276410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8276410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1448" target="_blank">Full Text</a>]
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|
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|
|
|
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|
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|
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Hani, E. H., Dupont, S., Durand, E., Dina, C., Gallina, S., Gantz, I., Froguel, P.
|
|
<strong>Naturally occurring mutations in the melanocortin receptor 3 gene are not associated with type 2 diabetes mellitus in French Caucasians.</strong>
|
|
J. Clin. Endocr. Metab. 86: 2895-2898, 2001.
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|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11397906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11397906</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11397906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem.86.6.7589" target="_blank">Full Text</a>]
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Heisler, L. K., Cowley, M. A., Tecott, L. H., Fan, W., Low, M. J., Smart, J. L., Rubinstein, M., Tatro, J. B., Marcus, J. N., Holstege, H., Lee, C. E., Cone, R. D., Elmquist, J. K.
|
|
<strong>Activation of central melanocortin pathways by fenfluramine.</strong>
|
|
Science 297: 609-611, 2002.
|
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12142539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12142539</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12142539" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1072327" target="_blank">Full Text</a>]
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Lee, Y.-S., Poh, L. K.-S., Loke, K.-Y.
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<strong>A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity.</strong>
|
|
J. Clin. Endocr. Metab. 87: 1423-1426, 2002.
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|
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11889220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11889220</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11889220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem.87.3.8461" target="_blank">Full Text</a>]
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</p>
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<a id="11" class="mim-anchor"></a>
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<a id="Magenis1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Magenis, R. E., Smith, L., Nadeau, J. H., Johnson, K. R., Mountjoy, K. G., Cone, R. D.
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<strong>Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human.</strong>
|
|
Mammalian Genome 5: 503-508, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7949735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7949735</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7949735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00369320" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Malas1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Malas, S., Peters, J., Abbott, C.
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<strong>The genes for endothelin 3, vitamin D 24-hydroxylase, and melanocortin 3 receptor map to distal mouse chromosome 2, in the region of conserved synteny with human chromosome 20.</strong>
|
|
Mammalian Genome 5: 577-579, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8000144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8000144</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8000144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00354934" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Mencarelli 2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mencarelli , M., Dubern, B., Alili, R., Maestrini, S., Benajiba, L., Tagliaferri, M., Galan, P., Rinaldi, M., Simon, C., Tounian, P., Hercberg, S., Liuzzi, A., Di Blasio, A. M., Clement, K.
|
|
<strong>Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity.</strong>
|
|
Hum. Molec. Genet. 20: 392-399, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21047972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21047972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21047972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddq472" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Mencarelli2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mencarelli, M., Walker, G. E., Maestrini, S., Alberti, L., Verti, B., Brunani, A., Petroni, M. L., Tagliaferri, M., Liuzzi, A., Di Blasio, A. M.
|
|
<strong>Sporadic mutations in melanocortin receptor 3 in morbid obese individuals.</strong>
|
|
Europ. J. Hum. Genet. 16: 581-586, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18231126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18231126</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18231126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5202005" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Park2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Park, J., Sharma, N., Cutting, G. R.
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<strong>Melanocortin 3 receptor has a 5-prime exon that directs translation of apically localized protein from the second in-frame ATG.</strong>
|
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Molec. Endocr. 28: 1547-1557, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25051171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25051171</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25051171[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25051171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/me.2014-1105" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Rached2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rached, M., Buronfosse, A., Begeot, M., Penhoat, A.
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<strong>Inactivation and intracellular retention of the human I183N mutated melanocortin 3 receptor associated with obesity.</strong>
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Biochim. Biophys. Acta 1689: 229-234, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15276649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15276649</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15276649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.bbadis.2004.03.009" target="_blank">Full Text</a>]
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Rutanen2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rutanen, J., Pihlajamaki, J., Vanttinen, M., Salmenniemi, U., Ruotsalainen, E., Kuulasmaa, T., Kainulainen, S., Laakso, M.
|
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<strong>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.</strong>
|
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J. Clin. Endocr. Metab. 92: 1112-1117, 2007. Note: Erratum J. Clin. Endocr. Metab. 93: 1506 only, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17192297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17192297</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17192297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jc.2006-1201" target="_blank">Full Text</a>]
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Tao2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tao, Y.-X., Segaloff, D. L.
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<strong>Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation.</strong>
|
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J. Clin. Endocr. Metab. 89: 3936-3942, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15292330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15292330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15292330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jc.2004-0367" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Tarnow2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tarnow, P., Rediger, A., Schulz, A., Gruters, A., Bierbermann, H.
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<strong>Identification of the translation start site of the human melanocortin 3 receptor.</strong>
|
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Obes. Facts 5: 45-51, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22433616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22433616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22433616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000336070" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 10/13/2016
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 5/8/2013<br>Paul J. Converse - updated : 7/7/2009<br>Marla J. F. O'Neill - updated : 12/19/2008<br>John A. Phillips, III - updated : 2/13/2008<br>John A. Phillips, III - updated : 7/27/2005<br>John A. Phillips, III - updated : 8/9/2002<br>Ada Hamosh - updated : 8/7/2002<br>John A. Phillips, III - updated : 9/26/2001<br>Victor A. McKusick - updated : 8/29/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/1/1993
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</span>
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</div>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/13/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/02/2023<br>alopez : 10/13/2016<br>carol : 10/11/2016<br>alopez : 11/11/2015<br>carol : 5/8/2013<br>carol : 6/20/2012<br>mgross : 7/27/2009<br>mgross : 7/9/2009<br>terry : 7/7/2009<br>wwang : 12/30/2008<br>terry : 12/19/2008<br>carol : 2/13/2008<br>alopez : 7/27/2005<br>cwells : 8/9/2002<br>alopez : 8/8/2002<br>terry : 8/7/2002<br>cwells : 9/26/2001<br>cwells : 9/26/2001<br>alopez : 8/30/2000<br>alopez : 8/30/2000<br>terry : 8/29/2000<br>terry : 8/29/2000<br>dkim : 7/2/1998<br>alopez : 6/2/1997<br>terry : 9/22/1994<br>carol : 9/1/1994<br>carol : 10/15/1993<br>carol : 10/5/1993<br>carol : 10/1/1993
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</span>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 155540
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MELANOCORTIN 3 RECEPTOR; MC3R
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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MC3 RECEPTOR
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MC3R</em></strong>
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</span>
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</p>
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</div>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 20q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 20:56,248,732-56,249,815 </span>
|
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td rowspan="1">
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<span class="mim-font">
|
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20q13.2
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Obesity, severe, susceptibility to, BMIQ9}
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</span>
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</td>
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<td>
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<span class="mim-font">
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602025
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</span>
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</td>
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<td>
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<span class="mim-font">
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<span class="mim-font">
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3
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</tr>
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</tbody>
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</table>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gantz et al. (1993) identified a third melanocortin receptor that recognizes the core heptapeptide sequence of melanocortins. (See 155555 and 607397 for MC1 and MC2, respectively.) This receptor is expressed in the brain, placenta, and gut tissues, but not in the adrenal cortex or melanocytes. </p><p>Cooke et al. (2008) noted that the 361-amino acid MC3R protein is a G protein-coupled receptor with 7 transmembrane domains. </p><p>Tarnow et al. (2012) found that translation of MC3R preferentially occurred at the second in-frame ATG codon, resulting in a deduced 323-amino acid protein. The second ATG codon, but not the first, is evolutionarily conserved. Transfection studies in COS-7 cells demonstrated that use of the second ATG codon resulted in a membrane protein. </p><p>Park et al. (2014) determined that the first noncoding exon of MC3R directed translation of human MC3R from the second conserved ATG codon. The deduced 323-amino acid protein was expressed as a membrane protein. In transfected polarized MDCK canine kidney cells, MC3R localized to or adjacent to the apical membrane. Experimental lack of exon 1 resulted in MC3R expression initiating from the first and nonconserved ATG codon, producing a 360-amino acid protein with aberrant localization in the cytoplasm. Park et al. (2014) hypothesized that the first ATG may be associated with an upstream ORF that regulates expression of the main ORF from the second ATG. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cooke et al. (2008) stated that the MC3R gene contains 1 coding exon. </p><p>Park et al. (2014) determined that the MC3R gene has 2 exons and spans at least 1.6 kb. The first exon is noncoding. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gantz et al. (1993) mapped the MC3R gene to chromosome 20q13.2-q13.3 by fluorescence in situ hybridization. By fluorescence in situ hybridization, Magenis et al. (1994) assigned the MC3R gene to 20q13.2; they assigned the homologous gene in the mouse to chromosome 2 by study of an intersubspecific backcross mapping panel. It is noteworthy that the gene for this neural receptor maps to the same region as the locus for benign neonatal epilepsy (EBN1; 121200) in the human and near the El-2 epilepsy susceptibility locus in the mouse. Through study of an interspecific backcross, Malas et al. (1994) also demonstrated that the mouse homolog maps to chromosome 2. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Heisler et al. (2002) found that genetic or pharmacologic blockade of MC4R (155541) and MC3R is sufficient to attenuate the anorectic efficacy of threshold doses of d-FEN (D-fenfluramine), suggesting that drugs targeting these downstream melanocortin pathways may act in part in a manner similar to d-FEN to decrease food intake and body weight with fewer side effects. </p><p>Tarnow et al. (2012) found that MC3R that was translated from the second ATG codon, but not the first ATG codon, was expressed at the cell membrane in COS-7 cells and generated cAMP in response to NDP-alpha-MSH stimulation. </p><p>Park et al. (2014) found that, in the absence of MC3R, the accessory protein MRAP2 (615410) localized to the cytoplasm in polarized MDCK cells. When coexpressed, MC3R and MRAP2 localized to apical membranes, where they partially overlapped. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Body Mass Index Quantitative Trait Locus 9</em></strong></p><p>
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In a 13-year-old obese (see BMIQ9; 602025) girl and her father, Lee et al. (2002) identified a heterozygous mutation (I183N; 155540.0001) in the MC3R gene. Functional characterization of the I183N mutant by Tao and Segaloff (2004) showed a complete lack of signaling in response to agonist stimulation. </p><p>Mencarelli et al. (2008) sequenced the MC3R gene in 290 obese individuals and 215 normal-weight controls and identified 3 heterozygous mutations present in 3 obese individuals, respectively, that were not present in controls (see, e.g., 155540.0002). Although there were only a limited number of family members available for study, there appeared to be cosegregation of the mutations with the obese phenotype. </p><p>Familial genetic studies of noninsulin-dependent diabetes mellitus (NIDDM; 125853) of different human populations, including French Caucasians, suggested evidence for linkage of NIDDM and chromosome 20q13 (see 603694), where the MC3R gene maps. Hani et al. (2001) assessed the MC3R gene for variations in a large cohort of French families with NIDDM and identified thr6-to-lys (T6L) and val81-to-ile (V81I) variants in the MC3R gene. These 2 variants, which were in complete linkage disequilibrium, were also present in nondiabetic controls. Based on association and familial linkage disequilibrium test results, the authors stated that these MC3R gene-coding variants were not associated with diabetes or obesity. Hani et al. (2001) concluded that these variants were marginally associated with insulin and glucose levels during oral glucose tolerance testing in normoglycemic subjects. </p><p>Feng et al. (2005) analyzed the MC3R gene in 190 overweight and 160 nonoverweight children and found that 29 (8.2%) children were double homozygous for T6L and V81I variants. The double homozygous children (lys/lys and ile/ile) were significantly heavier (p less than 0.0001), had more body fat (p less than 0.001), and had greater plasma leptin (p less than 0.0001) and insulin concentrations (p less than 0.001) and greater insulin resistance (p less than 0.008) than wildtype or heterozygous children. Both sequence variants were more common in African American than in Caucasian children. </p><p>Rutanen et al. (2007) studied the T6L and V81I MC3R polymorphisms in a cross-sectional study of 216 middle-aged nondiabetic Finnish subjects who were offspring of type 2 diabetic patients. Carriers of the lys6 and ile81 alleles had significantly lower rates of lipid oxidation and higher rates of glucose oxidation in the fasting state than subjects with the thr/thr6 and val/val81 genotypes. Rutanen et al. (2007) concluded that SNPs of MC3R may regulate substrate oxidation and first-phase insulin secretion. </p><p>Tarnow et al. (2012) reported that translation of MC3R preferentially occurs at the second in-frame ATG codon. The N-terminally truncated protein would lack thr6, making variation at this position unlikely to influence protein function. </p><p>Using genomewide linkage and positional mapping of tuberculosis-affected sib pairs in South Africans of mixed racial origin and in Africans from northern Malawi, Cooke et al. (2008) identified a novel putative tuberculosis susceptibility locus on chromosome 20q13.31-q33 (MTBS3; 612929). Detailed SNP mapping of chromosome 20q13.31-q33 in a case-control study of West African subjects revealed evidence of disease association with SNPs in the MC3R and CTSZ (603169) genes. Homozygosity for the A allele of a +241G-A SNP in the MC3R gene (rs3827103), which produces the V81I substitution in the protein (Cooke, 2009), conferred resistance to tuberculosis. In contrast, homozygosity for the C allele of a T-C SNP in the 3-prime UTR of the CTSZ gene (rs34069356) was associated with susceptibility to tuberculosis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Genetic and pharmacologic studies defined a role for MC4R in the regulation of energy homeostasis. MC3R is expressed at high levels in the hypothalamus. Chen et al. (2000) evaluated the potential role of MC3R in energy homeostasis by studying Mc3r-deficient (Mc3r -/-) mice and compared the functions of Mc3r and Mc4r in mice deficient for both genes. At the age of 4 to 6 months, Mc3r -/- mice had increased fat mass, reduced lean mass, and higher feed efficiency than wildtype littermates, despite being hypophagic and maintaining normal metabolic rates. (Feed efficiency is the ratio of weight gain to food intake.) Consistent with increased fat mass, Mc3r -/- mice were hyperleptinemic, and male Mc3r -/- mice developed mild hyperinsulinemia. They did not show significantly altered corticosterone or total thyroxine (T4) levels. Mice lacking both Mc3r and Mc4r became significantly heavier than Mc4r -/- mice. Chen et al. (2000) concluded that Mc3r and Mc4r serve nonredundant roles in the regulation of energy homeostasis. Cummings and Schwartz (2000) showed that these studies demonstrated that the 2 melanocortin receptor isoforms reduce body weight through distinct and complementary mechanisms. Mc4r regulates food intake and possibly energy expenditure, whereas Mc3r influences feed efficiency and the petitioning of fuel stores into fat. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 OBESITY (BMIQ9), SUSCEPTIBILITY TO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MC3R, ILE183ASN
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<br />
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SNP: rs74315393,
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gnomAD: rs74315393,
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ClinVar: RCV000022657
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 13-year-old obese girl (BMIQ9; 602025) and her father, Lee et al. (2002) identified a 548T-A transversion, resulting in an ile183-to-asn (I183N) substitution. The MC3R gene was sequenced in 41 unrelated obese children, and 121 DNA samples from nonobese individuals were analyzed for this novel sequence variant by allele-specific PCR. The I183N mutation was found only in the proband and her father, though all 4 family members were obese. The sequence variant was not found in 121 control samples. The proband had a high percentage of body fat (49%), but the father had only 30%. There were no distinguishing phenotypic features. Insulin sensitivity was significantly higher compared to the 40 other obese subjects without MC3R gene mutations. Lee et al. (2002) concluded that differences between phenotypes of the 2 related heterozygotes, and the observation of obesity in other family members without the mutation suggests that obesity results from a varying combination of environmental, behavioral, and multiple genetic factors, even within the same family. </p><p>Tao and Segaloff (2004) reported that the I183N mutation completely lacks signaling in response to agonist stimulation, although it binds ligand with normal affinity and with only slightly decreased capacity. Coexpression of the wildtype and I183N MC3Rs showed that I183N does not exert dominant-negative activity on wildtype MC3R. The authors concluded that these results provided support for the hypothesis that MC3R mutation might be a genetic factor that confers susceptibility to obesity, likely due to haploinsufficiency. Further mutations at I183 revealed a discrete requirement for I183 in agonist-induced MC3R activation. </p><p>By expression in HEK293 cells, Rached et al. (2004) found that the I183N mutation abolished the cAMP response of MC3R to NDP-MSH stimulation. Coexpression of wildtype protein with increasing concentrations of mutant MC3R demonstrated that the I183N mutation exerts a dominant-negative effect. Confocal microscopy revealed that fluorescence-tagged wildtype, but not mutant, MC3R was expressed at the plasma membrane and in a perinuclear position. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 OBESITY (BMIQ9), SUSCEPTIBILITY TO</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MC3R, ILE335SER
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<br />
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SNP: rs121913556,
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gnomAD: rs121913556,
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ClinVar: RCV000022658
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 56-year-old woman with a BMI of 39 (BMIQ9; 602025), Mencarelli et al. (2008) identified heterozygosity for a 1004T-G transversion in the MC3R gene, resulting in an ile335-to-ser (I335S) substitution at a highly conserved region. Her 57-year-old brother, who was also heterozygous for the mutation, had a history of early-onset obesity and strong resistance to losing weight despite continuous dieting; in contrast, her 62-year-old sister who did not carry the mutation had a BMI of 26 and no history of obesity. In vitro expression studies demonstrated that the I335S mutation causes complete loss of function. I335S-transfected COS-7 cells showed diffuse cytoplasmic staining, indicating intracellular retention of the receptor. </p><p>Mencarelli et al. (2011) identified heterozygosity for the I335S mutation in 2 Caucasian patients with obesity, 1 French and 1 Italian. In vitro functional analysis demonstrated that the I335S mutation resulted in complete inactivation of the receptor. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chen, A. S., Marsh, D. J., Trumbauer, M. E., Frazier, E. G., Guan, X.-M., Yu, H., Rosenblum, C. I., Vongs, A., Feng, Y., Cao, L., Metzger, J. M., Strack, A. M., and 9 others.
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<strong>Inactivation of the mouse melanocortin-3 receptor results in increased fat mass and reduced lean body mass.</strong>
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Nature Genet. 26: 97-102, 2000.
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[PubMed: 10973258]
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[Full Text: https://doi.org/10.1038/79254]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cooke, G. S., Campbell, S. J., Bennett, S., Lienhardt, C., McAdam, K. P. W. J., Sirugo, G., Sow, O., Gustafson, P., Mwangulu, F., van Helden, P., Fine, P., Hoal, E. G., Hill, A. V. S.
|
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<strong>Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis.</strong>
|
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Am. J. Resp. Crit. Care Med. 178: 203-207, 2008. Note: Erratum: Am. J. Resp. Crit. Care Med. 179: 624 only, 2009.
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[PubMed: 18420963]
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[Full Text: https://doi.org/10.1164/rccm.200710-1554OC]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cooke, G. S.
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<strong>Personal Communication.</strong>
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KwaZulu-Natal, South Africa 5/26/2009.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cummings, D. E., Schwartz, M. W.
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<strong>Melanocortins and body weight: a tale of two receptors.</strong>
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Nature Genet. 26: 8-9, 2000.
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[PubMed: 10973234]
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[Full Text: https://doi.org/10.1038/79223]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Feng, N., Young, S. F., Aguilera, G., Puricelli, E., Adler-Wailes, D. C., Sebring, N. G., Yanovski, J. A.
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<strong>Co-occurrence of two partially inactivating polymorphisms of MC3R is associated with pediatric-onset obesity.</strong>
|
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Diabetes 54: 2663-2667, 2005.
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[PubMed: 16123355]
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[Full Text: https://doi.org/10.2337/diabetes.54.9.2663]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gantz, I., Konda, Y., Tashiro, T., Shimoto, Y., Miwa, H., Munzert, G., Watson, S. J., DelValle, J., Yamada, T.
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<strong>Molecular cloning of a novel melanocortin receptor.</strong>
|
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J. Biol. Chem. 268: 8246-8250, 1993.
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[PubMed: 8463333]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gantz, I., Tashiro, T., Barcroft, C., Konda, Y., Shimoto, Y., Miwa, H., Glover, T., Munzert, G., Yamada, T.
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<strong>Localization of the genes encoding the melanocortin-2 (adrenocorticotropic hormone) and melanocortin-3 receptors to chromosomes 18p11.2 and 20q13.2-q13.3 by fluorescence in situ hybridization.</strong>
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Genomics 18: 166-167, 1993.
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[PubMed: 8276410]
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[Full Text: https://doi.org/10.1006/geno.1993.1448]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hani, E. H., Dupont, S., Durand, E., Dina, C., Gallina, S., Gantz, I., Froguel, P.
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<strong>Naturally occurring mutations in the melanocortin receptor 3 gene are not associated with type 2 diabetes mellitus in French Caucasians.</strong>
|
|
J. Clin. Endocr. Metab. 86: 2895-2898, 2001.
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[PubMed: 11397906]
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[Full Text: https://doi.org/10.1210/jcem.86.6.7589]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Heisler, L. K., Cowley, M. A., Tecott, L. H., Fan, W., Low, M. J., Smart, J. L., Rubinstein, M., Tatro, J. B., Marcus, J. N., Holstege, H., Lee, C. E., Cone, R. D., Elmquist, J. K.
|
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<strong>Activation of central melanocortin pathways by fenfluramine.</strong>
|
|
Science 297: 609-611, 2002.
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[PubMed: 12142539]
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[Full Text: https://doi.org/10.1126/science.1072327]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lee, Y.-S., Poh, L. K.-S., Loke, K.-Y.
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<strong>A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity.</strong>
|
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J. Clin. Endocr. Metab. 87: 1423-1426, 2002.
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[PubMed: 11889220]
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[Full Text: https://doi.org/10.1210/jcem.87.3.8461]
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|
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|
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|
|
|
|
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|
|
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|
|
Magenis, R. E., Smith, L., Nadeau, J. H., Johnson, K. R., Mountjoy, K. G., Cone, R. D.
|
|
<strong>Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human.</strong>
|
|
Mammalian Genome 5: 503-508, 1994.
|
|
|
|
|
|
[PubMed: 7949735]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00369320]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
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|
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Malas, S., Peters, J., Abbott, C.
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|
<strong>The genes for endothelin 3, vitamin D 24-hydroxylase, and melanocortin 3 receptor map to distal mouse chromosome 2, in the region of conserved synteny with human chromosome 20.</strong>
|
|
Mammalian Genome 5: 577-579, 1994.
|
|
|
|
|
|
[PubMed: 8000144]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00354934]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
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Mencarelli , M., Dubern, B., Alili, R., Maestrini, S., Benajiba, L., Tagliaferri, M., Galan, P., Rinaldi, M., Simon, C., Tounian, P., Hercberg, S., Liuzzi, A., Di Blasio, A. M., Clement, K.
|
|
<strong>Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity.</strong>
|
|
Hum. Molec. Genet. 20: 392-399, 2011.
|
|
|
|
|
|
[PubMed: 21047972]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddq472]
|
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Mencarelli, M., Walker, G. E., Maestrini, S., Alberti, L., Verti, B., Brunani, A., Petroni, M. L., Tagliaferri, M., Liuzzi, A., Di Blasio, A. M.
|
|
<strong>Sporadic mutations in melanocortin receptor 3 in morbid obese individuals.</strong>
|
|
Europ. J. Hum. Genet. 16: 581-586, 2008.
|
|
|
|
|
|
[PubMed: 18231126]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5202005]
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Park, J., Sharma, N., Cutting, G. R.
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<strong>Melanocortin 3 receptor has a 5-prime exon that directs translation of apically localized protein from the second in-frame ATG.</strong>
|
|
Molec. Endocr. 28: 1547-1557, 2014.
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|
[PubMed: 25051171]
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|
|
|
|
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[Full Text: https://doi.org/10.1210/me.2014-1105]
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Rached, M., Buronfosse, A., Begeot, M., Penhoat, A.
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<strong>Inactivation and intracellular retention of the human I183N mutated melanocortin 3 receptor associated with obesity.</strong>
|
|
Biochim. Biophys. Acta 1689: 229-234, 2004.
|
|
|
|
|
|
[PubMed: 15276649]
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|
|
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[Full Text: https://doi.org/10.1016/j.bbadis.2004.03.009]
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Rutanen, J., Pihlajamaki, J., Vanttinen, M., Salmenniemi, U., Ruotsalainen, E., Kuulasmaa, T., Kainulainen, S., Laakso, M.
|
|
<strong>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.</strong>
|
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J. Clin. Endocr. Metab. 92: 1112-1117, 2007. Note: Erratum J. Clin. Endocr. Metab. 93: 1506 only, 2008.
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[PubMed: 17192297]
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[Full Text: https://doi.org/10.1210/jc.2006-1201]
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Tao, Y.-X., Segaloff, D. L.
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<strong>Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation.</strong>
|
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J. Clin. Endocr. Metab. 89: 3936-3942, 2004.
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[PubMed: 15292330]
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[Full Text: https://doi.org/10.1210/jc.2004-0367]
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Tarnow, P., Rediger, A., Schulz, A., Gruters, A., Bierbermann, H.
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<strong>Identification of the translation start site of the human melanocortin 3 receptor.</strong>
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Obes. Facts 5: 45-51, 2012.
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[PubMed: 22433616]
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[Full Text: https://doi.org/10.1159/000336070]
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