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Entry
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- *600542 - NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3
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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">*600542</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>
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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="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</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>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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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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</nav>
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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=ENSG00000119508;t=ENST00000395097" 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=8013" 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=600542" 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=ENSG00000119508;t=ENST00000395097" 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_006981,NM_173199,NM_173200,XM_017015162" 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_006981" 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=600542" 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=02766&isoform_id=02766_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/NR4A3" 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/924282,1165105,1311505,1651191,3168580,3287495,27894355,27894359,27894361,50950046,90110039,119579319,119579320,119579321,119579322,1034671403" 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/Q92570" 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=8013" 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=ENSG00000119508;t=ENST00000395097" 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=NR4A3" 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=NR4A3" 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+8013" 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/NR4A3" 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:8013" 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/8013" 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=chr9&hgg_gene=ENST00000395097.7&hgg_start=99821885&hgg_end=99866891&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=600542[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 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=600542[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/ENSG00000119508" 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=NR4A3" 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=NR4A3" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=NR4A3&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/PA31763" 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:7982" 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://flybase.org/reports/FBgn0014859.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1352457" 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/NR4A3#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:1352457" 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/8013/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=8013" 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://wormbase.org/db/gene/gene?name=WBGene00003605;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070824-4" 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:8013" 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=NR4A3&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>
|
|
600542
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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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NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3
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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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CHONDROSARCOMA, MYXOID EXTRASKELETAL, FUSED TO EWS; CSMF<br />
|
|
CHN<br />
|
|
NEURON-DERIVED ORPHAN RECEPTOR 1; NOR1<br />
|
|
MITOGEN-INDUCED NUCLEAR ORPHAN RECEPTOR; MINOR
|
|
</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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<a id="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
|
<span class="h3 mim-font">
|
|
NR4A3/EWS FUSION GENE, INCLUDED
|
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</span>
|
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</div>
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<div>
|
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<span class="h4 mim-font">
|
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|
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NR4A3/RBP56 FUSION GENE, INCLUDED<br />
|
|
NR4A3/TCF12 FUSION GENE, INCLUDED
|
|
</span>
|
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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=NR4A3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NR4A3</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/9/364?start=-3&limit=10&highlight=364">9q31.1</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:99821885-99866891&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'})">9:99,821,885-99,866,891</a> </span>
|
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</em>
|
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</strong>
|
|
<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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
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>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/364?start=-3&limit=10&highlight=364">
|
|
9q31.1
|
|
</a>
|
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</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Chondrosarcoma, extraskeletal myxoid
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612237"> 612237 </a>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600542" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600542" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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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<span class="mim-font">
|
|
<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.">
|
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<strong>TEXT</strong>
|
|
</span>
|
|
</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">
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<p><a href="#9" class="mim-tip-reference" title="Ohkura, N., Hijikuro, M., Yamanoto, A., Miki, K. <strong>Molecular cloning of a novel thyroid/steroid receptor superfamily gene from cultured rat neuronal cells.</strong> Biochem. Biophys. Res. Commun. 205: 1959-1965, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7811288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7811288</a>] [<a href="https://doi.org/10.1006/bbrc.1994.2900" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7811288">Ohkura et al. (1994)</a> identified a novel member of the steroid/thyroid receptor superfamily, which they designated neuron-derived orphan receptor-1 (NOR1), in primary cultured rat forebrain cells undergoing apoptosis. <a href="#10" class="mim-tip-reference" title="Ohkura, N., Ito, M., Tsukada, T., Sasaki, K., Yamaguchi, K., Miki, K. <strong>Structure, mapping and expression of a human NOR-1 gene, the third member of the Nur77/NGFI-B family.</strong> Biochim. Biophys. Acta 1308: 205-214, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8809112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8809112</a>] [<a href="https://doi.org/10.1016/0167-4781(96)00101-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8809112">Ohkura et al. (1996)</a> cloned the human NOR1 gene (NR4A3) from a fetal brain cDNA library. Human NOR1 encodes a deduced 626-amino acid protein with a calculated molecular mass of 68 kD. The NOR1 protein shows high homology with human TR3 (NR4A1; <a href="/entry/139139">139139</a>) and NOT (NR4A2; <a href="/entry/601828">601828</a>), suggesting that they form a distinct subfamily. Northern blot analysis detected high expression of NOR1 in brain and lung and low expression in kidney and liver in fetal tissues, In adult tissues, NOR1 was detected at a high level in heart, abundantly in skeletal muscle, and marginally in the brain and kidney. Two bands of 4.0 and 5.5 kb were found in fetal lung and adult heart and skeletal muscle, whereas only the 5.5 kb band was found in fetal and adult brain. <a href="#11" class="mim-tip-reference" title="Ohkura, N., Ito, M., Tsukada, T., Sasaki, K., Yamaguchi, K., Miki, K. <strong>Alternative splicing generates isoforms of human neuron-derived orphan receptor-1 (NOR-1) mRNA.</strong> Gene 211: 79-85, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9573341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9573341</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00095-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9573341">Ohkura et al. (1998)</a> determined that the 2 NOR1 transcripts result from alternative splicing. One of the transcripts has a different 5-prime UTR and the other lacks C-terminal amino acid sequences corresponding to the putative ligand-binding domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9573341+8809112+7811288" 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="#10" class="mim-tip-reference" title="Ohkura, N., Ito, M., Tsukada, T., Sasaki, K., Yamaguchi, K., Miki, K. <strong>Structure, mapping and expression of a human NOR-1 gene, the third member of the Nur77/NGFI-B family.</strong> Biochim. Biophys. Acta 1308: 205-214, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8809112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8809112</a>] [<a href="https://doi.org/10.1016/0167-4781(96)00101-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8809112">Ohkura et al. (1996)</a> determined that the human NR4A3 gene contains 8 exons and spans over 35 kb of genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8809112" 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>By fluorescence in situ hybridization, <a href="#10" class="mim-tip-reference" title="Ohkura, N., Ito, M., Tsukada, T., Sasaki, K., Yamaguchi, K., Miki, K. <strong>Structure, mapping and expression of a human NOR-1 gene, the third member of the Nur77/NGFI-B family.</strong> Biochim. Biophys. Acta 1308: 205-214, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8809112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8809112</a>] [<a href="https://doi.org/10.1016/0167-4781(96)00101-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8809112">Ohkura et al. (1996)</a> mapped the NR4A3 gene to chromosome 9q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8809112" 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>Using an antisense oligonucleotide to NR4A3 in primary cultured rat forebrain cells, <a href="#8" class="mim-tip-reference" title="Ohkura, N., Hijikuro, M., Miki, K. <strong>Antisense oligonucleotide to NOR-1, a novel orphan nuclear receptor, induces migration and neurite extension of cultured forebrain cells.</strong> Molec. Brain Res. 35: 309-313, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8717368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8717368</a>] [<a href="https://doi.org/10.1016/0169-328x(95)00210-j" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8717368">Ohkura et al. (1996)</a> found that suppression of NR4A3 induced the migration and neurite extension of neuronal cells without any supplementation by neurotrophic agents, indicating that NR4A3 is associated with the neural development processes in the fetal brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8717368" 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>In primary mouse hepatocytes, <a href="#15" class="mim-tip-reference" title="Pei, L., Waki, H., Vaitheesvaran, B., Wilpitz, D. C., Kurland, I. J., Tontonoz, P. <strong>NR4A orphan nuclear receptors are transcriptional regulators of hepatic glucose metabolism.</strong> Nature Med. 12: 1048-1055, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16906154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16906154</a>] [<a href="https://doi.org/10.1038/nm1471" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16906154">Pei et al. (2006)</a> demonstrated that cAMP rapidly and potently induces expression of Nr4a1, Nr4a2, and Nr4a3. In vivo, hepatic expression of all 3 Nr4a receptors was induced by the cAMP axis in response to glucagon and fasting, and was increased in diabetic mice. <a href="#15" class="mim-tip-reference" title="Pei, L., Waki, H., Vaitheesvaran, B., Wilpitz, D. C., Kurland, I. J., Tontonoz, P. <strong>NR4A orphan nuclear receptors are transcriptional regulators of hepatic glucose metabolism.</strong> Nature Med. 12: 1048-1055, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16906154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16906154</a>] [<a href="https://doi.org/10.1038/nm1471" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16906154">Pei et al. (2006)</a> concluded that members of the NR4A family of ligand-independent orphan nuclear receptors are downstream mediators of cAMP action in the hormonal control of gluconeogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16906154" 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="#7" class="mim-tip-reference" title="Mullican, S. E., Zhang, S., Konopleva, M., Ruvolo, V., Andreeff, M., Milbrandt, J., Conneely, O. M. <strong>Abrogation of nuclear receptors Nr4a3 and Nr4a1 leads to development of acute myeloid leukemia.</strong> Nature Med. 13: 730-735, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17515897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17515897</a>] [<a href="https://doi.org/10.1038/nm1579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17515897">Mullican et al. (2007)</a> found that leukemic blast cells from 46 acute myeloid leukemia (AML; <a href="/entry/601626">601626</a>) patients with a variety of cytogenetic abnormalities all showed downregulation of NR4A1 and NR4A3 compared with CD34+ cells from normal controls, suggesting that epigenetic silencing of these receptors may be an obligate event in human AML development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17515897" 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="#16" class="mim-tip-reference" title="Pielberg, G. R., Golovko, A., Sundstrom, E., Curik, I., Lennartsson, J., Seltenhammer, M. H., Druml, T., Binns, M., Fitzsimmons, C., Lindgren, G., Sandberg, K., Baumung, R., and 9 others. <strong>A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse.</strong> Nature Genet. 40: 1004-1009, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18641652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18641652</a>] [<a href="https://doi.org/10.1038/ng.185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18641652">Pielberg et al. (2008)</a> found that NR4A3 and the neighboring STX17 gene (<a href="/entry/604204">604204</a>) are overexpressed in melanomas from Gray horses, which undergo a loss of hair pigmentation caused by mutation in the STX17 gene. Gray horses carrying a loss-of-function mutation in the ASIP (<a href="/entry/600201">600201</a>) gene had a higher incidence of melanoma, implying that increased melanocortin-1 receptor signaling promotes melanoma development in Gray horses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18641652" 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><strong><em>NR4A3/EWS Fusion Gene</em></strong></p><p>
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Extraskeletal myxoid chondrosarcomas (EMC; <a href="/entry/612237">612237</a>) are soft tissue tumors of chondroblastic origin that occur primarily in adults. A recurrent translocation t(9;22)(q22-31;q11-12) was observed in EMCs by <a href="#3" class="mim-tip-reference" title="Hinrichs, S. H., Jaramillo, M. A., Gumerlock, P. H., Gardner, M. B., Lewis, J. P., Freeman, A. E. <strong>Myxoid chondrosarcoma with a translocation involving chromosomes 9 and 22.</strong> Cancer Genet. Cytogenet. 14: 219-226, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3967207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3967207</a>] [<a href="https://doi.org/10.1016/0165-4608(85)90187-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3967207">Hinrichs et al. (1985)</a>, <a href="#22" class="mim-tip-reference" title="Turc-Carel, C., Dal Cin, P., Rao, U., Karakousis, C., Sandberg, A. A. <strong>Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrosarcoma.</strong> Cancer Genet. Cytogenet. 30: 145-150, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3422040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3422040</a>] [<a href="https://doi.org/10.1016/0165-4608(88)90103-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3422040">Turc-Carel et al. (1988)</a>, <a href="#13" class="mim-tip-reference" title="Orndal, C., Carlen, B., Akerman, M., Willen, H., Mandahl, N., Heim, S., Rydholm, A., Mitelman, F. <strong>Chromosomal abnormality t(9;22)(q22;q12) in an extraskeletal myxoid chondrosarcoma characterized by fine needle aspiration cytology, electron microscopy, immunohistochemistry and DNA flow cytometry.</strong> Cytopathology 2: 261-270, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1782363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1782363</a>] [<a href="https://doi.org/10.1111/j.1365-2303.1991.tb00497.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1782363">Orndal et al. (1991)</a>, and <a href="#20" class="mim-tip-reference" title="Stenman, G., Andersson, H., Mandahl, N., Meis-Kindblom, J. M., Kindblom, L.-G. <strong>Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma.</strong> Int. J. Cancer 62: 398-402, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7635565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7635565</a>] [<a href="https://doi.org/10.1002/ijc.2910620407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7635565">Stenman et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3967207+1782363+7635565+3422040" 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="#21" class="mim-tip-reference" title="Tarkkanen, M., Wiklund, T., Virolainen, M., Elomaa, I., Knuutila, S. <strong>Dedifferentiated chondrosarcoma with t(9;22)(q34;q11-12).</strong> Genes Chromosomes Cancer 9: 136-140, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7513544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7513544</a>] [<a href="https://doi.org/10.1002/gcc.2870090210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7513544">Tarkkanen et al. (1994)</a> observed this translocation in a dedifferentiated chondrosarcoma (<a href="/entry/215300">215300</a>) with no evidence of myxoid component. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7513544" 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>In a patient with skeletal myxoid chondrosarcoma and a t(9;22)(q22-31;q11-12), <a href="#2" class="mim-tip-reference" title="Gill, S., McManus, A. P., Crew, A. J., Benjamin, H., Sheer, D., Gusterson, B. A., Pinkerton, C. R., Patel, K., Cooper, C. S., Shipley, J. M. <strong>Fusion of the EWS gene to a DNA segment from 9q22-31 in a human myxoid chondrosarcoma.</strong> Genes Chromosomes Cancer 12: 307-310, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539287</a>] [<a href="https://doi.org/10.1002/gcc.2870120412" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7539287">Gill et al. (1995)</a> demonstrated that a segment on chromosome 9 was fused to the N-terminal region of the EWS gene (<a href="/entry/133450">133450</a>) as a result of the reciprocal translocation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539287" 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="#6" class="mim-tip-reference" title="Labelle, Y., Zucman, J., Stenman, G., Kindblom, L.-G., Knight, J., Turc-Carel, C., Dockhorn-Dworniczak, B., Mandahl, N., Desmaze, C., Peter, M., Aurias, A., Delattre, O., Thomas, G. <strong>Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.</strong> Hum. Molec. Genet. 4: 2219-2226, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8634690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8634690</a>] [<a href="https://doi.org/10.1093/hmg/4.12.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8634690">Labelle et al. (1995)</a> noted that in all known EWS fusion proteins, the RNA-recognition motif of EWS is replaced by the DNA-binding domain of the corresponding transcription factor. They demonstrated by fluorescence in situ hybridization that in 1 EMC tumor the chromosome 22 breakpoint occurred in the EWS gene. Northern blot analysis revealed an aberrant transcript that was cloned by a modified RT-PCR procedure. This transcript consisted of an in-frame fusion of the 5-prime end of EWS to the NR4A3 gene, which <a href="#6" class="mim-tip-reference" title="Labelle, Y., Zucman, J., Stenman, G., Kindblom, L.-G., Knight, J., Turc-Carel, C., Dockhorn-Dworniczak, B., Mandahl, N., Desmaze, C., Peter, M., Aurias, A., Delattre, O., Thomas, G. <strong>Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.</strong> Hum. Molec. Genet. 4: 2219-2226, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8634690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8634690</a>] [<a href="https://doi.org/10.1093/hmg/4.12.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8634690">Labelle et al. (1995)</a> called TEC and which has also been called CSMF. This fusion transcript was detected in 6 of 8 EMCs studied, and 3 different junction types between the 2 genes were found. EWS linked to the entire NR4A3 protein. Homology analysis showed that the predicted NR4A3 protein contains a DNA-binding domain characteristic of nuclear receptors. The highest identity scores were observed with the NURR1 family of orphan nuclear receptors (NR4A2; <a href="/entry/601828">601828</a>). (This situation is reminiscent of the FUS/CHOP fusion protein in which the entire CHOP (<a href="/entry/126337">126337</a>) protein is linked to the amino-terminal domain of FUS (<a href="/entry/137070">137070</a>) by an additional 26 amino acid sequence.) <a href="#6" class="mim-tip-reference" title="Labelle, Y., Zucman, J., Stenman, G., Kindblom, L.-G., Knight, J., Turc-Carel, C., Dockhorn-Dworniczak, B., Mandahl, N., Desmaze, C., Peter, M., Aurias, A., Delattre, O., Thomas, G. <strong>Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.</strong> Hum. Molec. Genet. 4: 2219-2226, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8634690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8634690</a>] [<a href="https://doi.org/10.1093/hmg/4.12.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8634690">Labelle et al. (1995)</a> stated that the EWS/NR4A3 gene fusion is the second example of the oncogenic conversion of a nuclear receptor in human tumorigenesis, the first being the PML/RARA gene fusion generated by the t(15;17) translocation in acute promyelocytic leukemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8634690" 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="#1" class="mim-tip-reference" title="Clark, J., Benjamin, H., Gill, S., Sidhar, S., Goodwin, G., Crew, J., Gusterson, B. A., Shipley, J., Cooper, C. S. <strong>Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma.</strong> Oncogene 12: 229-235, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8570200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8570200</a>]" pmid="8570200">Clark et al. (1996)</a>, who symbolized the NR4A3 gene as CHN, found that the chimeric EWS/CHN gene encodes an EWS/CHN fusion protein in which the C-terminal RNA-binding domain of EWS is replaced by the entire CHN protein, comprising a long N-terminal domain, a central DNA binding domain, and a C-terminal ligand-binding/dimerization domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8570200" 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 cotransfection experiments of COS cells and human chondrocytes, <a href="#5" class="mim-tip-reference" title="Labelle, Y., Bussieres, J., Courjal, F., Goldring, M. B. <strong>The EWS/TEC fusion protein encoded by the t(9;22) chromosomal translocation in human chondrosarcomas is a highly potent transcriptional activator.</strong> Oncogene 18: 3303-3308, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10359536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10359536</a>] [<a href="https://doi.org/10.1038/sj.onc.1202675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10359536">Labelle et al. (1999)</a> demonstrated that whereas NR4A3 moderately activates transcription from an NGFIB response element (NBRE)-containing promoter, a corresponding EWS (<a href="/entry/133450">133450</a>)/NR4A3 fusion protein, generated by the t(9;22) chromosomal translocation, is a highly potent transcriptional activator of the same promoter, being approximately 270-fold more active than the native receptor. EWS/NR4A3 may thus exert its oncogenic potential in chondrosarcomas by activating the transcription of target genes involved in cell proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10359536" 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 a yeast functional complementation assay to identify possible functions of the EWS/NOR1 fusion gene, <a href="#12" class="mim-tip-reference" title="Ohkura, N., Yaguchi, H., Tsukada, T., Yamaguchi, K. <strong>The EWS/NOR1 fusion gene product gains a novel activity affecting pre-mRNA splicing.</strong> J. Biol. Chem. 277: 535-543, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11673470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11673470</a>] [<a href="https://doi.org/10.1074/jbc.M109018200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11673470">Ohkura et al. (2002)</a> determined that the EWS/NOR1 fusion gene gained a novel activity affecting RNA. EWS/NOR1 partially functioned as an snRNP in yeast and affected pre-mRNA splicing in mammalian cells. Mammalian cell studies showed that the EWS/NOR1 fusion gene localized within the nucleus and showed characteristics similar to that of an RNA-binding protein. Overexpression of EWS/NOR1 in mammalian cells resulted in increased usage of the distal 5-prime splice site of pre-mRNA splicing and that EWS/NOR1 interacted with the U1C splicing protein. The findings suggested an oncogenic mechanism alternative to that of transcriptional control, and indicated that changes in pre-mRNA splicing may contribute to oncogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11673470" 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><strong><em>NR4A3/RBP56 Fusion Gene</em></strong></p><p>
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<a href="#14" class="mim-tip-reference" title="Panagopoulos, I., Mencinger, M., Dietrich, C. U., Bjerkehagan, B., Saeter, G., Mertens, F., Mandahl, N., Heim, S. <strong>Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11).</strong> Oncogene 18: 7594-7598, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10602519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10602519</a>] [<a href="https://doi.org/10.1038/sj.onc.1203155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10602519">Panagopoulos et al. (1999)</a> demonstrated that RBP56 (<a href="/entry/601574">601574</a>) can combine with the NR4A3 gene to generate a chimeric RBP56/NR4A3 gene; the fusion gene was identified in a subset of extraskeletal myxoid chondrosarcomas with the translocation t(9;17)(q22;q11). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10602519" 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><strong><em>NR4A3/TCF12 Fusion Gene</em></strong></p><p>
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By spectral karyotyping, <a href="#19" class="mim-tip-reference" title="Sjogren, H., Wedell, B., Meis-Kindblom, J. M., Kindblom, L.-G., Stenman, G. <strong>Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21).</strong> Cancer Res. 60: 6832-6835, 2000. Note: Erratum: Cancer Res. 61: 2339 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11156374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11156374</a>]" pmid="11156374">Sjogren et al. (2000)</a> identified a reciprocal t(9;15)(q22;q21) translocation in cells obtained from a tumor with characteristics of EMC. The translocation produced a chimeric transcript encoding a protein in which the first 108 amino acids of the N terminus of TCF12 (<a href="/entry/600480">600480</a>) were fused in-frame upstream of the entire NR4A3 sequence. The N-terminal TCF12 sequence included in the fusion product contains potential phosphorylation and N-glycosylation sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11156374" 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><strong><em>NR4A3/TFG Fusion Gene</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Hisaoka, M., Ishida, T., Imamura, T., Hashimoto, H. <strong>RFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma.</strong> Genes Chromosomes Cancer 40: 325-328, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15188455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15188455</a>] [<a href="https://doi.org/10.1002/gcc.20044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15188455">Hisaoka et al. (2004)</a> identified an NOR1/TFG (<a href="/entry/602498">602498</a>) fusion gene in an EMC derived from a Japanese patient. The fusion occurred between exon 6 of the TFG gene and exon 3 of the NOR1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15188455" 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>Note that 2 literature designations for this gene, TEC and CHN, have been used by the HUGO Nomenclature Committee for other genes described in entries <a href="/entry/600583">600583</a> and <a href="/entry/118423">118423</a>, respectively.</p>
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<p><a href="#17" class="mim-tip-reference" title="Ponnio, T., Conneely, O. M. <strong>Nor-1 regulates hippocampal axon guidance, pyramidal cell survival, and seizure susceptibility.</strong> Molec. Cell. Biol. 24: 9070-9078, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15456880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15456880</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15456880[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/10.1128/MCB.24.20.9070-9078.2004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15456880">Ponnio and Conneely (2004)</a> found that Nor1-null mice showed increased limbic seizure activity in response to the excitotoxic glutamate receptor agonist kainic acid compared to wildtype mice. Pathologic examination of the mutant mice showed defective postnatal hippocampal development, including abnormal axonal guidance of dentate gyrus granule and mossy cells, disorganization of the pyramidal cell layer, and early postnatal death of CA1 pyramidal neurons. The authors concluded that Nor1 plays a role in neuronal survival and axonal guidance in the developing murine hippocampus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15456880" 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="#7" class="mim-tip-reference" title="Mullican, S. E., Zhang, S., Konopleva, M., Ruvolo, V., Andreeff, M., Milbrandt, J., Conneely, O. M. <strong>Abrogation of nuclear receptors Nr4a3 and Nr4a1 leads to development of acute myeloid leukemia.</strong> Nature Med. 13: 730-735, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17515897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17515897</a>] [<a href="https://doi.org/10.1038/nm1579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17515897">Mullican et al. (2007)</a> generated Nr4a1/Nr4a3 double-null mice and observed the development of rapidly lethal AML involving abnormal expansion of hematopoietic stem cells and myeloid progenitors, decreased expression of Junb (<a href="/entry/165161">165161</a>) and Jun (<a href="/entry/165160">165160</a>), and defective extrinsic apoptotic signaling (FASL, <a href="/entry/134638">134638</a>; TRAIL, <a href="/entry/603598">603598</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17515897" 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="Ramirez-Herrick, A. M., Mullican, S. E., Sheehan, A. M., Conneely, O. M. <strong>Reduced NR4A gene dosage leads to mixed myelodysplastic/myeloproliferative neoplasms in mice.</strong> Blood 117: 2681-2690, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21205929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21205929</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21205929[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/10.1182/blood-2010-02-267906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21205929">Ramirez-Herrick et al. (2011)</a> found that reduced gene dosage of Nr4a1 and Nr4a3 in hypoallelic (Nr4a1 +/- Nr4a3 -/- or Nr4a1 -/- Nrfa3 +/-) mice below a critical threshold led to chronic myeloid malignancy with features of mixed myelodysplastic/myeloproliferative neoplasms, with progression to AML in rare cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21205929" 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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Clark, J., Benjamin, H., Gill, S., Sidhar, S., Goodwin, G., Crew, J., Gusterson, B. A., Shipley, J., Cooper, C. S.
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<strong>Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma.</strong>
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Oncogene 12: 229-235, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8570200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8570200</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8570200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gill, S., McManus, A. P., Crew, A. J., Benjamin, H., Sheer, D., Gusterson, B. A., Pinkerton, C. R., Patel, K., Cooper, C. S., Shipley, J. M.
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<strong>Fusion of the EWS gene to a DNA segment from 9q22-31 in a human myxoid chondrosarcoma.</strong>
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Genes Chromosomes Cancer 12: 307-310, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539287</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539287" 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/10.1002/gcc.2870120412" target="_blank">Full Text</a>]
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Hinrichs, S. H., Jaramillo, M. A., Gumerlock, P. H., Gardner, M. B., Lewis, J. P., Freeman, A. E.
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<strong>Myxoid chondrosarcoma with a translocation involving chromosomes 9 and 22.</strong>
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[<a href="https://doi.org/10.1016/0165-4608(85)90187-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/gcc.20044" target="_blank">Full Text</a>]
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<a id="Stenman1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stenman, G., Andersson, H., Mandahl, N., Meis-Kindblom, J. M., Kindblom, L.-G.
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<strong>Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma.</strong>
|
|
Int. J. Cancer 62: 398-402, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7635565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7635565</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7635565" 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/10.1002/ijc.2910620407" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Tarkkanen1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tarkkanen, M., Wiklund, T., Virolainen, M., Elomaa, I., Knuutila, S.
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|
<strong>Dedifferentiated chondrosarcoma with t(9;22)(q34;q11-12).</strong>
|
|
Genes Chromosomes Cancer 9: 136-140, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7513544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7513544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7513544" 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/10.1002/gcc.2870090210" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Turc-Carel1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Turc-Carel, C., Dal Cin, P., Rao, U., Karakousis, C., Sandberg, A. A.
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<strong>Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrosarcoma.</strong>
|
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Cancer Genet. Cytogenet. 30: 145-150, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3422040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3422040</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3422040" 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/10.1016/0165-4608(88)90103-3" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<a id="contributors" 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="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Patricia A. Hartz - updated : 10/21/2011
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</span>
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</div>
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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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Ada Hamosh - updated : 10/24/2008<br>Cassandra L. Kniffin - updated : 8/14/2008<br>Carol A. Bocchini - updated : 8/12/2008<br>Marla J. F. O'Neill - updated : 7/2/2007<br>Marla J. F. O'Neill - updated : 10/30/2006<br>Cassandra L. Kniffin - updated : 1/21/2005<br>Patricia A. Hartz - updated : 9/5/2003<br>Victor A. McKusick - edited : 8/22/2003<br>Carol A. Bocchini - updated : 5/22/2001<br>Victor A. McKusick - updated : 2/15/2001<br>Victor A. McKusick - updated : 1/24/2000
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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 : 5/21/1995
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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="editHistory" 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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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terry : 08/08/2012
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</span>
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</div>
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</div>
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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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mgross : 10/27/2011<br>terry : 10/21/2011<br>alopez : 11/17/2008<br>terry : 10/24/2008<br>carol : 8/20/2008<br>terry : 8/15/2008<br>ckniffin : 8/14/2008<br>carol : 8/12/2008<br>carol : 8/5/2008<br>wwang : 7/5/2007<br>terry : 7/2/2007<br>wwang : 10/30/2006<br>terry : 4/4/2005<br>tkritzer : 1/26/2005<br>ckniffin : 1/21/2005<br>carol : 3/17/2004<br>mgross : 9/5/2003<br>carol : 8/22/2003<br>terry : 8/22/2003<br>alopez : 1/23/2003<br>ckniffin : 8/26/2002<br>mgross : 5/7/2002<br>carol : 1/8/2002<br>carol : 6/14/2001<br>terry : 5/22/2001<br>cwells : 2/21/2001<br>terry : 2/15/2001<br>carol : 1/30/2000<br>terry : 1/24/2000<br>carol : 10/22/1999<br>mgross : 9/24/1999<br>terry : 6/4/1998<br>mark : 6/17/1997<br>terry : 4/15/1996<br>terry : 4/9/1996<br>terry : 3/26/1996<br>joanna : 1/31/1996<br>mark : 1/16/1996<br>terry : 1/16/1996<br>mark : 1/16/1996<br>terry : 1/4/1996<br>mimadm : 11/3/1995<br>terry : 6/8/1995<br>terry : 6/3/1995<br>mark : 5/21/1995
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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>
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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 class="col-md-8 col-md-offset-1">
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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> 600542
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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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|
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NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3
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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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CHONDROSARCOMA, MYXOID EXTRASKELETAL, FUSED TO EWS; CSMF<br />
|
|
CHN<br />
|
|
NEURON-DERIVED ORPHAN RECEPTOR 1; NOR1<br />
|
|
MITOGEN-INDUCED NUCLEAR ORPHAN RECEPTOR; MINOR
|
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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-font">
|
|
Other entities represented in this entry:
|
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</span>
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</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
NR4A3/EWS FUSION GENE, INCLUDED
|
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</span>
|
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</div>
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<div>
|
|
<span class="h4 mim-font">
|
|
|
|
NR4A3/RBP56 FUSION GENE, INCLUDED<br />
|
|
NR4A3/TCF12 FUSION GENE, INCLUDED
|
|
</span>
|
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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: NR4A3</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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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: 9q31.1
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 9:99,821,885-99,866,891 </span>
|
|
</em>
|
|
</strong>
|
|
<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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
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>
|
|
Phenotype <br /> MIM number
|
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</th>
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
9q31.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Chondrosarcoma, extraskeletal myxoid
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612237
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
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|
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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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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<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">
|
|
<p>Ohkura et al. (1994) identified a novel member of the steroid/thyroid receptor superfamily, which they designated neuron-derived orphan receptor-1 (NOR1), in primary cultured rat forebrain cells undergoing apoptosis. Ohkura et al. (1996) cloned the human NOR1 gene (NR4A3) from a fetal brain cDNA library. Human NOR1 encodes a deduced 626-amino acid protein with a calculated molecular mass of 68 kD. The NOR1 protein shows high homology with human TR3 (NR4A1; 139139) and NOT (NR4A2; 601828), suggesting that they form a distinct subfamily. Northern blot analysis detected high expression of NOR1 in brain and lung and low expression in kidney and liver in fetal tissues, In adult tissues, NOR1 was detected at a high level in heart, abundantly in skeletal muscle, and marginally in the brain and kidney. Two bands of 4.0 and 5.5 kb were found in fetal lung and adult heart and skeletal muscle, whereas only the 5.5 kb band was found in fetal and adult brain. Ohkura et al. (1998) determined that the 2 NOR1 transcripts result from alternative splicing. One of the transcripts has a different 5-prime UTR and the other lacks C-terminal amino acid sequences corresponding to the putative ligand-binding domain. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<span class="mim-text-font">
|
|
<p>Ohkura et al. (1996) determined that the human NR4A3 gene contains 8 exons and spans over 35 kb of genomic DNA. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<span class="mim-text-font">
|
|
<p>By fluorescence in situ hybridization, Ohkura et al. (1996) mapped the NR4A3 gene to chromosome 9q. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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<span class="mim-text-font">
|
|
<p>Using an antisense oligonucleotide to NR4A3 in primary cultured rat forebrain cells, Ohkura et al. (1996) found that suppression of NR4A3 induced the migration and neurite extension of neuronal cells without any supplementation by neurotrophic agents, indicating that NR4A3 is associated with the neural development processes in the fetal brain. </p><p>In primary mouse hepatocytes, Pei et al. (2006) demonstrated that cAMP rapidly and potently induces expression of Nr4a1, Nr4a2, and Nr4a3. In vivo, hepatic expression of all 3 Nr4a receptors was induced by the cAMP axis in response to glucagon and fasting, and was increased in diabetic mice. Pei et al. (2006) concluded that members of the NR4A family of ligand-independent orphan nuclear receptors are downstream mediators of cAMP action in the hormonal control of gluconeogenesis. </p><p>Mullican et al. (2007) found that leukemic blast cells from 46 acute myeloid leukemia (AML; 601626) patients with a variety of cytogenetic abnormalities all showed downregulation of NR4A1 and NR4A3 compared with CD34+ cells from normal controls, suggesting that epigenetic silencing of these receptors may be an obligate event in human AML development. </p><p>Pielberg et al. (2008) found that NR4A3 and the neighboring STX17 gene (604204) are overexpressed in melanomas from Gray horses, which undergo a loss of hair pigmentation caused by mutation in the STX17 gene. Gray horses carrying a loss-of-function mutation in the ASIP (600201) gene had a higher incidence of melanoma, implying that increased melanocortin-1 receptor signaling promotes melanoma development in Gray horses. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<span class="mim-text-font">
|
|
<p><strong><em>NR4A3/EWS Fusion Gene</em></strong></p><p>
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Extraskeletal myxoid chondrosarcomas (EMC; 612237) are soft tissue tumors of chondroblastic origin that occur primarily in adults. A recurrent translocation t(9;22)(q22-31;q11-12) was observed in EMCs by Hinrichs et al. (1985), Turc-Carel et al. (1988), Orndal et al. (1991), and Stenman et al. (1995). </p><p>Tarkkanen et al. (1994) observed this translocation in a dedifferentiated chondrosarcoma (215300) with no evidence of myxoid component. </p><p>In a patient with skeletal myxoid chondrosarcoma and a t(9;22)(q22-31;q11-12), Gill et al. (1995) demonstrated that a segment on chromosome 9 was fused to the N-terminal region of the EWS gene (133450) as a result of the reciprocal translocation. </p><p>Labelle et al. (1995) noted that in all known EWS fusion proteins, the RNA-recognition motif of EWS is replaced by the DNA-binding domain of the corresponding transcription factor. They demonstrated by fluorescence in situ hybridization that in 1 EMC tumor the chromosome 22 breakpoint occurred in the EWS gene. Northern blot analysis revealed an aberrant transcript that was cloned by a modified RT-PCR procedure. This transcript consisted of an in-frame fusion of the 5-prime end of EWS to the NR4A3 gene, which Labelle et al. (1995) called TEC and which has also been called CSMF. This fusion transcript was detected in 6 of 8 EMCs studied, and 3 different junction types between the 2 genes were found. EWS linked to the entire NR4A3 protein. Homology analysis showed that the predicted NR4A3 protein contains a DNA-binding domain characteristic of nuclear receptors. The highest identity scores were observed with the NURR1 family of orphan nuclear receptors (NR4A2; 601828). (This situation is reminiscent of the FUS/CHOP fusion protein in which the entire CHOP (126337) protein is linked to the amino-terminal domain of FUS (137070) by an additional 26 amino acid sequence.) Labelle et al. (1995) stated that the EWS/NR4A3 gene fusion is the second example of the oncogenic conversion of a nuclear receptor in human tumorigenesis, the first being the PML/RARA gene fusion generated by the t(15;17) translocation in acute promyelocytic leukemia. </p><p>Clark et al. (1996), who symbolized the NR4A3 gene as CHN, found that the chimeric EWS/CHN gene encodes an EWS/CHN fusion protein in which the C-terminal RNA-binding domain of EWS is replaced by the entire CHN protein, comprising a long N-terminal domain, a central DNA binding domain, and a C-terminal ligand-binding/dimerization domain. </p><p>By cotransfection experiments of COS cells and human chondrocytes, Labelle et al. (1999) demonstrated that whereas NR4A3 moderately activates transcription from an NGFIB response element (NBRE)-containing promoter, a corresponding EWS (133450)/NR4A3 fusion protein, generated by the t(9;22) chromosomal translocation, is a highly potent transcriptional activator of the same promoter, being approximately 270-fold more active than the native receptor. EWS/NR4A3 may thus exert its oncogenic potential in chondrosarcomas by activating the transcription of target genes involved in cell proliferation. </p><p>Using a yeast functional complementation assay to identify possible functions of the EWS/NOR1 fusion gene, Ohkura et al. (2002) determined that the EWS/NOR1 fusion gene gained a novel activity affecting RNA. EWS/NOR1 partially functioned as an snRNP in yeast and affected pre-mRNA splicing in mammalian cells. Mammalian cell studies showed that the EWS/NOR1 fusion gene localized within the nucleus and showed characteristics similar to that of an RNA-binding protein. Overexpression of EWS/NOR1 in mammalian cells resulted in increased usage of the distal 5-prime splice site of pre-mRNA splicing and that EWS/NOR1 interacted with the U1C splicing protein. The findings suggested an oncogenic mechanism alternative to that of transcriptional control, and indicated that changes in pre-mRNA splicing may contribute to oncogenesis. </p><p><strong><em>NR4A3/RBP56 Fusion Gene</em></strong></p><p>
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Panagopoulos et al. (1999) demonstrated that RBP56 (601574) can combine with the NR4A3 gene to generate a chimeric RBP56/NR4A3 gene; the fusion gene was identified in a subset of extraskeletal myxoid chondrosarcomas with the translocation t(9;17)(q22;q11). </p><p><strong><em>NR4A3/TCF12 Fusion Gene</em></strong></p><p>
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By spectral karyotyping, Sjogren et al. (2000) identified a reciprocal t(9;15)(q22;q21) translocation in cells obtained from a tumor with characteristics of EMC. The translocation produced a chimeric transcript encoding a protein in which the first 108 amino acids of the N terminus of TCF12 (600480) were fused in-frame upstream of the entire NR4A3 sequence. The N-terminal TCF12 sequence included in the fusion product contains potential phosphorylation and N-glycosylation sites. </p><p><strong><em>NR4A3/TFG Fusion Gene</em></strong></p><p>
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Hisaoka et al. (2004) identified an NOR1/TFG (602498) fusion gene in an EMC derived from a Japanese patient. The fusion occurred between exon 6 of the TFG gene and exon 3 of the NOR1 gene. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</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>Note that 2 literature designations for this gene, TEC and CHN, have been used by the HUGO Nomenclature Committee for other genes described in entries 600583 and 118423, respectively.</p>
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</span>
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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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<span class="mim-text-font">
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<p>Ponnio and Conneely (2004) found that Nor1-null mice showed increased limbic seizure activity in response to the excitotoxic glutamate receptor agonist kainic acid compared to wildtype mice. Pathologic examination of the mutant mice showed defective postnatal hippocampal development, including abnormal axonal guidance of dentate gyrus granule and mossy cells, disorganization of the pyramidal cell layer, and early postnatal death of CA1 pyramidal neurons. The authors concluded that Nor1 plays a role in neuronal survival and axonal guidance in the developing murine hippocampus. </p><p>Mullican et al. (2007) generated Nr4a1/Nr4a3 double-null mice and observed the development of rapidly lethal AML involving abnormal expansion of hematopoietic stem cells and myeloid progenitors, decreased expression of Junb (165161) and Jun (165160), and defective extrinsic apoptotic signaling (FASL, 134638; TRAIL, 603598). </p><p>Ramirez-Herrick et al. (2011) found that reduced gene dosage of Nr4a1 and Nr4a3 in hypoallelic (Nr4a1 +/- Nr4a3 -/- or Nr4a1 -/- Nrfa3 +/-) mice below a critical threshold led to chronic myeloid malignancy with features of mixed myelodysplastic/myeloproliferative neoplasms, with progression to AML in rare cases. </p>
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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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</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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<strong>Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma.</strong>
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<p class="mim-text-font">
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<strong>Fusion of the EWS gene to a DNA segment from 9q22-31 in a human myxoid chondrosarcoma.</strong>
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Labelle, Y., Bussieres, J., Courjal, F., Goldring, M. B.
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<strong>The EWS/TEC fusion protein encoded by the t(9;22) chromosomal translocation in human chondrosarcomas is a highly potent transcriptional activator.</strong>
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<strong>Abrogation of nuclear receptors Nr4a3 and Nr4a1 leads to development of acute myeloid leukemia.</strong>
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Ohkura, N., Hijikuro, M., Yamanoto, A., Miki, K.
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Ohkura, N., Ito, M., Tsukada, T., Sasaki, K., Yamaguchi, K., Miki, K.
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<strong>Structure, mapping and expression of a human NOR-1 gene, the third member of the Nur77/NGFI-B family.</strong>
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Ohkura, N., Ito, M., Tsukada, T., Sasaki, K., Yamaguchi, K., Miki, K.
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Ohkura, N., Yaguchi, H., Tsukada, T., Yamaguchi, K.
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Orndal, C., Carlen, B., Akerman, M., Willen, H., Mandahl, N., Heim, S., Rydholm, A., Mitelman, F.
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<strong>Chromosomal abnormality t(9;22)(q22;q12) in an extraskeletal myxoid chondrosarcoma characterized by fine needle aspiration cytology, electron microscopy, immunohistochemistry and DNA flow cytometry.</strong>
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Panagopoulos, I., Mencinger, M., Dietrich, C. U., Bjerkehagan, B., Saeter, G., Mertens, F., Mandahl, N., Heim, S.
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<strong>Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11).</strong>
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Pei, L., Waki, H., Vaitheesvaran, B., Wilpitz, D. C., Kurland, I. J., Tontonoz, P.
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Pielberg, G. R., Golovko, A., Sundstrom, E., Curik, I., Lennartsson, J., Seltenhammer, M. H., Druml, T., Binns, M., Fitzsimmons, C., Lindgren, G., Sandberg, K., Baumung, R., and 9 others.
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Ponnio, T., Conneely, O. M.
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Ramirez-Herrick, A. M., Mullican, S. E., Sheehan, A. M., Conneely, O. M.
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<strong>Reduced NR4A gene dosage leads to mixed myelodysplastic/myeloproliferative neoplasms in mice.</strong>
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Sjogren, H., Wedell, B., Meis-Kindblom, J. M., Kindblom, L.-G., Stenman, G.
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<strong>Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21).</strong>
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<li>
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<p class="mim-text-font">
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Stenman, G., Andersson, H., Mandahl, N., Meis-Kindblom, J. M., Kindblom, L.-G.
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<strong>Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma.</strong>
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<p class="mim-text-font">
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Tarkkanen, M., Wiklund, T., Virolainen, M., Elomaa, I., Knuutila, S.
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<strong>Dedifferentiated chondrosarcoma with t(9;22)(q34;q11-12).</strong>
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Genes Chromosomes Cancer 9: 136-140, 1994.
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[PubMed: 7513544]
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[Full Text: https://doi.org/10.1002/gcc.2870090210]
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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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Turc-Carel, C., Dal Cin, P., Rao, U., Karakousis, C., Sandberg, A. A.
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<strong>Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrosarcoma.</strong>
|
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Cancer Genet. Cytogenet. 30: 145-150, 1988.
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[PubMed: 3422040]
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[Full Text: https://doi.org/10.1016/0165-4608(88)90103-3]
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</p>
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</li>
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</ol>
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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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Patricia A. Hartz - updated : 10/21/2011<br>Ada Hamosh - updated : 10/24/2008<br>Cassandra L. Kniffin - updated : 8/14/2008<br>Carol A. Bocchini - updated : 8/12/2008<br>Marla J. F. O'Neill - updated : 7/2/2007<br>Marla J. F. O'Neill - updated : 10/30/2006<br>Cassandra L. Kniffin - updated : 1/21/2005<br>Patricia A. Hartz - updated : 9/5/2003<br>Victor A. McKusick - edited : 8/22/2003<br>Carol A. Bocchini - updated : 5/22/2001<br>Victor A. McKusick - updated : 2/15/2001<br>Victor A. McKusick - updated : 1/24/2000
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Victor A. McKusick : 5/21/1995
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