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Entry
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- *184430 - SRY-BOX 4; SOX4
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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">*184430</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="#geneFunction">Gene Function</a>
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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="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/184430">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000124766;t=ENST00000244745" 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=6659" 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=184430" 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=ENSG00000124766;t=ENST00000244745" 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_003107" 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_003107" 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=184430" 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=01695&isoform_id=01695_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/SOX4" 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/36553,548952,938230,4507163,49257399,119575833" 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/Q06945" 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=6659" 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=ENSG00000124766;t=ENST00000244745" 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=SOX4" 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=SOX4" 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+6659" 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/SOX4" 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:6659" 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/6659" 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=chr6&hgg_gene=ENST00000244745.4&hgg_start=21593751&hgg_end=21598619&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=184430[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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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=184430[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://www.deciphergenomics.org/gene/SOX4/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000124766" 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=SOX4" 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=SOX4" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SOX4" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SOX4&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/PA36037" 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:11200" 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/FBgn0005612.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:98366" 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/SOX4#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:98366" 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/6659/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=6659" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00004771;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00004771 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00015716;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00015716 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-8290" 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:6659" 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=SOX4&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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184430
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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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SRY-BOX 4; SOX4
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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">
|
|
SRY-RELATED HMG-BOX GENE 4<br />
|
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ECOTROPIC VIRAL INTEGRATION SITE 16; EVI16
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SOX4" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SOX4</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/6/105?start=-3&limit=10&highlight=105">6p22.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:21593751-21598619&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'})">6:21,593,751-21,598,619</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
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Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
|
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<tbody>
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/105?start=-3&limit=10&highlight=105">
|
|
6p22.3
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Coffin-Siris syndrome 10
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/618506"> 618506 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<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/184430" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/184430" 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>
|
|
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
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|
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<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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<p>The SOX genes (so named for SRY-box) comprise a large family related by homology to the HMG-box region of the testis-determining gene SRY (<a href="/entry/480000">480000</a>). Four Sox genes were originally isolated from the mouse. These genes are autosomal or X-linked and can be divided into 2 subfamilies: the sequences of mouse Sox-1, -2, and -3 are almost identical in the conserved HMG-box motif, whereas Sox-4 seems to have diverged independently, showing 78% homology to the other 3 genes at the DNA level. <a href="#3" class="mim-tip-reference" title="Denny, P., Swift, S., Connor, F., Ashworth, A. <strong>An SRY-related gene expressed during spermatogenesis in the mouse encodes a sequence-specific DNA-binding protein.</strong> EMBO J. 11: 3705-3712, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1396566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1396566</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1992.tb05455.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1396566">Denny et al. (1992)</a> identified several other members of the Sox gene family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1396566" 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="#4" class="mim-tip-reference" title="Farr, C. J., Easty, D. J., Ragoussis, J., Collignon, J., Lovell-Badge, R., Goodfellow, P. N. <strong>Characterization and mapping of the human SOX4 gene.</strong> Mammalian Genome 4: 577-584, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8268656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8268656</a>] [<a href="https://doi.org/10.1007/BF00361388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8268656">Farr et al. (1993)</a> cloned and sequenced the human SOX4 gene. The open reading frame encoded a 474-amino acid protein, which included an HMG-box. The deduced amino acid sequence of the human SOX4 gene is consistent with its being a transcription factor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8268656" 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>SOX4 from both human and mouse was shown by <a href="#15" class="mim-tip-reference" title="van de Wetering, M., Oosterwegel, M., van Norren, K., Clevers, H. <strong>Sox-4, an Sry-like HMG box protein, is a transcriptional activator is lymphocytes.</strong> EMBO J. 12: 3847-3854, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8404853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8404853</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1993.tb06063.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8404853">van de Wetering et al. (1993)</a> to be expressed primarily in T and pre-B lymphocyte cell lines. They also showed that the mouse Sox4 protein binds with high affinity to the (A/T)(A/T)CAAAG motif found in several T-cell specific enhancers. By transient expression of chimeric Sox4 constructs, <a href="#15" class="mim-tip-reference" title="van de Wetering, M., Oosterwegel, M., van Norren, K., Clevers, H. <strong>Sox-4, an Sry-like HMG box protein, is a transcriptional activator is lymphocytes.</strong> EMBO J. 12: 3847-3854, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8404853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8404853</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1993.tb06063.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8404853">van de Wetering et al. (1993)</a> showed that Sox4 has separable DNA-binding and transactivation domains. The authors concluded that SOX4 is a lymphocyte-specific transcriptional activator. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8404853" 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 2-hybrid screen, <a href="#5" class="mim-tip-reference" title="Geijsen, N., Uings, I. J., Pals, C., Armstrong, J., McKinnon, M., Raaijmakers, J. A. M., Lammers, J.-W. J., Koenderman, L., Coffer, P. J. <strong>Cytokine-specific transcriptional regulation through an IL-5R-alpha interacting protein.</strong> Science 293: 1136-1138, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11498591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11498591</a>] [<a href="https://doi.org/10.1126/science.1059157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11498591">Geijsen et al. (2001)</a> identified the mouse transcriptional factor Sox4 as a binding partner for syntenin (SDCBP; <a href="/entry/602217">602217</a>) but not for interleukin-5 receptor-alpha (IL5RA; <a href="/entry/147851">147851</a>), which interacts with the PDZ domains of syntenin. The syntenin-Sox4 interaction occurs outside of the PDZ domains of syntenin. Luciferase reporter analysis and fluorescence microscopy showed that IL5 (<a href="/entry/147850">147850</a>), but not IL3 (<a href="/entry/147740">147740</a>), induces cytoplasmic and nuclear expression of syntenin and, in a syntenin- and cytoplasmic IL5RA-dependent manner, of Sox4. <a href="#5" class="mim-tip-reference" title="Geijsen, N., Uings, I. J., Pals, C., Armstrong, J., McKinnon, M., Raaijmakers, J. A. M., Lammers, J.-W. J., Koenderman, L., Coffer, P. J. <strong>Cytokine-specific transcriptional regulation through an IL-5R-alpha interacting protein.</strong> Science 293: 1136-1138, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11498591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11498591</a>] [<a href="https://doi.org/10.1126/science.1059157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11498591">Geijsen et al. (2001)</a> concluded that syntenin acts as an adaptor molecule in the IL5RA-mediated activation of SOX4. They also noted that mice lacking either Il5ra or Sox4 have defects in B-cell development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11498591" 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>Retroviral insertional mutagenesis in the mouse strains BXH2 and AKXD induces a high incidence of myeloid leukemia and B- and T-cell lymphoma, respectively. The retroviral integration sites in these tumors thus provide powerful genetic tags for the discovery of genes involved in cancer (<a href="#8" class="mim-tip-reference" title="Li, J., Shen, H., Himmel, K. L., Dupuy, A. J., Largaespada, D. A., Nakamura, T., Shaughnessy, J. D., Jr., Jenkins, N. A., Copeland, N. G. <strong>Leukaemia disease genes: large-scale cloning and pathway predictions.</strong> Nature Genet. 23: 348-353, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610183</a>] [<a href="https://doi.org/10.1038/15531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10610183">Li et al., 1999</a>; <a href="#7" class="mim-tip-reference" title="Hansen, G. M., Skapura, D., Justice, M. J. <strong>Genetic profile of insertion mutations in mouse leukemias and lymphomas.</strong> Genome Res. 10: 237-243, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10673281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10673281</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10673281[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/10.1101/gr.10.2.237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10673281">Hansen et al., 2000</a>). <a href="#13" class="mim-tip-reference" title="Suzuki, T., Shen, H., Akagi, K., Morse, H. C., III, Malley, J. D., Naiman, D. Q., Jenkins, N. A., Copeland, N. G. <strong>New genes involved in cancer identified by retroviral tagging.</strong> Nature Genet. 32: 166-174, 2002. Note: Erratum: Nature Genet. 32: 331 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12185365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12185365</a>] [<a href="https://doi.org/10.1038/ng949" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12185365">Suzuki et al. (2002)</a> reported a large-scale use of retroviral tagging for cancer gene discovery. Using high throughput inverse PCR, they cloned and analyzed the sequences of 884 retroviral integration sites from a tumor panel composed primarily of B-cell lymphomas. They then compared these sequences, and another 415 retroviral integration site sequences previously cloned from BXH2 myeloid leukemias and AKXD lymphomas, against the mouse genome sequence assembled by Celera. <a href="#13" class="mim-tip-reference" title="Suzuki, T., Shen, H., Akagi, K., Morse, H. C., III, Malley, J. D., Naiman, D. Q., Jenkins, N. A., Copeland, N. G. <strong>New genes involved in cancer identified by retroviral tagging.</strong> Nature Genet. 32: 166-174, 2002. Note: Erratum: Nature Genet. 32: 331 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12185365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12185365</a>] [<a href="https://doi.org/10.1038/ng949" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12185365">Suzuki et al. (2002)</a> identified 152 loci that are targets of retroviral integration in more than 1 tumor (so-called common retroviral integration sites) and therefore likely to encode cancer genes. Thirty-six common retroviral integration sites encoded genes or their homologs that were known or predicted to be involved in human cancer, whereas others encoded candidate genes that had not been examined for a role in human cancer. The studies of <a href="#13" class="mim-tip-reference" title="Suzuki, T., Shen, H., Akagi, K., Morse, H. C., III, Malley, J. D., Naiman, D. Q., Jenkins, N. A., Copeland, N. G. <strong>New genes involved in cancer identified by retroviral tagging.</strong> Nature Genet. 32: 166-174, 2002. Note: Erratum: Nature Genet. 32: 331 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12185365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12185365</a>] [<a href="https://doi.org/10.1038/ng949" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12185365">Suzuki et al. (2002)</a> demonstrated both the power of retroviral tagging for cancer gene discovery and the largely unrecognized complexity in mouse and presumably human cancer. Sox4 (Evi16), found in 55 tumors, was the most frequently targeted common retroviral integration site; 177 AKXD tumors and 17 NFS.V+ tumors were studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10610183+10673281+12185365" 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="#9" class="mim-tip-reference" title="Lund, A. H., Turner, G., Trubetskoy, A., Verhoeven, E., Wientjens, E., Hulsman, D., Russell, R., DePinho, R. A., Lenz, J., van Lohuizen, M. <strong>Genome-wide retroviral insertional tagging of genes involved in cancer in Cdkn2a-deficient mice.</strong> Nature Genet. 32: 160-165, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12185367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12185367</a>] [<a href="https://doi.org/10.1038/ng956" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12185367">Lund et al. (2002)</a> used a similar approach of insertional mutagenesis to identify loci that can participate in tumorigenesis in collaboration with loss of the Cdkn2a-encoded tumor suppressors p16ink4a and p19arf (<a href="/entry/600160">600160</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12185367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Tavazoie, S. F., Alarcon, C., Oskarsson, T., Padua, D., Wang, Q., Bos, P. D., Gerald, W. L., Massague, J. <strong>Endogenous human microRNAs that suppress breast cancer metastasis.</strong> Nature 451: 147-152, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18185580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18185580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18185580[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/10.1038/nature06487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18185580">Tavazoie et al. (2008)</a> identified miR335 (<a href="/entry/611768">611768</a>) as one of a set of microRNAs for which expression is specifically lost as human breast cancer cells develop metastatic potential. Restoration of miR335 expression in malignant cells suppressed lung and bone metastasis in human cancer cells in vivo. miR335 suppresses metastasis and migration through targeting of the progenitor cell transcription factor SOX4 and extracellular matrix component tenascin C (<a href="/entry/187380">187380</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18185580" 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="#11" class="mim-tip-reference" title="Shim, S., Kwan, K. Y., Li, M., Lefebvre, V., Sestan, N. <strong>Cis-regulatory control of corticospinal system development and evolution.</strong> Nature 486: 74-79, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22678282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22678282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22678282[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/10.1038/nature11094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22678282">Shim et al. (2012)</a> identified a conserved nonexonic element (E4), located 7.3 kb downstream of the Fezf2 (<a href="/entry/607414">607414</a>) transcription start site, that is required for the specification of corticospinal neuron identity and connectivity. <a href="#11" class="mim-tip-reference" title="Shim, S., Kwan, K. Y., Li, M., Lefebvre, V., Sestan, N. <strong>Cis-regulatory control of corticospinal system development and evolution.</strong> Nature 486: 74-79, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22678282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22678282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22678282[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/10.1038/nature11094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22678282">Shim et al. (2012)</a> found that Sox4 and Sox11 (<a href="/entry/600898">600898</a>) functionally compete with the repressor Sox5 (<a href="/entry/604975">604975</a>) in the transactivation of E4. <a href="#11" class="mim-tip-reference" title="Shim, S., Kwan, K. Y., Li, M., Lefebvre, V., Sestan, N. <strong>Cis-regulatory control of corticospinal system development and evolution.</strong> Nature 486: 74-79, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22678282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22678282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22678282[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/10.1038/nature11094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22678282">Shim et al. (2012)</a> showed that SOX4 and SOX11 are crucial in regulating reelin (RELN; <a href="/entry/600514">600514</a>) expression and the inside-out pattern of cortical layer formation, independent of E4 or Fezf2 and probably involving interactions with distinct regulatory elements. Cortex-specific double deletion of Sox4 and Sox11 led to the loss of Fezf2 expression, failed specification of corticospinal neurons and, independent of Fezf2, a reeler-like inversion of layers. Moreover, SOX4 and SOX11 have additional roles, since in mice lacking both genes, the cortex and olfactory bulb are smaller and cell death is increased. Thus, SOX4 and SOX11 have pleiotropic functions, which are probably mediated by distinct regulatory elements and downstream target genes that are involved in multiple developmental processes. <a href="#11" class="mim-tip-reference" title="Shim, S., Kwan, K. Y., Li, M., Lefebvre, V., Sestan, N. <strong>Cis-regulatory control of corticospinal system development and evolution.</strong> Nature 486: 74-79, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22678282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22678282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22678282[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/10.1038/nature11094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22678282">Shim et al. (2012)</a> showed evidence supporting the emergence of functional SOX-binding sites in E4 during tetrapod evolution, and their subsequent stabilization in mammals and possibly amniotes. <a href="#11" class="mim-tip-reference" title="Shim, S., Kwan, K. Y., Li, M., Lefebvre, V., Sestan, N. <strong>Cis-regulatory control of corticospinal system development and evolution.</strong> Nature 486: 74-79, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22678282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22678282</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22678282[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/10.1038/nature11094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22678282">Shim et al. (2012)</a> concluded that SOX transcription factors converge onto a cis-acting element of Fezf2 and form critical components of a regulatory network controlling the identity and connectivity of corticospinal neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22678282" 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 database of developmental expression in human brain, <a href="#16" class="mim-tip-reference" title="Zawerton, A., Yao, B., Yeager, J. P., Pippucci, T., Haseeb, A., Smith, J. D., Wischmann, L., Kuhl, S. J., Dean, J. C. S., Pilz, D. T., Holder, S. E., Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, McNeill, A., Graziano, C., Lefebvre, V. <strong>De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism.</strong> Am. J. Hum. Genet. 104: 246-259, 2019. Note: Erratum: Am. J. Hum. Genet. 104: 777 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30661772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30661772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30661772[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/10.1016/j.ajhg.2018.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30661772">Zawerton et al. (2019)</a> found that SOX4 expression is high in all brain regions during the first 2 trimesters of embryonic gestation and then decreases to a very low level by the third and fourth decades of life. SOX4 expression is higher in areas of very active neurogenesis, including the ventricular and subventricular zones. <a href="#16" class="mim-tip-reference" title="Zawerton, A., Yao, B., Yeager, J. P., Pippucci, T., Haseeb, A., Smith, J. D., Wischmann, L., Kuhl, S. J., Dean, J. C. S., Pilz, D. T., Holder, S. E., Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, McNeill, A., Graziano, C., Lefebvre, V. <strong>De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism.</strong> Am. J. Hum. Genet. 104: 246-259, 2019. Note: Erratum: Am. J. Hum. Genet. 104: 777 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30661772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30661772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30661772[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/10.1016/j.ajhg.2018.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30661772">Zawerton et al. (2019)</a> showed that SOX4 knockdown in Xenopus embryos interfered with brain and whole body development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30661772" 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="Gomes, A. P., Ilter, D., Low, V., Endress, J. E., Fernandez-Garcia, J., Rosenzweig, A., Schild, T., Broekaert, D., Ahmed, A., Planque, M., Elia, I., Han, J., and 9 others. <strong>Age-induced accumulation of methylmalonic acid promotes tumour progression.</strong> Nature 585: 283-287, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32814897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32814897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32814897[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/10.1038/s41586-020-2630-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32814897">Gomes et al. (2020)</a> showed that metabolic alterations that occur with age can produce a systemic environment that favors the progression and aggressiveness of tumors. Specifically, they found that methylmalonic acid (MMA) is upregulated in the serum of older people and functions as a mediator of tumor progression. <a href="#6" class="mim-tip-reference" title="Gomes, A. P., Ilter, D., Low, V., Endress, J. E., Fernandez-Garcia, J., Rosenzweig, A., Schild, T., Broekaert, D., Ahmed, A., Planque, M., Elia, I., Han, J., and 9 others. <strong>Age-induced accumulation of methylmalonic acid promotes tumour progression.</strong> Nature 585: 283-287, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32814897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32814897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32814897[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/10.1038/s41586-020-2630-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32814897">Gomes et al. (2020)</a> traced this to the ability of MMA to induce SOX4 expression and consequently to elicit transcriptional reprogramming that can endow cancer cells with aggressive properties. Thus, <a href="#6" class="mim-tip-reference" title="Gomes, A. P., Ilter, D., Low, V., Endress, J. E., Fernandez-Garcia, J., Rosenzweig, A., Schild, T., Broekaert, D., Ahmed, A., Planque, M., Elia, I., Han, J., and 9 others. <strong>Age-induced accumulation of methylmalonic acid promotes tumour progression.</strong> Nature 585: 283-287, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32814897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32814897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32814897[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/10.1038/s41586-020-2630-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32814897">Gomes et al. (2020)</a> concluded that the accumulation of MMA represents a link between aging and cancer progression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32814897" 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 study of somatic cell hybrids, <a href="#4" class="mim-tip-reference" title="Farr, C. J., Easty, D. J., Ragoussis, J., Collignon, J., Lovell-Badge, R., Goodfellow, P. N. <strong>Characterization and mapping of the human SOX4 gene.</strong> Mammalian Genome 4: 577-584, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8268656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8268656</a>] [<a href="https://doi.org/10.1007/BF00361388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8268656">Farr et al. (1993)</a> mapped the SOX4 gene to 6p, distal to the MHC region (6pter-p21.3). Fluorescence in situ hybridization (FISH) placed the gene at 6p23. <a href="#2" class="mim-tip-reference" title="Critcher, R., Stitson, R. N. M., Wade-Martins, R., Easty, D. J., Farr, C. J. <strong>Assignment of Sox4 to mouse chromosome 13 bands A3-A5 by fluorescence in situ hybridization; refinement of the human SOX4 location to 6p22.3 and of SOX20 to chromosome 17p12.3.</strong> Cytogenet. Cell Genet. 81: 294-295, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9730625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9730625</a>] [<a href="https://doi.org/10.1159/000015052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9730625">Critcher et al. (1998)</a> used FISH to refine the localization of the human SOX4 gene to 6p22.3 and to map the mouse homolog to the syntenic region of chromosome 13 (bands A3-A5). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8268656+9730625" 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>Intellectual Developmental Disorder with Speech Delay and Dysmorphic Facies</em></strong></p><p>
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<a href="#16" class="mim-tip-reference" title="Zawerton, A., Yao, B., Yeager, J. P., Pippucci, T., Haseeb, A., Smith, J. D., Wischmann, L., Kuhl, S. J., Dean, J. C. S., Pilz, D. T., Holder, S. E., Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, McNeill, A., Graziano, C., Lefebvre, V. <strong>De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism.</strong> Am. J. Hum. Genet. 104: 246-259, 2019. Note: Erratum: Am. J. Hum. Genet. 104: 777 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30661772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30661772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30661772[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/10.1016/j.ajhg.2018.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30661772">Zawerton et al. (2019)</a> reported 4 patients with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; <a href="/entry/618506">618506</a>) and de novo heterozygous mutations in the SOX4 gene (<a href="#0001">184430.0001</a>-<a href="#0004">184430.0004</a>). All variants clustered in the highly conserved SOX family-specific HMG domain. In silico tools predicted that each variant affected a distinct structural feature of this DNA-binding domain, and functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells. All variants described occurred at SOX4 residues conserved through zebrafish, and missense variants at equivalent residues of other SOX family members also cause disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30661772" 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 exome or genome sequencing in a cohort of patients with a syndromic intellectual developmental disorder, <a href="#1" class="mim-tip-reference" title="Angelozzi, M., Karvande, A., Molin, A. N., Ritter, A. L., Leonard, J. M. M., Savatt, J. M., Douglass, K., Myers, S. M., Grippa, M., Tolchin, D., Zackai, E., Donoghue, S., and 36 others. <strong>Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.</strong> J. Med. Genet. 59: 1058-1068, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35232796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35232796</a>] [<a href="https://doi.org/10.1136/jmedgenet-2021-108375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35232796">Angelozzi et al. (2022)</a> identified 17 patients with heterozygous variants in the SOX4 gene. Using an in vitro assessment of variant function, 12 of these variants were classified as pathogenic/likely pathogenic because they disrupted SOX4 transcriptional activity, whereas the others were classified as variants of uncertain significance. Among the pathogenic/likely pathogenic variants, 7 were missense variants in the HMG DNA-binding domain and 5 were stop-gain variants (1 frameshift and 4 nonsense) (see, e.g., <a href="#0005">184430.0005</a>-<a href="#0006">184430.0006</a>). When known, inheritance of the pathogenic/likely pathogenic variants was de novo or from a mosaic unaffected or a nonmosaic affected parent. The phenotype of the patients with pathogenic/likely pathogenic variants was consistent with intellectual developmental disorder with speech delay and dysmorphic facies, also called Coffin-Siris syndrome-10; however, the patients lacked the most specific features of Coffin-Siris syndrome (e.g., fifth-finger nail hypoplasia, corpus callosum agenesis, and hypertrichosis and hirsutism). Patients with variants of uncertain significance had a milder phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35232796" 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>Somatic Mutation in Lung Cancer</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Medina, P. P., Castillo, S. D., Blanco, S., Sanz-Garcia, M., Largo, C., Alvarez, S., Yokota, J., Gonzalez-Neira, A., Benitez, J., Clevers, H. C., Cigudosa, J. C., Lazo, P. A., Sanchez-Cespedes, M. <strong>The SRY-HMG box gene, SOX4, is a target of gene amplification at chromosome 6p in lung cancer.</strong> Hum. Molec. Genet. 18: 1343-1352, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19153074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19153074</a>] [<a href="https://doi.org/10.1093/hmg/ddp034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19153074">Medina et al. (2009)</a> analyzed cDNA microarrays by high-resolution comparative genome hybridization and compared DNA copy number and mRNA expression levels in lung cancer cell lines. Several amplicons had a concomitant increase in gene expression, and these regions were also found to be amplified in lung primary tumors. Within the chromosome 6p amplicon, SOX4 was overexpressed 10-fold in cells, with amplification relative to normal cells. SOX4 expression was also stronger in a fraction of lung primary tumors and lung cancer cell lines and was associated with the presence of gene amplification. Variants of SOX4 were found in lung primary tumors and cancer cell lines, including a somatic mutation that introduced a premature stop codon (ser395 to ter; S395X) at the serine-rich C-terminal domain. Although none of the variants increased the transactivation ability of SOX4, overexpression of wildtype SOX4 and of the nontruncated variants in mouse fibroblasts significantly increased the transforming ability of a weakly oncogenic RHOA (<a href="/entry/165390">165390</a>) mutant. The authors concluded that in some cases of lung cancer, SOX4 may be overexpressed due to gene amplification. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19153074" 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="#12" class="mim-tip-reference" title="Sun, B., Mallampati, S., Gong, Y., Wang, D., Lefebvre, V., Sun, X. <strong>Sox4 is required for the survival of pro-B cells.</strong> J. Immun. 190: 2080-2089, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23345330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23345330</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23345330[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/10.4049/jimmunol.1202736" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23345330">Sun et al. (2013)</a> found that mice with a conditional deletion of Sox4 in hemopoietic stem cells had almost total elimination of pro-B cells in fetal livers and adult bone marrow, resulting in a severe deficiency in later stage B cells, including circulating mature B cells. Sox4-deficient pro-B cells, particularly those expressing Kit (<a href="/entry/164920">164920</a>), readily underwent apoptosis. Kit-expressing Sox4-deficient pro-B cells had decreased activation of the Kit downstream protein Src (<a href="/entry/190090">190090</a>) and lower levels of Bcl2 (<a href="/entry/151430">151430</a>). Restoring Bcl2 allowed both pro-B-cell survival and B-cell maturation in the absence of Sox4. <a href="#12" class="mim-tip-reference" title="Sun, B., Mallampati, S., Gong, Y., Wang, D., Lefebvre, V., Sun, X. <strong>Sox4 is required for the survival of pro-B cells.</strong> J. Immun. 190: 2080-2089, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23345330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23345330</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23345330[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/10.4049/jimmunol.1202736" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23345330">Sun et al. (2013)</a> concluded that SOX4 is required for pro-B-cell survival and that SOX4 may functionally interact with KIT and BCL2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23345330" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1334099693 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1334099693;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1334099693?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1334099693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1334099693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000660880 OR RCV000787353 OR RCV001261716" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000660880, RCV000787353, RCV001261716" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000660880...</a>
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<p>In an Italian boy with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; <a href="/entry/618506">618506</a>), <a href="#16" class="mim-tip-reference" title="Zawerton, A., Yao, B., Yeager, J. P., Pippucci, T., Haseeb, A., Smith, J. D., Wischmann, L., Kuhl, S. J., Dean, J. C. S., Pilz, D. T., Holder, S. E., Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, McNeill, A., Graziano, C., Lefebvre, V. <strong>De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism.</strong> Am. J. Hum. Genet. 104: 246-259, 2019. Note: Erratum: Am. J. Hum. Genet. 104: 777 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30661772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30661772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30661772[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/10.1016/j.ajhg.2018.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30661772">Zawerton et al. (2019)</a> identified a heterozygous C-to-A transversion at nucleotide 198 (c.198C-A, NM_003107.2) of the SOX4 gene, resulting in a phenylalanine-to-leucine substitution at codon 66 (F66L). This variant occurred de novo and was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30661772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1464282327 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1464282327;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1464282327?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1464282327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1464282327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000787354 OR RCV001261717" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000787354, RCV001261717" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000787354...</a>
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<p>In a Scottish-Hungarian boy with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; <a href="/entry/618506">618506</a>), <a href="#16" class="mim-tip-reference" title="Zawerton, A., Yao, B., Yeager, J. P., Pippucci, T., Haseeb, A., Smith, J. D., Wischmann, L., Kuhl, S. J., Dean, J. C. S., Pilz, D. T., Holder, S. E., Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, McNeill, A., Graziano, C., Lefebvre, V. <strong>De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism.</strong> Am. J. Hum. Genet. 104: 246-259, 2019. Note: Erratum: Am. J. Hum. Genet. 104: 777 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30661772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30661772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30661772[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/10.1016/j.ajhg.2018.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30661772">Zawerton et al. (2019)</a> identified a heterozygous G-to-C transversion at nucleotide 334 (c.334G-C, NM_003107.2) of the SOX4 gene, resulting in an alanine-to-proline substitution at codon 112 (A112P). This variant occurred de novo and was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30661772" 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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<span class="mim-font">
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<strong>.0003 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES</strong>
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SOX4, ILE59SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1582601669 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1582601669;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1582601669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1582601669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000787355 OR RCV001261718" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000787355, RCV001261718" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000787355...</a>
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<span class="mim-text-font">
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<p>In a French girl with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; <a href="/entry/618506">618506</a>), <a href="#16" class="mim-tip-reference" title="Zawerton, A., Yao, B., Yeager, J. P., Pippucci, T., Haseeb, A., Smith, J. D., Wischmann, L., Kuhl, S. J., Dean, J. C. S., Pilz, D. T., Holder, S. E., Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, McNeill, A., Graziano, C., Lefebvre, V. <strong>De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism.</strong> Am. J. Hum. Genet. 104: 246-259, 2019. Note: Erratum: Am. J. Hum. Genet. 104: 777 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30661772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30661772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30661772[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/10.1016/j.ajhg.2018.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30661772">Zawerton et al. (2019)</a> identified a heterozygous T-to-G transversion at nucleotide 176 (c.176T-G, NM_003107.2) of the SOX4 gene, resulting in an isoleucine-to-serine substitution at codon 59 (I59S). This variant occurred de novo and was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30661772" 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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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES</strong>
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SOX4, LYS105ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1582601747 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1582601747;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1582601747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1582601747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000787356 OR RCV001261719" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000787356, RCV001261719" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000787356...</a>
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<p>In a Scottish girl with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; <a href="/entry/618506">618506</a>), <a href="#16" class="mim-tip-reference" title="Zawerton, A., Yao, B., Yeager, J. P., Pippucci, T., Haseeb, A., Smith, J. D., Wischmann, L., Kuhl, S. J., Dean, J. C. S., Pilz, D. T., Holder, S. E., Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, McNeill, A., Graziano, C., Lefebvre, V. <strong>De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism.</strong> Am. J. Hum. Genet. 104: 246-259, 2019. Note: Erratum: Am. J. Hum. Genet. 104: 777 only, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30661772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30661772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30661772[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/10.1016/j.ajhg.2018.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30661772">Zawerton et al. (2019)</a> identified a heterozygous G-to-T transversion at nucleotide 315 (c.315G-T, NM_003107.2) of the SOX4 gene, resulting in a lysine-to-asparagine substitution at codon 105 (K105N). This variant occurred de novo and was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30661772" 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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<a id="0005" class="mim-anchor"></a>
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<h4>
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<strong>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES</strong>
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SOX4, GLU445TER
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003152402 OR RCV004721158" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003152402, RCV004721158" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003152402...</a>
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<p>In a man (patient 21) with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; <a href="/entry/618506">618506</a>), <a href="#1" class="mim-tip-reference" title="Angelozzi, M., Karvande, A., Molin, A. N., Ritter, A. L., Leonard, J. M. M., Savatt, J. M., Douglass, K., Myers, S. M., Grippa, M., Tolchin, D., Zackai, E., Donoghue, S., and 36 others. <strong>Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.</strong> J. Med. Genet. 59: 1058-1068, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35232796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35232796</a>] [<a href="https://doi.org/10.1136/jmedgenet-2021-108375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35232796">Angelozzi et al. (2022)</a> identified a c.1333G-T transversion in the SOX4 gene, resulting in a glu445-to-ter (E445X) substitution. The variant was inherited from a likely mosaic unaffected father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35232796" 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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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES</strong>
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SOX4, 4-BP DEL/4-BP INS, NT130
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003152403" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003152403" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003152403</a>
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<p>In an adolescent male (patient 17) with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; <a href="/entry/618506">618506</a>), <a href="#1" class="mim-tip-reference" title="Angelozzi, M., Karvande, A., Molin, A. N., Ritter, A. L., Leonard, J. M. M., Savatt, J. M., Douglass, K., Myers, S. M., Grippa, M., Tolchin, D., Zackai, E., Donoghue, S., and 36 others. <strong>Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.</strong> J. Med. Genet. 59: 1058-1068, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35232796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35232796</a>] [<a href="https://doi.org/10.1136/jmedgenet-2021-108375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35232796">Angelozzi et al. (2022)</a> identified an insertion/deletion mutation (c.130_133delGGCAinsCGCT) in the SOX4 gene, resulting in a frameshift (Gly44ArgfsTer2) and premature termination. The variant was inherited from an unaffected mother who was mosaic for the variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35232796" 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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van de Wetering, M., Oosterwegel, M., van Norren, K., Clevers, H.
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<strong>Sox-4, an Sry-like HMG box protein, is a transcriptional activator is lymphocytes.</strong>
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EMBO J. 12: 3847-3854, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8404853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8404853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8404853" 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/j.1460-2075.1993.tb06063.x" target="_blank">Full Text</a>]
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<a id="Zawerton2019" class="mim-anchor"></a>
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Zawerton, A., Yao, B., Yeager, J. P., Pippucci, T., Haseeb, A., Smith, J. D., Wischmann, L., Kuhl, S. J., Dean, J. C. S., Pilz, D. T., Holder, S. E., Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, McNeill, A., Graziano, C., Lefebvre, V.
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<strong>De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism.</strong>
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Am. J. Hum. Genet. 104: 246-259, 2019. Note: Erratum: Am. J. Hum. Genet. 104: 777 only, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30661772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30661772</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30661772[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30661772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2018.12.014" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 02/01/2023
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Ada Hamosh - updated : 12/11/2020<br>Ada Hamosh - updated : 07/16/2019<br>Paul J. Converse - updated : 08/14/2013<br>Ada Hamosh - updated : 7/17/2012<br>George E. Tiller - updated : 10/14/2009<br>Ada Hamosh - updated : 1/23/2008<br>Victor A. McKusick - updated : 8/29/2002<br>Paul J. Converse - updated : 8/16/2001<br>Carol A. Bocchini - updated : 9/28/1998
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 11/5/1993
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carol : 02/02/2023
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carol : 02/01/2023<br>carol : 11/10/2022<br>carol : 11/09/2022<br>alopez : 12/11/2020<br>alopez : 07/16/2019<br>mgross : 08/14/2013<br>alopez : 7/17/2012<br>terry : 7/17/2012<br>mgross : 10/20/2009<br>terry : 10/14/2009<br>alopez : 2/4/2008<br>terry : 1/23/2008<br>terry : 11/22/2002<br>alopez : 10/2/2002<br>tkritzer : 9/5/2002<br>tkritzer : 9/3/2002<br>terry : 8/29/2002<br>mgross : 8/16/2001<br>dkim : 12/4/1998<br>dkim : 9/29/1998<br>carol : 9/28/1998<br>mark : 6/25/1996<br>mark : 11/3/1995<br>carol : 11/5/1993
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<strong>*</strong> 184430
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SRY-BOX 4; SOX4
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SRY-RELATED HMG-BOX GENE 4<br />
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ECOTROPIC VIRAL INTEGRATION SITE 16; EVI16
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<strong><em>HGNC Approved Gene Symbol: SOX4</em></strong>
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Cytogenetic location: 6p22.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:21,593,751-21,598,619 </span>
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<span class="small">(from NCBI)</span>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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6p22.3
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Coffin-Siris syndrome 10
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<span class="mim-font">
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618506
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Autosomal dominant
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3
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>The SOX genes (so named for SRY-box) comprise a large family related by homology to the HMG-box region of the testis-determining gene SRY (480000). Four Sox genes were originally isolated from the mouse. These genes are autosomal or X-linked and can be divided into 2 subfamilies: the sequences of mouse Sox-1, -2, and -3 are almost identical in the conserved HMG-box motif, whereas Sox-4 seems to have diverged independently, showing 78% homology to the other 3 genes at the DNA level. Denny et al. (1992) identified several other members of the Sox gene family. </p><p>Farr et al. (1993) cloned and sequenced the human SOX4 gene. The open reading frame encoded a 474-amino acid protein, which included an HMG-box. The deduced amino acid sequence of the human SOX4 gene is consistent with its being a transcription factor. </p>
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<strong>Gene Function</strong>
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<p>SOX4 from both human and mouse was shown by van de Wetering et al. (1993) to be expressed primarily in T and pre-B lymphocyte cell lines. They also showed that the mouse Sox4 protein binds with high affinity to the (A/T)(A/T)CAAAG motif found in several T-cell specific enhancers. By transient expression of chimeric Sox4 constructs, van de Wetering et al. (1993) showed that Sox4 has separable DNA-binding and transactivation domains. The authors concluded that SOX4 is a lymphocyte-specific transcriptional activator. </p><p>Using a yeast 2-hybrid screen, Geijsen et al. (2001) identified the mouse transcriptional factor Sox4 as a binding partner for syntenin (SDCBP; 602217) but not for interleukin-5 receptor-alpha (IL5RA; 147851), which interacts with the PDZ domains of syntenin. The syntenin-Sox4 interaction occurs outside of the PDZ domains of syntenin. Luciferase reporter analysis and fluorescence microscopy showed that IL5 (147850), but not IL3 (147740), induces cytoplasmic and nuclear expression of syntenin and, in a syntenin- and cytoplasmic IL5RA-dependent manner, of Sox4. Geijsen et al. (2001) concluded that syntenin acts as an adaptor molecule in the IL5RA-mediated activation of SOX4. They also noted that mice lacking either Il5ra or Sox4 have defects in B-cell development. </p><p>Retroviral insertional mutagenesis in the mouse strains BXH2 and AKXD induces a high incidence of myeloid leukemia and B- and T-cell lymphoma, respectively. The retroviral integration sites in these tumors thus provide powerful genetic tags for the discovery of genes involved in cancer (Li et al., 1999; Hansen et al., 2000). Suzuki et al. (2002) reported a large-scale use of retroviral tagging for cancer gene discovery. Using high throughput inverse PCR, they cloned and analyzed the sequences of 884 retroviral integration sites from a tumor panel composed primarily of B-cell lymphomas. They then compared these sequences, and another 415 retroviral integration site sequences previously cloned from BXH2 myeloid leukemias and AKXD lymphomas, against the mouse genome sequence assembled by Celera. Suzuki et al. (2002) identified 152 loci that are targets of retroviral integration in more than 1 tumor (so-called common retroviral integration sites) and therefore likely to encode cancer genes. Thirty-six common retroviral integration sites encoded genes or their homologs that were known or predicted to be involved in human cancer, whereas others encoded candidate genes that had not been examined for a role in human cancer. The studies of Suzuki et al. (2002) demonstrated both the power of retroviral tagging for cancer gene discovery and the largely unrecognized complexity in mouse and presumably human cancer. Sox4 (Evi16), found in 55 tumors, was the most frequently targeted common retroviral integration site; 177 AKXD tumors and 17 NFS.V+ tumors were studied. </p><p>Lund et al. (2002) used a similar approach of insertional mutagenesis to identify loci that can participate in tumorigenesis in collaboration with loss of the Cdkn2a-encoded tumor suppressors p16ink4a and p19arf (600160). </p><p>Tavazoie et al. (2008) identified miR335 (611768) as one of a set of microRNAs for which expression is specifically lost as human breast cancer cells develop metastatic potential. Restoration of miR335 expression in malignant cells suppressed lung and bone metastasis in human cancer cells in vivo. miR335 suppresses metastasis and migration through targeting of the progenitor cell transcription factor SOX4 and extracellular matrix component tenascin C (187380). </p><p>Shim et al. (2012) identified a conserved nonexonic element (E4), located 7.3 kb downstream of the Fezf2 (607414) transcription start site, that is required for the specification of corticospinal neuron identity and connectivity. Shim et al. (2012) found that Sox4 and Sox11 (600898) functionally compete with the repressor Sox5 (604975) in the transactivation of E4. Shim et al. (2012) showed that SOX4 and SOX11 are crucial in regulating reelin (RELN; 600514) expression and the inside-out pattern of cortical layer formation, independent of E4 or Fezf2 and probably involving interactions with distinct regulatory elements. Cortex-specific double deletion of Sox4 and Sox11 led to the loss of Fezf2 expression, failed specification of corticospinal neurons and, independent of Fezf2, a reeler-like inversion of layers. Moreover, SOX4 and SOX11 have additional roles, since in mice lacking both genes, the cortex and olfactory bulb are smaller and cell death is increased. Thus, SOX4 and SOX11 have pleiotropic functions, which are probably mediated by distinct regulatory elements and downstream target genes that are involved in multiple developmental processes. Shim et al. (2012) showed evidence supporting the emergence of functional SOX-binding sites in E4 during tetrapod evolution, and their subsequent stabilization in mammals and possibly amniotes. Shim et al. (2012) concluded that SOX transcription factors converge onto a cis-acting element of Fezf2 and form critical components of a regulatory network controlling the identity and connectivity of corticospinal neurons. </p><p>Using a database of developmental expression in human brain, Zawerton et al. (2019) found that SOX4 expression is high in all brain regions during the first 2 trimesters of embryonic gestation and then decreases to a very low level by the third and fourth decades of life. SOX4 expression is higher in areas of very active neurogenesis, including the ventricular and subventricular zones. Zawerton et al. (2019) showed that SOX4 knockdown in Xenopus embryos interfered with brain and whole body development. </p><p>Gomes et al. (2020) showed that metabolic alterations that occur with age can produce a systemic environment that favors the progression and aggressiveness of tumors. Specifically, they found that methylmalonic acid (MMA) is upregulated in the serum of older people and functions as a mediator of tumor progression. Gomes et al. (2020) traced this to the ability of MMA to induce SOX4 expression and consequently to elicit transcriptional reprogramming that can endow cancer cells with aggressive properties. Thus, Gomes et al. (2020) concluded that the accumulation of MMA represents a link between aging and cancer progression. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>By study of somatic cell hybrids, Farr et al. (1993) mapped the SOX4 gene to 6p, distal to the MHC region (6pter-p21.3). Fluorescence in situ hybridization (FISH) placed the gene at 6p23. Critcher et al. (1998) used FISH to refine the localization of the human SOX4 gene to 6p22.3 and to map the mouse homolog to the syntenic region of chromosome 13 (bands A3-A5). </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Intellectual Developmental Disorder with Speech Delay and Dysmorphic Facies</em></strong></p><p>
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Zawerton et al. (2019) reported 4 patients with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; 618506) and de novo heterozygous mutations in the SOX4 gene (184430.0001-184430.0004). All variants clustered in the highly conserved SOX family-specific HMG domain. In silico tools predicted that each variant affected a distinct structural feature of this DNA-binding domain, and functional assays demonstrated that the SOX4 proteins carrying these variants were unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells. All variants described occurred at SOX4 residues conserved through zebrafish, and missense variants at equivalent residues of other SOX family members also cause disease. </p><p>Using exome or genome sequencing in a cohort of patients with a syndromic intellectual developmental disorder, Angelozzi et al. (2022) identified 17 patients with heterozygous variants in the SOX4 gene. Using an in vitro assessment of variant function, 12 of these variants were classified as pathogenic/likely pathogenic because they disrupted SOX4 transcriptional activity, whereas the others were classified as variants of uncertain significance. Among the pathogenic/likely pathogenic variants, 7 were missense variants in the HMG DNA-binding domain and 5 were stop-gain variants (1 frameshift and 4 nonsense) (see, e.g., 184430.0005-184430.0006). When known, inheritance of the pathogenic/likely pathogenic variants was de novo or from a mosaic unaffected or a nonmosaic affected parent. The phenotype of the patients with pathogenic/likely pathogenic variants was consistent with intellectual developmental disorder with speech delay and dysmorphic facies, also called Coffin-Siris syndrome-10; however, the patients lacked the most specific features of Coffin-Siris syndrome (e.g., fifth-finger nail hypoplasia, corpus callosum agenesis, and hypertrichosis and hirsutism). Patients with variants of uncertain significance had a milder phenotype. </p><p><strong><em>Somatic Mutation in Lung Cancer</em></strong></p><p>
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Medina et al. (2009) analyzed cDNA microarrays by high-resolution comparative genome hybridization and compared DNA copy number and mRNA expression levels in lung cancer cell lines. Several amplicons had a concomitant increase in gene expression, and these regions were also found to be amplified in lung primary tumors. Within the chromosome 6p amplicon, SOX4 was overexpressed 10-fold in cells, with amplification relative to normal cells. SOX4 expression was also stronger in a fraction of lung primary tumors and lung cancer cell lines and was associated with the presence of gene amplification. Variants of SOX4 were found in lung primary tumors and cancer cell lines, including a somatic mutation that introduced a premature stop codon (ser395 to ter; S395X) at the serine-rich C-terminal domain. Although none of the variants increased the transactivation ability of SOX4, overexpression of wildtype SOX4 and of the nontruncated variants in mouse fibroblasts significantly increased the transforming ability of a weakly oncogenic RHOA (165390) mutant. The authors concluded that in some cases of lung cancer, SOX4 may be overexpressed due to gene amplification. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sun et al. (2013) found that mice with a conditional deletion of Sox4 in hemopoietic stem cells had almost total elimination of pro-B cells in fetal livers and adult bone marrow, resulting in a severe deficiency in later stage B cells, including circulating mature B cells. Sox4-deficient pro-B cells, particularly those expressing Kit (164920), readily underwent apoptosis. Kit-expressing Sox4-deficient pro-B cells had decreased activation of the Kit downstream protein Src (190090) and lower levels of Bcl2 (151430). Restoring Bcl2 allowed both pro-B-cell survival and B-cell maturation in the absence of Sox4. Sun et al. (2013) concluded that SOX4 is required for pro-B-cell survival and that SOX4 may functionally interact with KIT and BCL2. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SOX4, PHE66LEU
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<br />
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SNP: rs1334099693,
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gnomAD: rs1334099693,
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ClinVar: RCV000660880, RCV000787353, RCV001261716
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Italian boy with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; 618506), Zawerton et al. (2019) identified a heterozygous C-to-A transversion at nucleotide 198 (c.198C-A, NM_003107.2) of the SOX4 gene, resulting in a phenylalanine-to-leucine substitution at codon 66 (F66L). This variant occurred de novo and was not present in the gnomAD database. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SOX4, ALA112PRO
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<br />
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SNP: rs1464282327,
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gnomAD: rs1464282327,
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ClinVar: RCV000787354, RCV001261717
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Scottish-Hungarian boy with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; 618506), Zawerton et al. (2019) identified a heterozygous G-to-C transversion at nucleotide 334 (c.334G-C, NM_003107.2) of the SOX4 gene, resulting in an alanine-to-proline substitution at codon 112 (A112P). This variant occurred de novo and was not present in the gnomAD database. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SOX4, ILE59SER
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<br />
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SNP: rs1582601669,
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ClinVar: RCV000787355, RCV001261718
|
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a French girl with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; 618506), Zawerton et al. (2019) identified a heterozygous T-to-G transversion at nucleotide 176 (c.176T-G, NM_003107.2) of the SOX4 gene, resulting in an isoleucine-to-serine substitution at codon 59 (I59S). This variant occurred de novo and was not present in the gnomAD database. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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SOX4, LYS105ASN
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<br />
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|
|
SNP: rs1582601747,
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|
|
|
|
|
|
ClinVar: RCV000787356, RCV001261719
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Scottish girl with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; 618506), Zawerton et al. (2019) identified a heterozygous G-to-T transversion at nucleotide 315 (c.315G-T, NM_003107.2) of the SOX4 gene, resulting in a lysine-to-asparagine substitution at codon 105 (K105N). This variant occurred de novo and was not present in the gnomAD database. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SOX4, GLU445TER
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV003152402, RCV004721158
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a man (patient 21) with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; 618506), Angelozzi et al. (2022) identified a c.1333G-T transversion in the SOX4 gene, resulting in a glu445-to-ter (E445X) substitution. The variant was inherited from a likely mosaic unaffected father. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SOX4, 4-BP DEL/4-BP INS, NT130
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV003152403
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an adolescent male (patient 17) with intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF; 618506), Angelozzi et al. (2022) identified an insertion/deletion mutation (c.130_133delGGCAinsCGCT) in the SOX4 gene, resulting in a frameshift (Gly44ArgfsTer2) and premature termination. The variant was inherited from an unaffected mother who was mosaic for the variant. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
|
|
</div>
|
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|
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|
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|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Angelozzi, M., Karvande, A., Molin, A. N., Ritter, A. L., Leonard, J. M. M., Savatt, J. M., Douglass, K., Myers, S. M., Grippa, M., Tolchin, D., Zackai, E., Donoghue, S., and 36 others.
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|
<strong>Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.</strong>
|
|
J. Med. Genet. 59: 1058-1068, 2022.
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[PubMed: 35232796]
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[Full Text: https://doi.org/10.1136/jmedgenet-2021-108375]
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|
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</p>
|
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</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Critcher, R., Stitson, R. N. M., Wade-Martins, R., Easty, D. J., Farr, C. J.
|
|
<strong>Assignment of Sox4 to mouse chromosome 13 bands A3-A5 by fluorescence in situ hybridization; refinement of the human SOX4 location to 6p22.3 and of SOX20 to chromosome 17p12.3.</strong>
|
|
Cytogenet. Cell Genet. 81: 294-295, 1998.
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[PubMed: 9730625]
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[Full Text: https://doi.org/10.1159/000015052]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Denny, P., Swift, S., Connor, F., Ashworth, A.
|
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<strong>An SRY-related gene expressed during spermatogenesis in the mouse encodes a sequence-specific DNA-binding protein.</strong>
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EMBO J. 11: 3705-3712, 1992.
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[PubMed: 1396566]
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[Full Text: https://doi.org/10.1002/j.1460-2075.1992.tb05455.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Farr, C. J., Easty, D. J., Ragoussis, J., Collignon, J., Lovell-Badge, R., Goodfellow, P. N.
|
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<strong>Characterization and mapping of the human SOX4 gene.</strong>
|
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Mammalian Genome 4: 577-584, 1993.
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[PubMed: 8268656]
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[Full Text: https://doi.org/10.1007/BF00361388]
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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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Geijsen, N., Uings, I. J., Pals, C., Armstrong, J., McKinnon, M., Raaijmakers, J. A. M., Lammers, J.-W. J., Koenderman, L., Coffer, P. J.
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<strong>Cytokine-specific transcriptional regulation through an IL-5R-alpha interacting protein.</strong>
|
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Science 293: 1136-1138, 2001.
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[PubMed: 11498591]
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[Full Text: https://doi.org/10.1126/science.1059157]
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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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Gomes, A. P., Ilter, D., Low, V., Endress, J. E., Fernandez-Garcia, J., Rosenzweig, A., Schild, T., Broekaert, D., Ahmed, A., Planque, M., Elia, I., Han, J., and 9 others.
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<strong>Age-induced accumulation of methylmalonic acid promotes tumour progression.</strong>
|
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Nature 585: 283-287, 2020.
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[PubMed: 32814897]
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[Full Text: https://doi.org/10.1038/s41586-020-2630-0]
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|
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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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Hansen, G. M., Skapura, D., Justice, M. J.
|
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<strong>Genetic profile of insertion mutations in mouse leukemias and lymphomas.</strong>
|
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Genome Res. 10: 237-243, 2000.
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[PubMed: 10673281]
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[Full Text: https://doi.org/10.1101/gr.10.2.237]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Li, J., Shen, H., Himmel, K. L., Dupuy, A. J., Largaespada, D. A., Nakamura, T., Shaughnessy, J. D., Jr., Jenkins, N. A., Copeland, N. G.
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<strong>Leukaemia disease genes: large-scale cloning and pathway predictions.</strong>
|
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Nature Genet. 23: 348-353, 1999.
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[PubMed: 10610183]
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[Full Text: https://doi.org/10.1038/15531]
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</p>
|
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</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Lund, A. H., Turner, G., Trubetskoy, A., Verhoeven, E., Wientjens, E., Hulsman, D., Russell, R., DePinho, R. A., Lenz, J., van Lohuizen, M.
|
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<strong>Genome-wide retroviral insertional tagging of genes involved in cancer in Cdkn2a-deficient mice.</strong>
|
|
Nature Genet. 32: 160-165, 2002.
|
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|
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|
|
[PubMed: 12185367]
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[Full Text: https://doi.org/10.1038/ng956]
|
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|
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Medina, P. P., Castillo, S. D., Blanco, S., Sanz-Garcia, M., Largo, C., Alvarez, S., Yokota, J., Gonzalez-Neira, A., Benitez, J., Clevers, H. C., Cigudosa, J. C., Lazo, P. A., Sanchez-Cespedes, M.
|
|
<strong>The SRY-HMG box gene, SOX4, is a target of gene amplification at chromosome 6p in lung cancer.</strong>
|
|
Hum. Molec. Genet. 18: 1343-1352, 2009.
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|
|
|
|
[PubMed: 19153074]
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[Full Text: https://doi.org/10.1093/hmg/ddp034]
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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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Shim, S., Kwan, K. Y., Li, M., Lefebvre, V., Sestan, N.
|
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<strong>Cis-regulatory control of corticospinal system development and evolution.</strong>
|
|
Nature 486: 74-79, 2012.
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[PubMed: 22678282]
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|
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[Full Text: https://doi.org/10.1038/nature11094]
|
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|
|
</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Sun, B., Mallampati, S., Gong, Y., Wang, D., Lefebvre, V., Sun, X.
|
|
<strong>Sox4 is required for the survival of pro-B cells.</strong>
|
|
J. Immun. 190: 2080-2089, 2013.
|
|
|
|
|
|
[PubMed: 23345330]
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|
|
[Full Text: https://doi.org/10.4049/jimmunol.1202736]
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|
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</p>
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|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Suzuki, T., Shen, H., Akagi, K., Morse, H. C., III, Malley, J. D., Naiman, D. Q., Jenkins, N. A., Copeland, N. G.
|
|
<strong>New genes involved in cancer identified by retroviral tagging.</strong>
|
|
Nature Genet. 32: 166-174, 2002. Note: Erratum: Nature Genet. 32: 331 only, 2002.
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|
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|
|
[PubMed: 12185365]
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|
|
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|
|
[Full Text: https://doi.org/10.1038/ng949]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tavazoie, S. F., Alarcon, C., Oskarsson, T., Padua, D., Wang, Q., Bos, P. D., Gerald, W. L., Massague, J.
|
|
<strong>Endogenous human microRNAs that suppress breast cancer metastasis.</strong>
|
|
Nature 451: 147-152, 2008.
|
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|
|
[PubMed: 18185580]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature06487]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van de Wetering, M., Oosterwegel, M., van Norren, K., Clevers, H.
|
|
<strong>Sox-4, an Sry-like HMG box protein, is a transcriptional activator is lymphocytes.</strong>
|
|
EMBO J. 12: 3847-3854, 1993.
|
|
|
|
|
|
[PubMed: 8404853]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/j.1460-2075.1993.tb06063.x]
|
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|
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|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
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Zawerton, A., Yao, B., Yeager, J. P., Pippucci, T., Haseeb, A., Smith, J. D., Wischmann, L., Kuhl, S. J., Dean, J. C. S., Pilz, D. T., Holder, S. E., Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, McNeill, A., Graziano, C., Lefebvre, V.
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<strong>De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism.</strong>
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Am. J. Hum. Genet. 104: 246-259, 2019. Note: Erratum: Am. J. Hum. Genet. 104: 777 only, 2019.
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[PubMed: 30661772]
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[Full Text: https://doi.org/10.1016/j.ajhg.2018.12.014]
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