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Entry
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- *601755 - ESS2 SPLICING FACTOR HOMOLOG; ESS2
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- OMIM
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<p>
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<span class="h4">*601755</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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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 role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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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 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=ENSG00000100056;t=ENST00000252137" 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=8220" 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=601755" 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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<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=ENSG00000100056;t=ENST00000252137" 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_022719,NR_134304,XM_005261282,XM_006724329,XM_011530403,XM_011530404,XM_047441524" 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_022719" 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=601755" 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=03452&isoform_id=03452_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/ESS2" 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/12804313,13027630,16306834,17466940,27805463,47678219,119623458,119623459,119623460,119623461,193788276,530426297,578837414,768025901,768025907,2217340239,2462585581,2462585583,2462585585,2462585587,2462585589" 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/Q96DF8" 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 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=8220" 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=ENSG00000100056;t=ENST00000252137" 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=ESS2" 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=ESS2" 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+8220" 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/ESS2" 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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<div><a href="https://www.ncbi.nlm.nih.gov/gene/8220" 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=chr22&hgg_gene=ENST00000252137.11&hgg_start=19130279&hgg_end=19144651&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=601755[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 class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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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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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601755[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000100056" 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=ESS2" 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=ESS2" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ESS2&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/PA134913100" 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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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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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<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:16817" 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/FBgn0023506.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:107854" 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/ESS2#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:107854" 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/8220/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=8220" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00018371;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-2843" 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 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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</a>
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<div><a href="https://reactome.org/content/query?q=ESS2&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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<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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<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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<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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601755
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</span>
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</span>
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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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ESS2 SPLICING FACTOR HOMOLOG; ESS2
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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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<div>
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<h4>
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<span class="mim-font">
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ESS2 SPLICING FACTOR, XENOPUS, HOMOLOG OF<br />
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DIGEORGE SYNDROME CRITICAL REGION GENE DGSI; DGSI<br />
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DIGEORGE SYNDROME CRITICAL REGION GENE 14; DGCR14<br />
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ES2
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ESS2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ESS2</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/22/35?start=-3&limit=10&highlight=35">22q11.21</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:19130279-19144651&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'})">22:19,130,279-19,144,651</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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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>A group of developmental disorders, sometimes given the acronym of CATCH22 and including DiGeorge syndrome (DGS; <a href="/entry/188400">188400</a>), velocardiofacial syndrome (VCFS; <a href="/entry/192430">192430</a>), conotruncal anomaly face syndrome (CTAFS), and some familial or sporadic conotruncal cardiac defects (<a href="/entry/217095">217095</a>), has been associated with microdeletion of 22q11.2. <a href="#3" class="mim-tip-reference" title="Gong, W., Emanuel, B. S., Galili, N., Kim, D. H., Roe, B., Driscoll, D. A., Budarf, M. L. <strong>Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.</strong> Hum. Molec. Genet. 6: 267-276, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063747</a>] [<a href="https://doi.org/10.1093/hmg/6.2.267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9063747">Gong et al. (1997)</a> noted that the proximal and distal boundaries of the smallest region of deletion overlap (SRDO, approximately 300 to 400 kb) had been defined based on breakpoint mapping data from patients with DGS/VCFS. This region was narrowed to 250 kb (minimal DGS critical region, or MDGCR) by analysis of an unbalanced 15;22 translocation in a VCFS patient. Genes that have been identified within the MDGCR include DGCR2 (<a href="/entry/600594">600594</a>), the citrate transport protein gene (<a href="/entry/190315">190315</a>), the clathrin heavy chain-like gene (<a href="/entry/601273">601273</a>), and DGCR5. <a href="#2" class="mim-tip-reference" title="Gong, W., Emanuel, B. S., Collins, J., Kim, D. H., Wang, Z., Chen, F., Zhang, G., Roe, B., Budarf, M. L. <strong>A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.</strong> Hum. Molec. Genet. 5: 789-800, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8776594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8776594</a>] [<a href="https://doi.org/10.1093/hmg/5.6.789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8776594">Gong et al. (1996)</a> identified several novel transcription units within the MDGCR, including a gene they designated DGSI. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8776594+9063747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening for expressed sequences in the SRDO, <a href="#6" class="mim-tip-reference" title="Lindsay, E. A., Rizzu, P., Antonacci, R., Jurecic, V., Delmas-Mata, J., Lee, C.-C., Kim, U.-J., Scambler, P. J., Baldini, A. <strong>A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart.</strong> Genomics 32: 104-112, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786095</a>] [<a href="https://doi.org/10.1006/geno.1996.0082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786095">Lindsay et al. (1996)</a> identified 6 distinct transcripts that were expressed in heart, including DGCR2, TUPLE1 (<a href="/entry/600237">600237</a>), and ES2, which is identical to DGSI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening a human heart cDNA library and a mouse genomic library, <a href="#7" class="mim-tip-reference" title="Rizzu, P., Lindsay, E. A., Taylor, C., O'Donnell, H., Levy, A., Scambler, P., Baldini, A. <strong>Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and velocardiofacial syndromes conserved in C. elegans.</strong> Mammalian Genome 7: 639-643, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8703114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8703114</a>] [<a href="https://doi.org/10.1007/s003359900197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8703114">Rizzu et al. (1996)</a> obtained cDNAs encoding mouse and human ES2. Sequence analysis predicted that human ES2 is a 476-amino acid protein. Northern blot analysis detected a major 2-kb ES2 transcript in heart, brain, and skeletal muscle, with lower expression in placenta. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8703114" 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="#3" class="mim-tip-reference" title="Gong, W., Emanuel, B. S., Galili, N., Kim, D. H., Roe, B., Driscoll, D. A., Budarf, M. L. <strong>Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.</strong> Hum. Molec. Genet. 6: 267-276, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063747</a>] [<a href="https://doi.org/10.1093/hmg/6.2.267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9063747">Gong et al. (1997)</a> isolated cDNAs encoding human and mouse DGSI. Comparison of their predicted amino acid sequences indicated that DGSI is highly conserved. The predicted mouse protein contains 479 amino acids with 93.2% identity to the human DGSI gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9063747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Lindsay, E. A., Harvey, E. L., Scambler, P. J., Baldini, A. <strong>ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene.</strong> Hum. Molec. Genet. 7: 629-635, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9499415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9499415</a>] [<a href="https://doi.org/10.1093/hmg/7.4.629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9499415">Lindsay et al. (1998)</a> determined that the 480-amino acid mouse Es2 protein is 93% identical to the human protein and contains a coiled-coil motif. They also identified 2 splice variants of Es2. Fluorescence microscopy demonstrated a nuclear localization. In situ hybridization analysis showed embryonic Es2 expression that was highest in the pons, with lower levels in brain, spinal cord, developing face, kidney cortex, and thymus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9499415" 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="#3" class="mim-tip-reference" title="Gong, W., Emanuel, B. S., Galili, N., Kim, D. H., Roe, B., Driscoll, D. A., Budarf, M. L. <strong>Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.</strong> Hum. Molec. Genet. 6: 267-276, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063747</a>] [<a href="https://doi.org/10.1093/hmg/6.2.267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9063747">Gong et al. (1997)</a> determined that the DGSI gene contains 9 exons and spans 11 kb of genomic DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9063747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Gong, W., Emanuel, B. S., Collins, J., Kim, D. H., Wang, Z., Chen, F., Zhang, G., Roe, B., Budarf, M. L. <strong>A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.</strong> Hum. Molec. Genet. 5: 789-800, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8776594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8776594</a>] [<a href="https://doi.org/10.1093/hmg/5.6.789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8776594">Gong et al. (1996)</a> identified the DGSI gene within the MDGCR on chromosome 22q11.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8776594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Rizzu, P., Lindsay, E. A., Taylor, C., O'Donnell, H., Levy, A., Scambler, P., Baldini, A. <strong>Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and velocardiofacial syndromes conserved in C. elegans.</strong> Mammalian Genome 7: 639-643, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8703114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8703114</a>] [<a href="https://doi.org/10.1007/s003359900197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8703114">Rizzu et al. (1996)</a> mapped the mouse Es2 gene to chromosome 16B1-B3. <a href="#3" class="mim-tip-reference" title="Gong, W., Emanuel, B. S., Galili, N., Kim, D. H., Roe, B., Driscoll, D. A., Budarf, M. L. <strong>Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.</strong> Hum. Molec. Genet. 6: 267-276, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063747</a>] [<a href="https://doi.org/10.1093/hmg/6.2.267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9063747">Gong et al. (1997)</a> noted that this region of mouse chromosome 16 shares conserved linkage to the human MDGCR. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8703114+9063747" 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 mutation analysis in 16 patients who had no detectable 22q11.2 deletion but some of the characteristic clinical features of DGS/VCFS, <a href="#3" class="mim-tip-reference" title="Gong, W., Emanuel, B. S., Galili, N., Kim, D. H., Roe, B., Driscoll, D. A., Budarf, M. L. <strong>Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.</strong> Hum. Molec. Genet. 6: 267-276, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063747</a>] [<a href="https://doi.org/10.1093/hmg/6.2.267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9063747">Gong et al. (1997)</a> identified 8 sequence variants in the DGSI gene. These occurred in the 5-prime untranslated region, the coding region, and the intronic regions adjacent to the intron-exon boundaries of the gene. Seven of the 8 variants were also present in normal control or unaffected family members, suggesting that they may not be of etiologic significance. <a href="#3" class="mim-tip-reference" title="Gong, W., Emanuel, B. S., Galili, N., Kim, D. H., Roe, B., Driscoll, D. A., Budarf, M. L. <strong>Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.</strong> Hum. Molec. Genet. 6: 267-276, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063747</a>] [<a href="https://doi.org/10.1093/hmg/6.2.267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9063747">Gong et al. (1997)</a> concluded, however, that DGSI remains a candidate gene for the DGS/VCFS syndrome and related abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9063747" 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 deleting a portion of mouse chromosome 16B that is homologous to human 22q11, <a href="#4" class="mim-tip-reference" title="Lindsay, E. A., Botta, A., Jurecic, V., Carattini-Rivera, S., Cheah, Y.-C., Rosenblatt, H. M., Bradley, A., Baldini, A. <strong>Congenital heart disease in mice deficient for the DiGeorge syndrome region.</strong> Nature 401: 379-383, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10517636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10517636</a>] [<a href="https://doi.org/10.1038/43900" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10517636">Lindsay et al. (1999)</a> created an animal model for DiGeorge syndrome. The region deleted extended from the Es2 gene to the Ufd1l gene (<a href="/entry/601754">601754</a>). The results indicated that the Es2 gene is essential for embryonic development in mice and that heterozygous deletion of this gene is not sufficient to generate cardiovascular abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10517636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Funato, H., Sato, M., Sinton, C. M., Gautron, L., Williams, S. C., Skach, A., Elmquist, J. K., Skoultchi, A. I., Yanagisawa, M. <strong>Loss of Goosecoid-like and DiGeorge syndrome critical region 14 in interpeduncular nucleus results in altered regulation of rapid eye movement sleep.</strong> Proc. Nat. Acad. Sci. 107: 18155-18160, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20921407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20921407</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20921407[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/10.1073/pnas.1012764107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20921407">Funato et al. (2010)</a> found that Gscl (<a href="/entry/601845">601845</a>) -/- mice lacked expression of Dgcr14, which is located 2 kb downstream of Gscl in the same transcriptional direction, specifically in the interpeduncular nucleus. These mice had apparently normal neural architecture, with normal distribution of neurotransmitter immunoreactivity and normal afferent and efferent connections to and from the interpeduncular nucleus. However, Gscl -/- mice showed abnormalities in rapid eye movement (REM) sleep, including reduced total time in REM sleep, fewer REM sleep episodes, reduced theta power during REM sleep, and increased arousability during REM sleep. <a href="#1" class="mim-tip-reference" title="Funato, H., Sato, M., Sinton, C. M., Gautron, L., Williams, S. C., Skach, A., Elmquist, J. K., Skoultchi, A. I., Yanagisawa, M. <strong>Loss of Goosecoid-like and DiGeorge syndrome critical region 14 in interpeduncular nucleus results in altered regulation of rapid eye movement sleep.</strong> Proc. Nat. Acad. Sci. 107: 18155-18160, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20921407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20921407</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20921407[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/10.1073/pnas.1012764107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20921407">Funato et al. (2010)</a> concluded that the absence of Gscl and Dgcr14 in the interpeduncular nucleus results in altered regulation of REM sleep. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20921407" 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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Proc. Nat. Acad. Sci. 107: 18155-18160, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20921407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20921407</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20921407[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=20921407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gong, W., Emanuel, B. S., Collins, J., Kim, D. H., Wang, Z., Chen, F., Zhang, G., Roe, B., Budarf, M. L.
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<strong>A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.</strong>
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Hum. Molec. Genet. 5: 789-800, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8776594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8776594</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8776594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/5.6.789" target="_blank">Full Text</a>]
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Gong, W., Emanuel, B. S., Galili, N., Kim, D. H., Roe, B., Driscoll, D. A., Budarf, M. L.
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<strong>Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.</strong>
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Hum. Molec. Genet. 6: 267-276, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063747</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9063747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/6.2.267" target="_blank">Full Text</a>]
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<a id="Lindsay1999" class="mim-anchor"></a>
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Lindsay, E. A., Botta, A., Jurecic, V., Carattini-Rivera, S., Cheah, Y.-C., Rosenblatt, H. M., Bradley, A., Baldini, A.
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<strong>Congenital heart disease in mice deficient for the DiGeorge syndrome region.</strong>
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Nature 401: 379-383, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10517636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10517636</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10517636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/43900" target="_blank">Full Text</a>]
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<a id="Lindsay1998" class="mim-anchor"></a>
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Lindsay, E. A., Harvey, E. L., Scambler, P. J., Baldini, A.
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<strong>ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene.</strong>
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Hum. Molec. Genet. 7: 629-635, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9499415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9499415</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9499415" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/7.4.629" target="_blank">Full Text</a>]
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Lindsay, E. A., Rizzu, P., Antonacci, R., Jurecic, V., Delmas-Mata, J., Lee, C.-C., Kim, U.-J., Scambler, P. J., Baldini, A.
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<strong>A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart.</strong>
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Genomics 32: 104-112, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1996.0082" target="_blank">Full Text</a>]
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Rizzu, P., Lindsay, E. A., Taylor, C., O'Donnell, H., Levy, A., Scambler, P., Baldini, A.
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<strong>Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and velocardiofacial syndromes conserved in C. elegans.</strong>
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Mammalian Genome 7: 639-643, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8703114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8703114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8703114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s003359900197" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 05/20/2013
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Paul J. Converse - updated : 5/2/2001
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<span class="mim-text-font">
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Victor A. McKusick : 4/15/1997
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carol : 06/26/2024
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<span class="mim-text-font">
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carol : 09/06/2017<br>mgross : 05/20/2013<br>alopez : 10/22/2004<br>mgross : 5/2/2001<br>mgross : 5/2/2001<br>dkim : 12/16/1998<br>dkim : 10/12/1998<br>alopez : 5/16/1997<br>alopez : 5/16/1997<br>mark : 4/18/1997<br>jenny : 4/15/1997
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<strong>*</strong> 601755
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ESS2 SPLICING FACTOR HOMOLOG; ESS2
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ESS2 SPLICING FACTOR, XENOPUS, HOMOLOG OF<br />
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DIGEORGE SYNDROME CRITICAL REGION GENE DGSI; DGSI<br />
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DIGEORGE SYNDROME CRITICAL REGION GENE 14; DGCR14<br />
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ES2
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<strong><em>HGNC Approved Gene Symbol: ESS2</em></strong>
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Cytogenetic location: 22q11.21
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Genomic coordinates <span class="small">(GRCh38)</span> : 22:19,130,279-19,144,651 </span>
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</em>
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<span class="small">(from NCBI)</span>
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<strong>Cloning and Expression</strong>
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<p>A group of developmental disorders, sometimes given the acronym of CATCH22 and including DiGeorge syndrome (DGS; 188400), velocardiofacial syndrome (VCFS; 192430), conotruncal anomaly face syndrome (CTAFS), and some familial or sporadic conotruncal cardiac defects (217095), has been associated with microdeletion of 22q11.2. Gong et al. (1997) noted that the proximal and distal boundaries of the smallest region of deletion overlap (SRDO, approximately 300 to 400 kb) had been defined based on breakpoint mapping data from patients with DGS/VCFS. This region was narrowed to 250 kb (minimal DGS critical region, or MDGCR) by analysis of an unbalanced 15;22 translocation in a VCFS patient. Genes that have been identified within the MDGCR include DGCR2 (600594), the citrate transport protein gene (190315), the clathrin heavy chain-like gene (601273), and DGCR5. Gong et al. (1996) identified several novel transcription units within the MDGCR, including a gene they designated DGSI. </p><p>By screening for expressed sequences in the SRDO, Lindsay et al. (1996) identified 6 distinct transcripts that were expressed in heart, including DGCR2, TUPLE1 (600237), and ES2, which is identical to DGSI. </p><p>By screening a human heart cDNA library and a mouse genomic library, Rizzu et al. (1996) obtained cDNAs encoding mouse and human ES2. Sequence analysis predicted that human ES2 is a 476-amino acid protein. Northern blot analysis detected a major 2-kb ES2 transcript in heart, brain, and skeletal muscle, with lower expression in placenta. </p><p>Gong et al. (1997) isolated cDNAs encoding human and mouse DGSI. Comparison of their predicted amino acid sequences indicated that DGSI is highly conserved. The predicted mouse protein contains 479 amino acids with 93.2% identity to the human DGSI gene. </p><p>Lindsay et al. (1998) determined that the 480-amino acid mouse Es2 protein is 93% identical to the human protein and contains a coiled-coil motif. They also identified 2 splice variants of Es2. Fluorescence microscopy demonstrated a nuclear localization. In situ hybridization analysis showed embryonic Es2 expression that was highest in the pons, with lower levels in brain, spinal cord, developing face, kidney cortex, and thymus. </p>
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<strong>Gene Structure</strong>
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<p>Gong et al. (1997) determined that the DGSI gene contains 9 exons and spans 11 kb of genomic DNA. </p>
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<strong>Mapping</strong>
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<p>Gong et al. (1996) identified the DGSI gene within the MDGCR on chromosome 22q11.2. </p><p>Rizzu et al. (1996) mapped the mouse Es2 gene to chromosome 16B1-B3. Gong et al. (1997) noted that this region of mouse chromosome 16 shares conserved linkage to the human MDGCR. </p>
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<strong>Molecular Genetics</strong>
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<p>By mutation analysis in 16 patients who had no detectable 22q11.2 deletion but some of the characteristic clinical features of DGS/VCFS, Gong et al. (1997) identified 8 sequence variants in the DGSI gene. These occurred in the 5-prime untranslated region, the coding region, and the intronic regions adjacent to the intron-exon boundaries of the gene. Seven of the 8 variants were also present in normal control or unaffected family members, suggesting that they may not be of etiologic significance. Gong et al. (1997) concluded, however, that DGSI remains a candidate gene for the DGS/VCFS syndrome and related abnormalities. </p>
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<p>By deleting a portion of mouse chromosome 16B that is homologous to human 22q11, Lindsay et al. (1999) created an animal model for DiGeorge syndrome. The region deleted extended from the Es2 gene to the Ufd1l gene (601754). The results indicated that the Es2 gene is essential for embryonic development in mice and that heterozygous deletion of this gene is not sufficient to generate cardiovascular abnormalities. </p><p>Funato et al. (2010) found that Gscl (601845) -/- mice lacked expression of Dgcr14, which is located 2 kb downstream of Gscl in the same transcriptional direction, specifically in the interpeduncular nucleus. These mice had apparently normal neural architecture, with normal distribution of neurotransmitter immunoreactivity and normal afferent and efferent connections to and from the interpeduncular nucleus. However, Gscl -/- mice showed abnormalities in rapid eye movement (REM) sleep, including reduced total time in REM sleep, fewer REM sleep episodes, reduced theta power during REM sleep, and increased arousability during REM sleep. Funato et al. (2010) concluded that the absence of Gscl and Dgcr14 in the interpeduncular nucleus results in altered regulation of REM sleep. </p>
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<strong>REFERENCES</strong>
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</span>
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Funato, H., Sato, M., Sinton, C. M., Gautron, L., Williams, S. C., Skach, A., Elmquist, J. K., Skoultchi, A. I., Yanagisawa, M.
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<strong>Loss of Goosecoid-like and DiGeorge syndrome critical region 14 in interpeduncular nucleus results in altered regulation of rapid eye movement sleep.</strong>
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Proc. Nat. Acad. Sci. 107: 18155-18160, 2010.
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[PubMed: 20921407]
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[Full Text: https://doi.org/10.1073/pnas.1012764107]
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Gong, W., Emanuel, B. S., Collins, J., Kim, D. H., Wang, Z., Chen, F., Zhang, G., Roe, B., Budarf, M. L.
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<strong>A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.</strong>
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Hum. Molec. Genet. 5: 789-800, 1996.
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[PubMed: 8776594]
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[Full Text: https://doi.org/10.1093/hmg/5.6.789]
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Gong, W., Emanuel, B. S., Galili, N., Kim, D. H., Roe, B., Driscoll, D. A., Budarf, M. L.
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<strong>Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.</strong>
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Hum. Molec. Genet. 6: 267-276, 1997.
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[PubMed: 9063747]
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[Full Text: https://doi.org/10.1093/hmg/6.2.267]
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Lindsay, E. A., Botta, A., Jurecic, V., Carattini-Rivera, S., Cheah, Y.-C., Rosenblatt, H. M., Bradley, A., Baldini, A.
|
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<strong>Congenital heart disease in mice deficient for the DiGeorge syndrome region.</strong>
|
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Nature 401: 379-383, 1999.
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[PubMed: 10517636]
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[Full Text: https://doi.org/10.1038/43900]
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</p>
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</li>
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Lindsay, E. A., Harvey, E. L., Scambler, P. J., Baldini, A.
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<strong>ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene.</strong>
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Hum. Molec. Genet. 7: 629-635, 1998.
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[PubMed: 9499415]
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[Full Text: https://doi.org/10.1093/hmg/7.4.629]
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Lindsay, E. A., Rizzu, P., Antonacci, R., Jurecic, V., Delmas-Mata, J., Lee, C.-C., Kim, U.-J., Scambler, P. J., Baldini, A.
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<strong>A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart.</strong>
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Genomics 32: 104-112, 1996.
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[PubMed: 8786095]
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[Full Text: https://doi.org/10.1006/geno.1996.0082]
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<p class="mim-text-font">
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Rizzu, P., Lindsay, E. A., Taylor, C., O'Donnell, H., Levy, A., Scambler, P., Baldini, A.
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<strong>Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and velocardiofacial syndromes conserved in C. elegans.</strong>
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Mammalian Genome 7: 639-643, 1996.
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[PubMed: 8703114]
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[Full Text: https://doi.org/10.1007/s003359900197]
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Patricia A. Hartz - updated : 05/20/2013<br>Paul J. Converse - updated : 5/2/2001
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Victor A. McKusick : 4/15/1997
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