3278 lines
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Entry
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- *609539 - AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 2; ARID2
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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">*609539</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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="#description">Description</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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<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="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/609539">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 role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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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 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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<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 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=ENSG00000189079;t=ENST00000334344" 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=196528" 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=609539" 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 class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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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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<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=ENSG00000189079;t=ENST00000334344" 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_001347839,NM_152641,XM_047428489" 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_152641" 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=609539" 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=16505&isoform_id=16505_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/ARID2" 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/10047179,14042417,14042607,17391455,22761438,30722343,31873885,34534975,51491251,56549668,59807540,71051948,73334458,73921721,119578292,119578293,119578294,119578295,1114629620,1115538452,2217287981,2462530587" 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/Q68CP9" 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=196528" 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=ENSG00000189079;t=ENST00000334344" 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=ARID2" 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=ARID2" 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+196528" 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/ARID2" 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:196528" 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/196528" 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=chr12&hgg_gene=ENST00000334344.11&hgg_start=45729706&hgg_end=45908037&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://search.clinicalgenome.org/kb/gene-dosage/HGNC:18037" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:18037" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609539[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=609539[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/ARID2/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/ENSG00000189079" 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=ARID2" 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=ARID2" 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=ARID2" 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=ARID2&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/PA134916396" 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:18037" 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/FBgn0042085.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:1924294" 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/ARID2#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:1924294" 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/196528/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=196528" 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=WBGene00007433;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-030131-6311" 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:196528" 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=ARID2&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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609539
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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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AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 2; ARID2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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ARID-CONTAINING PROTEIN 2<br />
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BRG1-ASSOCIATED FACTOR, 200-KD; BAF200<br />
|
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KIAA1557
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ARID2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ARID2</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/12/305?start=-3&limit=10&highlight=305">12q12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:45729706-45908037&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'})">12:45,729,706-45,908,037</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/12/305?start=-3&limit=10&highlight=305">
|
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12q12
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Coffin-Siris syndrome 6
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/617808"> 617808 </a>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/609539" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/609539" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<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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<p>ARID2 is a subunit of the PBAF chromatin-remodeling complex (see BAF180; <a href="/entry/606083">606083</a>), which facilitates ligand-dependent transcriptional activation by nuclear receptors (<a href="#8" class="mim-tip-reference" title="Yan, Z., Cui, K., Murray, D. M., Ling, C., Xue, Y., Gerstein, A., Parsons, R., Zhao, K., Wang, W. <strong>PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes.</strong> Genes Dev. 19: 1662-1667, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15985610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15985610</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15985610[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/gad.1323805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15985610">Yan et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15985610" 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 sequencing clones obtained from a size-fractionated fetal brain cDNA library, <a href="#5" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 273-281, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10997877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10997877</a>] [<a href="https://doi.org/10.1093/dnares/7.4.271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10997877">Nagase et al. (2000)</a> cloned ARID2, which they designated KIAA1557. RT-PCR ELISA detected ARID2 expression in all tissues and specific brain regions examined, with highest expression in ovary and lowest expression in spinal cord. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10997877" 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="Mohrmann, L., Langenberg, K., Krijgsveld, J., Kal, A. J., Heck, A. J. R., Verrijzer, C. P. <strong>Differential targeting of two distinct SWI/SNF-related Drosophila chromatin-remodeling complexes.</strong> Molec. Cell. Biol. 24: 3077-3088, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15060132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15060132</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15060132[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.24.8.3077-3088.2004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15060132">Mohrmann et al. (2004)</a> identified ARID2 by searching for sequences similar to Drosophila Bap170. The human and Drosophila proteins contain an N-terminal ARID domain, followed by several LLxxLL motifs and C-terminal canonical and variant C2H2-type zinc finger motifs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15060132" 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="#8" class="mim-tip-reference" title="Yan, Z., Cui, K., Murray, D. M., Ling, C., Xue, Y., Gerstein, A., Parsons, R., Zhao, K., Wang, W. <strong>PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes.</strong> Genes Dev. 19: 1662-1667, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15985610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15985610</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15985610[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/gad.1323805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15985610">Yan et al. (2005)</a> purified ARID2, which they called BAF200, from PFAB complexes isolated from HeLa cell nuclear extracts. By mass spectrometry, database analysis, and PCR, they obtained full-length ARID2 cDNA. The deduced protein contains 1,835 amino acids. <a href="#8" class="mim-tip-reference" title="Yan, Z., Cui, K., Murray, D. M., Ling, C., Xue, Y., Gerstein, A., Parsons, R., Zhao, K., Wang, W. <strong>PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes.</strong> Genes Dev. 19: 1662-1667, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15985610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15985610</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15985610[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/gad.1323805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15985610">Yan et al. (2005)</a> noted that all domains are conserved between human ARID2 and Drosophila Bap170, including central proline- and glutamine-rich regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15985610" 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 Western blot analysis, <a href="#8" class="mim-tip-reference" title="Yan, Z., Cui, K., Murray, D. M., Ling, C., Xue, Y., Gerstein, A., Parsons, R., Zhao, K., Wang, W. <strong>PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes.</strong> Genes Dev. 19: 1662-1667, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15985610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15985610</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15985610[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/gad.1323805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15985610">Yan et al. (2005)</a> determined that ARID2 is an integral component of PBAF. ARID2 interacted directly with BAF180 in the absence of DNA. However, ARID2 was able to form a complex in cells lacking BAF180, and suppression of ARID2 by small interfering RNA in these cells reduced both basal and IFN-alpha (<a href="/entry/147660">147660</a>)-induced IFITM1 (<a href="/entry/604456">604456</a>) expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15985610" 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="#5" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 273-281, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10997877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10997877</a>] [<a href="https://doi.org/10.1093/dnares/7.4.271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10997877">Nagase et al. (2000)</a> stated that the ARID2 gene maps to chromosome 12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10997877" 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>Coffin-Siris Syndrome 6</em></strong></p><p>
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In 4 unrelated patients with Coffin-Siris syndrome (CSS6; <a href="/entry/617808">617808</a>), <a href="#6" class="mim-tip-reference" title="Shang, L., Cho, M. T., Retterer, K., Folk, L., Humberson, J., Rohena, L., Sidhu, A., Salignan, S., Iglesias, A., Vitazka, P., Juusola, J., O'Donnell-Luria, A. H., Shen, H., Chung, W. K. <strong>Mutations in ARID2 are associated with intellectual disabilities.</strong> Neurogenetics 16: 307-314, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26238514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26238514</a>] [<a href="https://doi.org/10.1007/s10048-015-0454-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26238514">Shang et al. (2015)</a> identified heterozygous frameshift or nonsense mutations in the ARID2 gene (<a href="#0001">609539.0001</a>-<a href="#0004">609539.0004</a>). The mutations were confirmed to be de novo in 3 of the families; in the fourth family, the parents were unavailable for testing. The mutations were identified by whole-exome sequencing of 970 patients with intellectual disability. None of the mutations were found in public variant databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26238514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated patients with CSS6, <a href="#2" class="mim-tip-reference" title="Bramswig, N. C., Caluseriu, O., Ludecke, H.-J., Bolduc, F. V., Noel, N. C. L., Wieland, T., Surowy, H. M., Christen, H.-J., Engels, H., Strom, T. M., Wieczorek, D. <strong>Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.</strong> Hum. Genet. 136: 297-305, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28124119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28124119</a>] [<a href="https://doi.org/10.1007/s00439-017-1757-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28124119">Bramswig et al. (2017)</a> identified de novo heterozygous frameshift mutations in the ARID2 gene (<a href="#0005">609539.0005</a>-<a href="#0006">609539.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28124119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-year 11-month-old girl with CSS6, <a href="#7" class="mim-tip-reference" title="Van Paemel, R., De Bruyne, P., van der Straaten, S., D'hondt, M., Frankel, U., Dheedene, A., Menten, B., Callewaert, B. <strong>Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.</strong> Am. J. Med. Genet. 173A: 3104-3108, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28884947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28884947</a>] [<a href="https://doi.org/10.1002/ajmg.a.38407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28884947">Van Paemel et al. (2017)</a> identified a de novo heterozygous deletion in the ARID2 gene (<a href="#0007">609539.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28884947" 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>Association with Cancer</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Li, M., Zhao, H., Zhang, X., Wood, L. D., Anders, R. A., Choti, M. A., Pawlik, T. M., Daniel, H. D., Kannangai, R., Offerhaus, G. J. A., Velculescu, V. E., Wang, L., Zhou, S., Vogelstein, B., Hruban, R. H., Papadopoulos, N., Cai. J., Torbenson, M. S., Kinzler, K. W. <strong>Inactivating mutations of the chromatin remodeling gene ARID2 in hepatocellular carcinoma.</strong> Nature Genet. 43: 828-829, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21822264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21822264</a>] [<a href="https://doi.org/10.1038/ng.903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21822264">Li et al. (2011)</a> performed exome sequencing of 10 hepatitis C virus (HCV)-associated hepatocellular carcinomas (HCCs; <a href="/entry/114550">114550</a>) and matched normal tissue from 10 patients and a subsequent evaluation of additional affected individuals, and discovered novel inactivating mutations of ARID2 in 4 major subtypes of HCC (HCV-associated HCC, hepatitis B virus (HBV)-associated HCC, alcohol-associated HCC, and HCC with no known etiology). Notably, 18.2% of individuals with HCV-associated HCC in the United States and Europe harbored ARID2 inactivating mutations, suggesting that ARID2 is a tumor suppressor gene that is relatively commonly mutated in this tumor subtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21822264" 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="Biankin, A. V., Waddell, N., Kassahn, K. S., Gingras, M.-C., Muthuswamy, L. B., Johns, A. L., Miller, D. K., Wilson, P. J., Patch, A.-M., Wu, J., Chang, D. K., Cowley, M. J., and 116 others. <strong>Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.</strong> Nature 491: 399-405, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23103869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23103869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23103869[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/nature11547" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23103869">Biankin et al. (2012)</a> performed exome sequencing and copy number analysis to define genomic aberrations in a prospectively accrued clinical cohort of 142 patients with early (stage I and II) sporadic pancreatic ductal adenocarcinoma. Detailed analysis of 99 informative tumors identified substantial heterogeneity with 2,016 nonsilent mutations and 1,628 copy number variations. <a href="#1" class="mim-tip-reference" title="Biankin, A. V., Waddell, N., Kassahn, K. S., Gingras, M.-C., Muthuswamy, L. B., Johns, A. L., Miller, D. K., Wilson, P. J., Patch, A.-M., Wu, J., Chang, D. K., Cowley, M. J., and 116 others. <strong>Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.</strong> Nature 491: 399-405, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23103869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23103869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23103869[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/nature11547" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23103869">Biankin et al. (2012)</a> defined 16 significantly mutated genes, reaffirming known mutations and uncovering novel mutated genes including additional genes involved in chromatin modification (EPC1, <a href="/entry/610999">610999</a> and ARID2), DNA damage repair (ATM; <a href="/entry/607585">607585</a>), and other mechanisms (ZIM2 (see <a href="/entry/601483">601483</a>); MAP2K4, <a href="/entry/601335">601335</a>; NALCN, <a href="/entry/611549">611549</a>; SLC16A4, <a href="/entry/603878">603878</a>; and MAGEA6, <a href="/entry/300176">300176</a>). Integrative analysis with in vitro functional data and animal models provided supportive evidence for potential roles for these genetic aberrations in carcinogenesis. Pathway-based analysis of recurrently mutated genes recapitulated clustering in core signaling pathways in pancreatic ductal adenocarcinoma, and identified new mutated genes in each pathway. <a href="#1" class="mim-tip-reference" title="Biankin, A. V., Waddell, N., Kassahn, K. S., Gingras, M.-C., Muthuswamy, L. B., Johns, A. L., Miller, D. K., Wilson, P. J., Patch, A.-M., Wu, J., Chang, D. K., Cowley, M. J., and 116 others. <strong>Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.</strong> Nature 491: 399-405, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23103869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23103869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23103869[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/nature11547" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23103869">Biankin et al. (2012)</a> also identified frequent and diverse somatic aberrations in genes described traditionally as embryonic regulators of axon guidance, particularly SLIT/ROBO (see <a href="/entry/603742">603742</a>) signaling, which was also evident in murine Sleeping Beauty transposon-mediated somatic mutagenesis models of pancreatic cancer, providing further supportive evidence for the potential involvement of axon guidance genes in pancreatic carcinogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23103869" 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 href="https://www.ncbi.nlm.nih.gov/clinvar?term=609539[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<p>In an 8-year-old female with Coffin-Siris syndrome-6 (<a href="/entry/617808">617808</a>), <a href="#6" class="mim-tip-reference" title="Shang, L., Cho, M. T., Retterer, K., Folk, L., Humberson, J., Rohena, L., Sidhu, A., Salignan, S., Iglesias, A., Vitazka, P., Juusola, J., O'Donnell-Luria, A. H., Shen, H., Chung, W. K. <strong>Mutations in ARID2 are associated with intellectual disabilities.</strong> Neurogenetics 16: 307-314, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26238514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26238514</a>] [<a href="https://doi.org/10.1007/s10048-015-0454-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26238514">Shang et al. (2015)</a> identified a heterozygous c.1028T-A transversion (c.1028T-A, ENST00000334344), resulting in a leu343-to-ter (L343X) substitution. The child's parents were unavailable for testing. The mutation was predicted to disrupt ARID2 proximal to the 2 highly conserved zinc finger motifs. No functional studies were performed, but the authors suggested haploinsufficiency as the pathogenic mechanism. The variant was not found in the ExAC, dbSNP, 1000 Genomes Project, or Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26238514" 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">rs796052241 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796052241;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=rs796052241" 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=rs796052241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 6-year-old male with Coffin-Siris syndrome-6 (CSS6; <a href="/entry/617808">617808</a>), <a href="#6" class="mim-tip-reference" title="Shang, L., Cho, M. T., Retterer, K., Folk, L., Humberson, J., Rohena, L., Sidhu, A., Salignan, S., Iglesias, A., Vitazka, P., Juusola, J., O'Donnell-Luria, A. H., Shen, H., Chung, W. K. <strong>Mutations in ARID2 are associated with intellectual disabilities.</strong> Neurogenetics 16: 307-314, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26238514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26238514</a>] [<a href="https://doi.org/10.1007/s10048-015-0454-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26238514">Shang et al. (2015)</a> identified a de novo heterozygous 1-bp deletion (c.4441delC, ENST00000334344) in the ARID2 gene, resulting in a frameshift and premature termination (His1481IlefsTer4). The mutation was predicted to disrupt ARID2 proximal to the 2 highly conserved zinc finger motifs. No functional studies were performed, but the authors suggested haploinsufficiency as the pathogenic mechanism. The variant was not found in the ExAC, dbSNP, 1000 Genomes Project, or Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26238514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In an 8-year-old girl with Coffin-Siris syndrome-6 (CSS6; <a href="/entry/617808">617808</a>), <a href="#6" class="mim-tip-reference" title="Shang, L., Cho, M. T., Retterer, K., Folk, L., Humberson, J., Rohena, L., Sidhu, A., Salignan, S., Iglesias, A., Vitazka, P., Juusola, J., O'Donnell-Luria, A. H., Shen, H., Chung, W. K. <strong>Mutations in ARID2 are associated with intellectual disabilities.</strong> Neurogenetics 16: 307-314, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26238514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26238514</a>] [<a href="https://doi.org/10.1007/s10048-015-0454-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26238514">Shang et al. (2015)</a> identified a de novo heterozygous c.4318C-T transition in the ARID2 gene, resulting in a gln1440-to-ter (Q1440X) substitution. The mutation was predicted to disrupt ARID2 proximal to the 2 highly conserved zinc finger motifs. No functional studies were performed, but the authors suggested haploinsufficiency as the pathogenic mechanism. The variant was not found in the ExAC, dbSNP, 1000 Genomes Project, or Exome Variant Server databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26238514" 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">rs1555155252 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555155252;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=rs1555155252" 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=rs1555155252" 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=RCV000520055" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000520055" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000520055</a>
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<p>In a 7-year-old boy with Coffin-Siris syndrome-6 (CSS6; <a href="/entry/617808">617808</a>), <a href="#2" class="mim-tip-reference" title="Bramswig, N. C., Caluseriu, O., Ludecke, H.-J., Bolduc, F. V., Noel, N. C. L., Wieland, T., Surowy, H. M., Christen, H.-J., Engels, H., Strom, T. M., Wieczorek, D. <strong>Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.</strong> Hum. Genet. 136: 297-305, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28124119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28124119</a>] [<a href="https://doi.org/10.1007/s00439-017-1757-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28124119">Bramswig et al. (2017)</a> identified a de novo heterozygous 2-bp deletion (c.3411_3412delAG, NM_152641.2) in the ARID2 gene, resulting in a frameshift and premature termination (Gly1139SerfsTer20). The variant was not found in the ExAC database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28124119" 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>.0006 COFFIN-SIRIS SYNDROME 6</strong>
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ARID2, 1-BP DEL, 156C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555139310 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555139310;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=rs1555139310" 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=rs1555139310" 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=RCV000521920" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000521920" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000521920</a>
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<p>In a 4.5-year-old boy with Coffin-Siris syndrome-6 (CSS6; <a href="/entry/617808">617808</a>), <a href="#2" class="mim-tip-reference" title="Bramswig, N. C., Caluseriu, O., Ludecke, H.-J., Bolduc, F. V., Noel, N. C. L., Wieland, T., Surowy, H. M., Christen, H.-J., Engels, H., Strom, T. M., Wieczorek, D. <strong>Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.</strong> Hum. Genet. 136: 297-305, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28124119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28124119</a>] [<a href="https://doi.org/10.1007/s00439-017-1757-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28124119">Bramswig et al. (2017)</a> identified a de novo heterozygous 1-bp deletion (c.156delC, NM_152641.2) in the ARID2 gene, resulting in a frameshift and premature termination (Arg53GlufsTer5). The variant was not found in the ExAC database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28124119" 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>.0007 COFFIN-SIRIS SYNDROME 6</strong>
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ARID2, 105-KB DEL, EX3-5DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000523718" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000523718" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000523718</a>
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<p>In a female, aged 3 years, 11 months, with Coffin-Siris syndrome-6 (CSS6; <a href="/entry/617808">617808</a>), <a href="#7" class="mim-tip-reference" title="Van Paemel, R., De Bruyne, P., van der Straaten, S., D'hondt, M., Frankel, U., Dheedene, A., Menten, B., Callewaert, B. <strong>Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.</strong> Am. J. Med. Genet. 173A: 3104-3108, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28884947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28884947</a>] [<a href="https://doi.org/10.1002/ajmg.a.38407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28884947">Van Paemel et al. (2017)</a> identified a de novo heterozygous 105-kb deletion (12q12(46125066-46230365)x1, GRCh37) encompassing exons 3-5 of the ARID2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28884947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Biankin2012" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1038/nature11547" target="_blank">Full Text</a>]
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Bramswig, N. C., Caluseriu, O., Ludecke, H.-J., Bolduc, F. V., Noel, N. C. L., Wieland, T., Surowy, H. M., Christen, H.-J., Engels, H., Strom, T. M., Wieczorek, D.
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<strong>Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.</strong>
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Hum. Genet. 136: 297-305, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28124119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28124119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28124119" 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/s00439-017-1757-z" target="_blank">Full Text</a>]
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Li, M., Zhao, H., Zhang, X., Wood, L. D., Anders, R. A., Choti, M. A., Pawlik, T. M., Daniel, H. D., Kannangai, R., Offerhaus, G. J. A., Velculescu, V. E., Wang, L., Zhou, S., Vogelstein, B., Hruban, R. H., Papadopoulos, N., Cai. J., Torbenson, M. S., Kinzler, K. W.
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<strong>Inactivating mutations of the chromatin remodeling gene ARID2 in hepatocellular carcinoma.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21822264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21822264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21822264" 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/ng.903" target="_blank">Full Text</a>]
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Mohrmann, L., Langenberg, K., Krijgsveld, J., Kal, A. J., Heck, A. J. R., Verrijzer, C. P.
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<strong>Differential targeting of two distinct SWI/SNF-related Drosophila chromatin-remodeling complexes.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15060132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15060132</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15060132[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=15060132" 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/10.1128/MCB.24.8.3077-3088.2004" target="_blank">Full Text</a>]
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Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O.
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[<a href="https://doi.org/10.1093/dnares/7.4.271" target="_blank">Full Text</a>]
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Shang, L., Cho, M. T., Retterer, K., Folk, L., Humberson, J., Rohena, L., Sidhu, A., Salignan, S., Iglesias, A., Vitazka, P., Juusola, J., O'Donnell-Luria, A. H., Shen, H., Chung, W. K.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26238514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26238514</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26238514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Van Paemel, R., De Bruyne, P., van der Straaten, S., D'hondt, M., Frankel, U., Dheedene, A., Menten, B., Callewaert, B.
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<strong>Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.</strong>
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Am. J. Med. Genet. 173A: 3104-3108, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28884947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28884947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28884947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15985610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15985610</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15985610[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=15985610" 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/10.1101/gad.1323805" target="_blank">Full Text</a>]
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</p>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 12/13/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 12/18/2012<br>Ada Hamosh - updated : 10/7/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 8/22/2005
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/14/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/13/2017<br>carol : 12/13/2017<br>alopez : 12/18/2012<br>mgross : 3/27/2012<br>alopez : 10/13/2011<br>terry : 10/7/2011<br>mgross : 8/22/2005
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 609539
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 2; ARID2
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ARID-CONTAINING PROTEIN 2<br />
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BRG1-ASSOCIATED FACTOR, 200-KD; BAF200<br />
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KIAA1557
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</span>
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</h4>
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</div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ARID2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 12q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:45,729,706-45,908,037 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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12q12
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</td>
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<td>
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<span class="mim-font">
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Coffin-Siris syndrome 6
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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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617808
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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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Autosomal dominant
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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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3
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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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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</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>ARID2 is a subunit of the PBAF chromatin-remodeling complex (see BAF180; 606083), which facilitates ligand-dependent transcriptional activation by nuclear receptors (Yan et al., 2005). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2000) cloned ARID2, which they designated KIAA1557. RT-PCR ELISA detected ARID2 expression in all tissues and specific brain regions examined, with highest expression in ovary and lowest expression in spinal cord. </p><p>Mohrmann et al. (2004) identified ARID2 by searching for sequences similar to Drosophila Bap170. The human and Drosophila proteins contain an N-terminal ARID domain, followed by several LLxxLL motifs and C-terminal canonical and variant C2H2-type zinc finger motifs. </p><p>Yan et al. (2005) purified ARID2, which they called BAF200, from PFAB complexes isolated from HeLa cell nuclear extracts. By mass spectrometry, database analysis, and PCR, they obtained full-length ARID2 cDNA. The deduced protein contains 1,835 amino acids. Yan et al. (2005) noted that all domains are conserved between human ARID2 and Drosophila Bap170, including central proline- and glutamine-rich regions. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By Western blot analysis, Yan et al. (2005) determined that ARID2 is an integral component of PBAF. ARID2 interacted directly with BAF180 in the absence of DNA. However, ARID2 was able to form a complex in cells lacking BAF180, and suppression of ARID2 by small interfering RNA in these cells reduced both basal and IFN-alpha (147660)-induced IFITM1 (604456) expression. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Nagase et al. (2000) stated that the ARID2 gene maps to chromosome 12. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p><strong><em>Coffin-Siris Syndrome 6</em></strong></p><p>
|
|
In 4 unrelated patients with Coffin-Siris syndrome (CSS6; 617808), Shang et al. (2015) identified heterozygous frameshift or nonsense mutations in the ARID2 gene (609539.0001-609539.0004). The mutations were confirmed to be de novo in 3 of the families; in the fourth family, the parents were unavailable for testing. The mutations were identified by whole-exome sequencing of 970 patients with intellectual disability. None of the mutations were found in public variant databases. </p><p>In 2 unrelated patients with CSS6, Bramswig et al. (2017) identified de novo heterozygous frameshift mutations in the ARID2 gene (609539.0005-609539.0006). </p><p>In a 3-year 11-month-old girl with CSS6, Van Paemel et al. (2017) identified a de novo heterozygous deletion in the ARID2 gene (609539.0007). </p><p><strong><em>Association with Cancer</em></strong></p><p>
|
|
Li et al. (2011) performed exome sequencing of 10 hepatitis C virus (HCV)-associated hepatocellular carcinomas (HCCs; 114550) and matched normal tissue from 10 patients and a subsequent evaluation of additional affected individuals, and discovered novel inactivating mutations of ARID2 in 4 major subtypes of HCC (HCV-associated HCC, hepatitis B virus (HBV)-associated HCC, alcohol-associated HCC, and HCC with no known etiology). Notably, 18.2% of individuals with HCV-associated HCC in the United States and Europe harbored ARID2 inactivating mutations, suggesting that ARID2 is a tumor suppressor gene that is relatively commonly mutated in this tumor subtype. </p><p>Biankin et al. (2012) performed exome sequencing and copy number analysis to define genomic aberrations in a prospectively accrued clinical cohort of 142 patients with early (stage I and II) sporadic pancreatic ductal adenocarcinoma. Detailed analysis of 99 informative tumors identified substantial heterogeneity with 2,016 nonsilent mutations and 1,628 copy number variations. Biankin et al. (2012) defined 16 significantly mutated genes, reaffirming known mutations and uncovering novel mutated genes including additional genes involved in chromatin modification (EPC1, 610999 and ARID2), DNA damage repair (ATM; 607585), and other mechanisms (ZIM2 (see 601483); MAP2K4, 601335; NALCN, 611549; SLC16A4, 603878; and MAGEA6, 300176). Integrative analysis with in vitro functional data and animal models provided supportive evidence for potential roles for these genetic aberrations in carcinogenesis. Pathway-based analysis of recurrently mutated genes recapitulated clustering in core signaling pathways in pancreatic ductal adenocarcinoma, and identified new mutated genes in each pathway. Biankin et al. (2012) also identified frequent and diverse somatic aberrations in genes described traditionally as embryonic regulators of axon guidance, particularly SLIT/ROBO (see 603742) signaling, which was also evident in murine Sleeping Beauty transposon-mediated somatic mutagenesis models of pancreatic cancer, providing further supportive evidence for the potential involvement of axon guidance genes in pancreatic carcinogenesis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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|
|
<div>
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|
|
|
<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 COFFIN-SIRIS SYNDROME 6</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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|
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ARID2, 1-BP DEL, 2536G
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|
|
<br />
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|
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SNP: rs796052240,
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|
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ClinVar: RCV000190118, RCV000523398
|
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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 15-year-old female with Coffin-Siris syndrome (CSS6; 617808), Shang et al. (2015) identified a de novo heterozygous 1-bp deletion (c.2536delG, ENST00000334344) in the ARID2 gene, resulting in a frameshift and a premature termination codon (Val846LeufsTer3). The mutation was predicted to disrupt ARID2 proximal to the 2 highly conserved zinc finger motifs. No functional studies were performed, but the authors suggested haploinsufficiency as the pathogenic mechanism. The variant was not found in the ExAC, dbSNP, 1000 Genomes Project, or Exome Variant Server databases. </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>.0002 COFFIN-SIRIS SYNDROME 6</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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ARID2, LEU343TER
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<br />
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SNP: rs796052242,
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ClinVar: RCV000519953
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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 an 8-year-old female with Coffin-Siris syndrome-6 (617808), Shang et al. (2015) identified a heterozygous c.1028T-A transversion (c.1028T-A, ENST00000334344), resulting in a leu343-to-ter (L343X) substitution. The child's parents were unavailable for testing. The mutation was predicted to disrupt ARID2 proximal to the 2 highly conserved zinc finger motifs. No functional studies were performed, but the authors suggested haploinsufficiency as the pathogenic mechanism. The variant was not found in the ExAC, dbSNP, 1000 Genomes Project, or Exome Variant Server databases. </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>
|
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<span class="mim-font">
|
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<strong>.0003 COFFIN-SIRIS SYNDROME 6</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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ARID2, 1-BP DEL, 4441C
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<br />
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SNP: rs796052241,
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ClinVar: RCV000521774
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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 6-year-old male with Coffin-Siris syndrome-6 (CSS6; 617808), Shang et al. (2015) identified a de novo heterozygous 1-bp deletion (c.4441delC, ENST00000334344) in the ARID2 gene, resulting in a frameshift and premature termination (His1481IlefsTer4). The mutation was predicted to disrupt ARID2 proximal to the 2 highly conserved zinc finger motifs. No functional studies were performed, but the authors suggested haploinsufficiency as the pathogenic mechanism. The variant was not found in the ExAC, dbSNP, 1000 Genomes Project, or Exome Variant Server databases. </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>.0004 COFFIN-SIRIS SYNDROME 6</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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ARID2, GLN1440TER
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<br />
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SNP: rs772995852,
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gnomAD: rs772995852,
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ClinVar: RCV000522877
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</span>
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<p>In an 8-year-old girl with Coffin-Siris syndrome-6 (CSS6; 617808), Shang et al. (2015) identified a de novo heterozygous c.4318C-T transition in the ARID2 gene, resulting in a gln1440-to-ter (Q1440X) substitution. The mutation was predicted to disrupt ARID2 proximal to the 2 highly conserved zinc finger motifs. No functional studies were performed, but the authors suggested haploinsufficiency as the pathogenic mechanism. The variant was not found in the ExAC, dbSNP, 1000 Genomes Project, or Exome Variant Server databases. </p>
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</span>
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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>.0005 COFFIN-SIRIS SYNDROME 6</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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ARID2, 2-BP DEL, 3411AG
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<br />
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SNP: rs1555155252,
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ClinVar: RCV000520055
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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 7-year-old boy with Coffin-Siris syndrome-6 (CSS6; 617808), Bramswig et al. (2017) identified a de novo heterozygous 2-bp deletion (c.3411_3412delAG, NM_152641.2) in the ARID2 gene, resulting in a frameshift and premature termination (Gly1139SerfsTer20). The variant was not found in the ExAC 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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<h4>
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<span class="mim-font">
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<strong>.0006 COFFIN-SIRIS SYNDROME 6</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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ARID2, 1-BP DEL, 156C
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<br />
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SNP: rs1555139310,
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ClinVar: RCV000521920
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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 4.5-year-old boy with Coffin-Siris syndrome-6 (CSS6; 617808), Bramswig et al. (2017) identified a de novo heterozygous 1-bp deletion (c.156delC, NM_152641.2) in the ARID2 gene, resulting in a frameshift and premature termination (Arg53GlufsTer5). The variant was not found in the ExAC 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>.0007 COFFIN-SIRIS SYNDROME 6</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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ARID2, 105-KB DEL, EX3-5DEL
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<br />
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ClinVar: RCV000523718
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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 female, aged 3 years, 11 months, with Coffin-Siris syndrome-6 (CSS6; 617808), Van Paemel et al. (2017) identified a de novo heterozygous 105-kb deletion (12q12(46125066-46230365)x1, GRCh37) encompassing exons 3-5 of the ARID2 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Biankin, A. V., Waddell, N., Kassahn, K. S., Gingras, M.-C., Muthuswamy, L. B., Johns, A. L., Miller, D. K., Wilson, P. J., Patch, A.-M., Wu, J., Chang, D. K., Cowley, M. J., and 116 others.
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<strong>Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.</strong>
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Nature 491: 399-405, 2012.
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[PubMed: 23103869]
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[Full Text: https://doi.org/10.1038/nature11547]
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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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Bramswig, N. C., Caluseriu, O., Ludecke, H.-J., Bolduc, F. V., Noel, N. C. L., Wieland, T., Surowy, H. M., Christen, H.-J., Engels, H., Strom, T. M., Wieczorek, D.
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|
<strong>Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.</strong>
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Hum. Genet. 136: 297-305, 2017.
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[PubMed: 28124119]
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[Full Text: https://doi.org/10.1007/s00439-017-1757-z]
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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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Li, M., Zhao, H., Zhang, X., Wood, L. D., Anders, R. A., Choti, M. A., Pawlik, T. M., Daniel, H. D., Kannangai, R., Offerhaus, G. J. A., Velculescu, V. E., Wang, L., Zhou, S., Vogelstein, B., Hruban, R. H., Papadopoulos, N., Cai. J., Torbenson, M. S., Kinzler, K. W.
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<strong>Inactivating mutations of the chromatin remodeling gene ARID2 in hepatocellular carcinoma.</strong>
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Nature Genet. 43: 828-829, 2011.
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[PubMed: 21822264]
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[Full Text: https://doi.org/10.1038/ng.903]
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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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Mohrmann, L., Langenberg, K., Krijgsveld, J., Kal, A. J., Heck, A. J. R., Verrijzer, C. P.
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<strong>Differential targeting of two distinct SWI/SNF-related Drosophila chromatin-remodeling complexes.</strong>
|
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Molec. Cell. Biol. 24: 3077-3088, 2004.
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[PubMed: 15060132]
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[Full Text: https://doi.org/10.1128/MCB.24.8.3077-3088.2004]
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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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Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
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DNA Res. 7: 273-281, 2000.
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[PubMed: 10997877]
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[Full Text: https://doi.org/10.1093/dnares/7.4.271]
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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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Shang, L., Cho, M. T., Retterer, K., Folk, L., Humberson, J., Rohena, L., Sidhu, A., Salignan, S., Iglesias, A., Vitazka, P., Juusola, J., O'Donnell-Luria, A. H., Shen, H., Chung, W. K.
|
|
<strong>Mutations in ARID2 are associated with intellectual disabilities.</strong>
|
|
Neurogenetics 16: 307-314, 2015.
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[PubMed: 26238514]
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[Full Text: https://doi.org/10.1007/s10048-015-0454-0]
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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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Van Paemel, R., De Bruyne, P., van der Straaten, S., D'hondt, M., Frankel, U., Dheedene, A., Menten, B., Callewaert, B.
|
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<strong>Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.</strong>
|
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Am. J. Med. Genet. 173A: 3104-3108, 2017.
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[PubMed: 28884947]
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[Full Text: https://doi.org/10.1002/ajmg.a.38407]
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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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Yan, Z., Cui, K., Murray, D. M., Ling, C., Xue, Y., Gerstein, A., Parsons, R., Zhao, K., Wang, W.
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<strong>PBAF chromatin-remodeling complex requires a novel specificity subunit, BAF200, to regulate expression of selective interferon-responsive genes.</strong>
|
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Genes Dev. 19: 1662-1667, 2005.
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[PubMed: 15985610]
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[Full Text: https://doi.org/10.1101/gad.1323805]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<span class="mim-text-font">
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Ada Hamosh - updated : 12/13/2017<br>Ada Hamosh - updated : 12/18/2012<br>Ada Hamosh - updated : 10/7/2011
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<span class="mim-text-font">
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Patricia A. Hartz : 8/22/2005
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carol : 12/14/2017<br>carol : 12/13/2017<br>carol : 12/13/2017<br>alopez : 12/18/2012<br>mgross : 3/27/2012<br>alopez : 10/13/2011<br>terry : 10/7/2011<br>mgross : 8/22/2005
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