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- *600811 - DNA DAMAGE-BINDING PROTEIN 2; DDB2
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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">*600811</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600811">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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000134574;t=ENST00000256996" 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=1643" 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=600811" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000134574;t=ENST00000256996" 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_000107,NM_001300734,NM_001399874,NM_001399875,NM_001399876,NM_001399878,NR_174610,NR_174611,XM_047426487" 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_000107" 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=600811" 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=02886&isoform_id=02886_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/DDB2" 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/1536966,4557515,12230033,12652689,27979316,30583117,45476303,45476305,45476307,45476309,119588358,119588359,119588360,119588361,119588362,119588363,119588364,119588365,189053819,663429592,2180230509,2180230550,2180230666,2180230698,2217281471,2462523351" 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/Q92466" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=1643" 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=ENSG00000134574;t=ENST00000256996" 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=DDB2" 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=DDB2" 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+1643" 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/DDB2" 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:1643" 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/1643" 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=chr11&hgg_gene=ENST00000256996.9&hgg_start=47214454&hgg_end=47239217&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:2718" 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:2718" 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=600811[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=600811[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000134574" 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=DDB2" 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=DDB2" 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=DDB2" 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=DDB2&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/PA27188" 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:2718" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1355314" 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/DDB2#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:1355314" 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/1643/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=1643" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050419-169" 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="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:600811" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:1643" 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=DDB2&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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600811
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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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DNA DAMAGE-BINDING PROTEIN 2; DDB2
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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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DDB, p48 SUBUNIT
|
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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=DDB2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DDB2</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/11/357?start=-3&limit=10&highlight=357">11p11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:47214454-47239217&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'})">11:47,214,454-47,239,217</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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
|
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">
|
|
<a href="/geneMap/11/357?start=-3&limit=10&highlight=357">
|
|
11p11.2
|
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</a>
|
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</span>
|
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</td>
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|
|
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<td>
|
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<span class="mim-font">
|
|
Xeroderma pigmentosum, group E, DDB-negative subtype
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/278740"> 278740 </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 recessive">AR</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>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600811" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600811" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<p>The p48 gene (DDB2) is required for expression of an ultraviolet radiation (UV)-damaged DNA-binding activity and is disrupted by mutations in the subset of xeroderma pigmentosum group E (XPE; <a href="/entry/278740">278740</a>) cells that lack this activity, DDB-negative XPE (<a href="#4" class="mim-tip-reference" title="Hwang, B. J., Ford, J. M., Hanawalt, P. C., Chu, G. <strong>Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genomic repair.</strong> Proc. Nat. Acad. Sci. 96: 424-428, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9892649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9892649</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9892649[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.2.424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9892649">Hwang et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9892649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Dualan, R., Brody, T., Keeney, S., Nichols, A. F., Admon, A., Linn, S. <strong>Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein.</strong> Genomics 29: 62-69, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530102</a>] [<a href="https://doi.org/10.1006/geno.1995.1215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530102">Dualan et al. (1995)</a> isolated full-length human cDNAs encoding the 2 polypeptides of DDB: p127 (DDB1; <a href="/entry/600045">600045</a>) and p48 (DDB2). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#2" class="mim-tip-reference" title="Dualan, R., Brody, T., Keeney, S., Nichols, A. F., Admon, A., Linn, S. <strong>Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein.</strong> Genomics 29: 62-69, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530102</a>] [<a href="https://doi.org/10.1006/geno.1995.1215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530102">Dualan et al. (1995)</a> assigned the DDB2 gene to chromosome 11p12-p11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Nichols, A. F., Ong, P., Linn, S. <strong>Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.</strong> J. Biol. Chem. 271: 24317-24320, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798680</a>] [<a href="https://doi.org/10.1074/jbc.271.40.24317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8798680">Nichols et al. (1996)</a> found that overexpression of p48 in insect cells greatly increased DDB activity in the cells, especially if p127 was jointly overexpressed. These results demonstrated that p48 is required for DNA-binding activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8798680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Hwang, B. J., Toering, S., Francke, U., Chu, G. <strong>p48 activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity.</strong> Molec. Cell. Biol. 18: 4391-4399, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9632823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9632823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9632823[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.18.7.4391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9632823">Hwang et al. (1998)</a> demonstrated that expression of human DDB2 activated DNA binding by DDB1 in several hamster and human cell lines. No such effects were observed following expression of DDB2 containing single amino acid substitutions from XPE cells that lacked binding activity. DDB2 formed a complex with DDB1 either bound to UV-damaged DNA or in free solution. Activation of DDB1 occurred by a 'hit-and-run' mechanism, since the presence of DDB2 was not required for subsequent binding of DDB1 to UV-damaged DNA. Hamster cells that failed to express Ddb2, which contains a WD motif with homology to proteins that reorganize chromatin, also failed to efficiently repair cyclobutane pyrimidine dimers in nontranscribed DNA. <a href="#5" class="mim-tip-reference" title="Hwang, B. J., Toering, S., Francke, U., Chu, G. <strong>p48 activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity.</strong> Molec. Cell. Biol. 18: 4391-4399, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9632823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9632823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9632823[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.18.7.4391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9632823">Hwang et al. (1998)</a> concluded that DDB2 plays a role in repairing lesions that would otherwise remain inaccessible in nontranscribed chromatin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9632823" 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 human cells, efficient global genomic repair of DNA damage induced by UV radiation requires the p53 tumor suppressor (<a href="/entry/191170">191170</a>). <a href="#4" class="mim-tip-reference" title="Hwang, B. J., Ford, J. M., Hanawalt, P. C., Chu, G. <strong>Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genomic repair.</strong> Proc. Nat. Acad. Sci. 96: 424-428, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9892649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9892649</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9892649[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.2.424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9892649">Hwang et al. (1999)</a> showed that p48 mRNA levels strongly depend on basal p53 expression and increase further after DNA damage in a p53-dependent manner. Furthermore, like p53 -/- cells, XPE cells are deficient in global genomic repair. These results identified p48 as a link between p53 and the nucleotide excision repair apparatus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9892649" 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="#10" class="mim-tip-reference" title="Shiyanov, P., Nag, A., Raychaudhuri, P. <strong>Cullin 4A associates with the UV-damaged DNA-binding protein DDB.</strong> J. Biol. Chem. 274: 35309-35312, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10585395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10585395</a>] [<a href="https://doi.org/10.1074/jbc.274.50.35309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10585395">Shiyanov et al. (1999)</a> stated that the DDB complex has a transcriptional function in conjunction with E2F1 (<a href="/entry/189971">189971</a>), in addition to its role in the DNA damage response. By coimmunoprecipitation analysis of HeLa cell nuclear extracts, followed by mass spectrometric analysis and sequencing of novel tryptic peptides, they found that the DDB complex interacted with CUL4A (<a href="/entry/603137">603137</a>), a predicted E3 ubiquitin ligase. The DDB-CUL4A complex bound UV-damaged DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10585395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Tang, J. Y., Hwang, B. J., Ford, J. M., Hanawalt, P. C., Chu, G. <strong>Xeroderma pigmentosum p48 gene enhances global genomic repair and suppresses UV-induced mutagenesis.</strong> Molec. Cell 5: 737-744, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10882109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10882109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10882109[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80252-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10882109">Tang et al. (2000)</a> found that UV-damaged DNA-binding activity (UV-DDB) is deficient in cell lines and primary tissues from rodents. Transfection of p48 conferred UV-DDB to hamster cells and enhanced removal of cyclobutane pyrimidine dimers (CPDs) from genomic DNA and from the nontranscribed strand of an expressed gene. Expression of p48 suppressed UV-induced mutations arising from the nontranscribed strand but had no effect on cellular UV sensitivity. The results defined the role of p48 in DNA repair, demonstrated the importance of CPDs in mutagenesis, and suggested how rodent models can be improved to better reflect cancer susceptibility in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10882109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunoprecipitation analysis of HeLa cells, <a href="#3" class="mim-tip-reference" title="Groisman, R., Polanowska, J., Kuraoka, I., Sawada, J., Saijo, M., Drapkin, R., Kisselev, A. F., Tanaka, K., Nakatani, Y. <strong>The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage.</strong> Cell 113: 357-367, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12732143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12732143</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00316-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12732143">Groisman et al. (2003)</a> identified DDB2 and CSA (<a href="/entry/609412">609412</a>) as components of similar but distinct protein complexes. Both DDB2 and CSA interacted with DDB1 (<a href="/entry/600045">600045</a>), a component of both complexes. Cullin-4A (CUL4A; <a href="/entry/603137">603137</a>), ROC1 (RBX1; <a href="/entry/603814">603814</a>), and all the subunits of the COP9 signalosome (e.g., COPS2; <a href="/entry/604508">604508</a>) were also present in both complexes. Following UV irradiation, the DDB2 complex bound tightly to chromatin in a UV-dependent manner and initiated global genome repair, whereas the CSA complex bound to RNA polymerase II and initiated transcription-coupled repair. The COP9 signalosome in each complex differentially regulated cullin-based ubiquitin ligase activity in response to UV irradiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12732143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using HeLa and U2OS human cell lines, <a href="#1" class="mim-tip-reference" title="Balbo Pogliano, C., Gatti, M., Ruthemann, P., Garajova, Z., Penengo, L., Naegeli, H. <strong>ASH1L histone methyltransferase regulates the handoff between damage recognition factors in global-genome nucleotide excision repair.</strong> Nature Commun. 8: 1333, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29109511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29109511</a>] [<a href="https://doi.org/10.1038/s41467-017-01080-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29109511">Balbo Pogliano et al. (2017)</a> found that DDB2 recruited the histone methyltransferase ASH1L (<a href="/entry/607999">607999</a>) to CPD lesions in DNA caused by UV irradiation. In turn, ASH1L trimethylated histone H3 (see <a href="/entry/602810">602810</a>) lys4 (H3K4me3), which promoted stable docking of XPC (<a href="/entry/613208">613208</a>) at nucleosomes near CPD sites and initiation of NER activity. Coimmunoprecipitation analysis showed that DDB2 and ASH1L interacted directly, and knockdown of either protein via short interfering RNA abrogated UV-dependent increase in H3K4me3, caused dysregulated XPC recruitment in NER complexes at nucleosomes, and delayed CPD excision and DNA repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29109511" 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="#8" class="mim-tip-reference" title="Nichols, A. F. <strong>Personal Communication.</strong> Berkeley, Calif. 10/4/1995."None>Nichols (1995)</a> reported that RT-PCR mutation analysis in 5 fibroblast XPE strains (2 without and 3 with DDB-binding activity) covering 90 to 99% of the sequence of DDB1 revealed no mutations. Approximately 40% of DDB2 had been sequenced and had revealed no mutations in 2 fibroblast XPF strains (<a href="/entry/278760">278760</a>).</p><p><a href="#7" class="mim-tip-reference" title="Nichols, A. F., Ong, P., Linn, S. <strong>Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.</strong> J. Biol. Chem. 271: 24317-24320, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798680</a>] [<a href="https://doi.org/10.1074/jbc.271.40.24317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8798680">Nichols et al. (1996)</a> identified mutations in the DDB2 gene in the 3 known cases of DDB-negative XPE. No mutations were found in the cDNA of the 127-kD subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8798680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Rapic-Otrin, V., Navazza, V., Nardo, T., Botta, E., McLenigan, M., Bisi, D. C., Levine, A. S., Stefanini, M. <strong>True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.</strong> Hum. Molec. Genet. 12: 1507-1522, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12812979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12812979</a>] [<a href="https://doi.org/10.1093/hmg/ddg174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12812979">Rapic-Otrin et al. (2003)</a> described several genetically unrelated patients with XPE, each carrying 2 mutated alleles for DDB2, causing either a single amino acid change (see <a href="#0004">600811.0004</a>), a protein truncation, or internal deletion. These defects resulted in a severe decrease of detectable p48 protein, abolished interaction with the p127 subunit, and produced a deficiency in UV-DDB binding activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12812979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>4 Selected Examples</a>):</strong>
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<a href="/allelicVariants/600811" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600811[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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<strong>.0001 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434639 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434639;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=rs121434639" 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=rs121434639" 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=RCV000009332" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009332" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009332</a>
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<p>In 1 of the 3 known cases of DDB-negative xeroderma pigmentosum, complementation group E (<a href="/entry/278740">278740</a>), <a href="#7" class="mim-tip-reference" title="Nichols, A. F., Ong, P., Linn, S. <strong>Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.</strong> J. Biol. Chem. 271: 24317-24320, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798680</a>] [<a href="https://doi.org/10.1074/jbc.271.40.24317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8798680">Nichols et al. (1996)</a> found an A-to-G transition causing a lys244-to-glu (K244E) amino acid change in the 48-kD subunit of the DDB heterodimer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8798680" 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="#10" class="mim-tip-reference" title="Shiyanov, P., Nag, A., Raychaudhuri, P. <strong>Cullin 4A associates with the UV-damaged DNA-binding protein DDB.</strong> J. Biol. Chem. 274: 35309-35312, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10585395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10585395</a>] [<a href="https://doi.org/10.1074/jbc.274.50.35309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10585395">Shiyanov et al. (1999)</a> stated that the K244E mutation in DDB2 interferes with the DDB1 (<a href="/entry/600045">600045</a>)-DDB2 interaction in damaged DNA binding assays and also affects transcriptional activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10585395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121434640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434640;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121434640?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121434640" 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=rs121434640" 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=RCV000009333 OR RCV003555986" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009333, RCV003555986" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009333...</a>
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<p>In 2 of the 3 known cases of DDB-negative xeroderma pigmentosum, complementation group E (<a href="/entry/278740">278740</a>), <a href="#7" class="mim-tip-reference" title="Nichols, A. F., Ong, P., Linn, S. <strong>Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.</strong> J. Biol. Chem. 271: 24317-24320, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798680</a>] [<a href="https://doi.org/10.1074/jbc.271.40.24317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8798680">Nichols et al. (1996)</a> found a G-to-A transition that caused an arg273-to-his (R273H) amino acid change in the 48-kD subunit of the DDB protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8798680" 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="#10" class="mim-tip-reference" title="Shiyanov, P., Nag, A., Raychaudhuri, P. <strong>Cullin 4A associates with the UV-damaged DNA-binding protein DDB.</strong> J. Biol. Chem. 274: 35309-35312, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10585395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10585395</a>] [<a href="https://doi.org/10.1074/jbc.274.50.35309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10585395">Shiyanov et al. (1999)</a> stated that the R273H and lys244-to-glu (K244E; <a href="#0001">600811.0001</a>) mutations in DDB2 interfere with the DDB1 (<a href="/entry/600045">600045</a>)-DDB2 interaction in damaged DNA binding assays and also affect transcriptional activity. They showed that the R273H mutation, but not the K244E mutation, also abrogated interaction of the DDB complex with CUL4A (<a href="/entry/603137">603137</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10585395" 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>.0003 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434641 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434641;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=rs121434641" 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=rs121434641" 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=RCV000009334" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009334" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009334</a>
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<p><a href="#6" class="mim-tip-reference" title="Itoh, T., Mori, T., Ohkubo, H., Yamaizumi, M. <strong>A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts.</strong> J. Invest. Derm. 113: 251-257, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10469312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10469312</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00652.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10469312">Itoh et al. (1999)</a> studied a 62-year-old Japanese woman who was first recognized to be photosensitive at the age of about 20 (see XPE; <a href="/entry/278740">278740</a>). There were no complications during pregnancy, labor, or delivery. The parents were consanguineous. She showed average development. At the time of study, she had clinical sensitivity to UV light including pigmented or depigmented macules and patches on the face, neck, chest, and limbs, especially the dorsa of the hands. The sun-exposed skin showed slight dryness. Furthermore, she had multiple skin neoplasms (5 malignant melanomas and 14 basal cell carcinomas on the face, and 2 squamous cell carcinomas in situ on her forearm and leg). No mutation of DDB1 (<a href="/entry/600045">600045</a>) was detected; the DDB2 cDNA showed homozygosity for a C-to-T transition at nucleotide 937 in exon 7 of genomic DNA, generating a nonsense mutation in CGA (arg) to TGA (stop) at codon 313. This would be expected to produce a protein truncated by 115 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10469312" 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>.0004 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434642 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434642;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=rs121434642" 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=rs121434642" 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=RCV000009335" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009335" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009335</a>
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<p>In an Italian woman with DDB-negative xeroderma pigmentosum, complementation group E (<a href="/entry/278740">278740</a>), <a href="#9" class="mim-tip-reference" title="Rapic-Otrin, V., Navazza, V., Nardo, T., Botta, E., McLenigan, M., Bisi, D. C., Levine, A. S., Stefanini, M. <strong>True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.</strong> Hum. Molec. Genet. 12: 1507-1522, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12812979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12812979</a>] [<a href="https://doi.org/10.1093/hmg/ddg174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12812979">Rapic-Otrin et al. (2003)</a> identified homozygosity for a 1094G-T transversion in the DDB2 gene, resulting in an asp307-to-tyr (D307Y) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12812979" 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://doi.org/10.1038/s41467-017-01080-8" target="_blank">Full Text</a>]
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Dualan, R., Brody, T., Keeney, S., Nichols, A. F., Admon, A., Linn, S.
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[<a href="https://doi.org/10.1006/geno.1995.1215" target="_blank">Full Text</a>]
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Groisman, R., Polanowska, J., Kuraoka, I., Sawada, J., Saijo, M., Drapkin, R., Kisselev, A. F., Tanaka, K., Nakatani, Y.
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<strong>The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage.</strong>
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Cell 113: 357-367, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12732143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12732143</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12732143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(03)00316-7" target="_blank">Full Text</a>]
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Hwang, B. J., Ford, J. M., Hanawalt, P. C., Chu, G.
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<strong>Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genomic repair.</strong>
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Proc. Nat. Acad. Sci. 96: 424-428, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9892649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9892649</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9892649[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=9892649" 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/10.1073/pnas.96.2.424" target="_blank">Full Text</a>]
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Hwang, B. J., Toering, S., Francke, U., Chu, G.
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<strong>p48 activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity.</strong>
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Molec. Cell. Biol. 18: 4391-4399, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9632823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9632823</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9632823[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=9632823" 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.18.7.4391" target="_blank">Full Text</a>]
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Itoh, T., Mori, T., Ohkubo, H., Yamaizumi, M.
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<strong>A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts.</strong>
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J. Invest. Derm. 113: 251-257, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10469312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10469312</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10469312" 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/10.1046/j.1523-1747.1999.00652.x" target="_blank">Full Text</a>]
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Nichols, A. F., Ong, P., Linn, S.
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<strong>Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.</strong>
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J. Biol. Chem. 271: 24317-24320, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8798680" 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/10.1074/jbc.271.40.24317" target="_blank">Full Text</a>]
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Nichols, A. F.
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<strong>Personal Communication.</strong>
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Berkeley, Calif. 10/4/1995.
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Rapic-Otrin, V., Navazza, V., Nardo, T., Botta, E., McLenigan, M., Bisi, D. C., Levine, A. S., Stefanini, M.
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<strong>True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.</strong>
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Hum. Molec. Genet. 12: 1507-1522, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12812979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12812979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12812979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg174" target="_blank">Full Text</a>]
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<strong>Cullin 4A associates with the UV-damaged DNA-binding protein DDB.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10585395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10585395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10585395" 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/10.1074/jbc.274.50.35309" target="_blank">Full Text</a>]
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Tang, J. Y., Hwang, B. J., Ford, J. M., Hanawalt, P. C., Chu, G.
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<strong>Xeroderma pigmentosum p48 gene enhances global genomic repair and suppresses UV-induced mutagenesis.</strong>
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Molec. Cell 5: 737-744, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10882109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10882109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10882109[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=10882109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1097-2765(00)80252-x" target="_blank">Full Text</a>]
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Patricia A. Hartz - updated : 02/08/2018
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Patricia A. Hartz - updated : 3/14/2013<br>Patricia A. Hartz - updated : 7/6/2006<br>George E. Tiller - updated : 4/26/2005<br>Patricia A. Hartz - updated : 11/5/2004<br>Stylianos E. Antonarakis - updated : 6/20/2000<br>Victor A. McKusick - updated : 11/1/1999<br>Victor A. McKusick - updated : 2/18/1999
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Victor A. McKusick : 10/30/1995
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mgross : 02/08/2018<br>mcolton : 06/03/2015<br>mgross : 3/14/2013<br>terry : 3/14/2013<br>terry : 12/17/2007<br>mgross : 7/7/2006<br>terry : 7/6/2006<br>tkritzer : 4/26/2005<br>mgross : 11/9/2004<br>terry : 11/5/2004<br>mgross : 6/20/2000<br>carol : 11/10/1999<br>terry : 11/1/1999<br>carol : 3/4/1999<br>mgross : 2/26/1999<br>mgross : 2/24/1999<br>terry : 2/18/1999<br>psherman : 5/8/1998<br>terry : 12/10/1996<br>terry : 11/13/1996<br>mark : 10/30/1995
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DNA DAMAGE-BINDING PROTEIN 2; DDB2
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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DDB, p48 SUBUNIT
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DDB2</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: 11p11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:47,214,454-47,239,217 </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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11p11.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Xeroderma pigmentosum, group E, DDB-negative subtype
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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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278740
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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 recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
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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<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>The p48 gene (DDB2) is required for expression of an ultraviolet radiation (UV)-damaged DNA-binding activity and is disrupted by mutations in the subset of xeroderma pigmentosum group E (XPE; 278740) cells that lack this activity, DDB-negative XPE (Hwang et al., 1999). </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">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Dualan et al. (1995) isolated full-length human cDNAs encoding the 2 polypeptides of DDB: p127 (DDB1; 600045) and p48 (DDB2). </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">
|
|
<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">
|
|
<p>By fluorescence in situ hybridization, Dualan et al. (1995) assigned the DDB2 gene to chromosome 11p12-p11. </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">
|
|
<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">
|
|
<p>Nichols et al. (1996) found that overexpression of p48 in insect cells greatly increased DDB activity in the cells, especially if p127 was jointly overexpressed. These results demonstrated that p48 is required for DNA-binding activity. </p><p>Hwang et al. (1998) demonstrated that expression of human DDB2 activated DNA binding by DDB1 in several hamster and human cell lines. No such effects were observed following expression of DDB2 containing single amino acid substitutions from XPE cells that lacked binding activity. DDB2 formed a complex with DDB1 either bound to UV-damaged DNA or in free solution. Activation of DDB1 occurred by a 'hit-and-run' mechanism, since the presence of DDB2 was not required for subsequent binding of DDB1 to UV-damaged DNA. Hamster cells that failed to express Ddb2, which contains a WD motif with homology to proteins that reorganize chromatin, also failed to efficiently repair cyclobutane pyrimidine dimers in nontranscribed DNA. Hwang et al. (1998) concluded that DDB2 plays a role in repairing lesions that would otherwise remain inaccessible in nontranscribed chromatin. </p><p>In human cells, efficient global genomic repair of DNA damage induced by UV radiation requires the p53 tumor suppressor (191170). Hwang et al. (1999) showed that p48 mRNA levels strongly depend on basal p53 expression and increase further after DNA damage in a p53-dependent manner. Furthermore, like p53 -/- cells, XPE cells are deficient in global genomic repair. These results identified p48 as a link between p53 and the nucleotide excision repair apparatus. </p><p>Shiyanov et al. (1999) stated that the DDB complex has a transcriptional function in conjunction with E2F1 (189971), in addition to its role in the DNA damage response. By coimmunoprecipitation analysis of HeLa cell nuclear extracts, followed by mass spectrometric analysis and sequencing of novel tryptic peptides, they found that the DDB complex interacted with CUL4A (603137), a predicted E3 ubiquitin ligase. The DDB-CUL4A complex bound UV-damaged DNA. </p><p>Tang et al. (2000) found that UV-damaged DNA-binding activity (UV-DDB) is deficient in cell lines and primary tissues from rodents. Transfection of p48 conferred UV-DDB to hamster cells and enhanced removal of cyclobutane pyrimidine dimers (CPDs) from genomic DNA and from the nontranscribed strand of an expressed gene. Expression of p48 suppressed UV-induced mutations arising from the nontranscribed strand but had no effect on cellular UV sensitivity. The results defined the role of p48 in DNA repair, demonstrated the importance of CPDs in mutagenesis, and suggested how rodent models can be improved to better reflect cancer susceptibility in humans. </p><p>By immunoprecipitation analysis of HeLa cells, Groisman et al. (2003) identified DDB2 and CSA (609412) as components of similar but distinct protein complexes. Both DDB2 and CSA interacted with DDB1 (600045), a component of both complexes. Cullin-4A (CUL4A; 603137), ROC1 (RBX1; 603814), and all the subunits of the COP9 signalosome (e.g., COPS2; 604508) were also present in both complexes. Following UV irradiation, the DDB2 complex bound tightly to chromatin in a UV-dependent manner and initiated global genome repair, whereas the CSA complex bound to RNA polymerase II and initiated transcription-coupled repair. The COP9 signalosome in each complex differentially regulated cullin-based ubiquitin ligase activity in response to UV irradiation. </p><p>Using HeLa and U2OS human cell lines, Balbo Pogliano et al. (2017) found that DDB2 recruited the histone methyltransferase ASH1L (607999) to CPD lesions in DNA caused by UV irradiation. In turn, ASH1L trimethylated histone H3 (see 602810) lys4 (H3K4me3), which promoted stable docking of XPC (613208) at nucleosomes near CPD sites and initiation of NER activity. Coimmunoprecipitation analysis showed that DDB2 and ASH1L interacted directly, and knockdown of either protein via short interfering RNA abrogated UV-dependent increase in H3K4me3, caused dysregulated XPC recruitment in NER complexes at nucleosomes, and delayed CPD excision and DNA repair. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Nichols (1995) reported that RT-PCR mutation analysis in 5 fibroblast XPE strains (2 without and 3 with DDB-binding activity) covering 90 to 99% of the sequence of DDB1 revealed no mutations. Approximately 40% of DDB2 had been sequenced and had revealed no mutations in 2 fibroblast XPF strains (278760).</p><p>Nichols et al. (1996) identified mutations in the DDB2 gene in the 3 known cases of DDB-negative XPE. No mutations were found in the cDNA of the 127-kD subunit. </p><p>Rapic-Otrin et al. (2003) described several genetically unrelated patients with XPE, each carrying 2 mutated alleles for DDB2, causing either a single amino acid change (see 600811.0004), a protein truncation, or internal deletion. These defects resulted in a severe decrease of detectable p48 protein, abolished interaction with the p127 subunit, and produced a deficiency in UV-DDB binding activity. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DDB2, LYS244GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434639,
|
|
|
|
|
|
|
|
ClinVar: RCV000009332
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 1 of the 3 known cases of DDB-negative xeroderma pigmentosum, complementation group E (278740), Nichols et al. (1996) found an A-to-G transition causing a lys244-to-glu (K244E) amino acid change in the 48-kD subunit of the DDB heterodimer. </p><p>Shiyanov et al. (1999) stated that the K244E mutation in DDB2 interferes with the DDB1 (600045)-DDB2 interaction in damaged DNA binding assays and also affects transcriptional activity. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DDB2, ARG273HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434640,
|
|
|
|
|
|
gnomAD: rs121434640,
|
|
|
|
|
|
ClinVar: RCV000009333, RCV003555986
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 of the 3 known cases of DDB-negative xeroderma pigmentosum, complementation group E (278740), Nichols et al. (1996) found a G-to-A transition that caused an arg273-to-his (R273H) amino acid change in the 48-kD subunit of the DDB protein. </p><p>Shiyanov et al. (1999) stated that the R273H and lys244-to-glu (K244E; 600811.0001) mutations in DDB2 interfere with the DDB1 (600045)-DDB2 interaction in damaged DNA binding assays and also affect transcriptional activity. They showed that the R273H mutation, but not the K244E mutation, also abrogated interaction of the DDB complex with CUL4A (603137). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DDB2, ARG313TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434641,
|
|
|
|
|
|
|
|
ClinVar: RCV000009334
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Itoh et al. (1999) studied a 62-year-old Japanese woman who was first recognized to be photosensitive at the age of about 20 (see XPE; 278740). There were no complications during pregnancy, labor, or delivery. The parents were consanguineous. She showed average development. At the time of study, she had clinical sensitivity to UV light including pigmented or depigmented macules and patches on the face, neck, chest, and limbs, especially the dorsa of the hands. The sun-exposed skin showed slight dryness. Furthermore, she had multiple skin neoplasms (5 malignant melanomas and 14 basal cell carcinomas on the face, and 2 squamous cell carcinomas in situ on her forearm and leg). No mutation of DDB1 (600045) was detected; the DDB2 cDNA showed homozygosity for a C-to-T transition at nucleotide 937 in exon 7 of genomic DNA, generating a nonsense mutation in CGA (arg) to TGA (stop) at codon 313. This would be expected to produce a protein truncated by 115 amino acids. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DDB2, ASP307TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434642,
|
|
|
|
|
|
|
|
ClinVar: RCV000009335
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian woman with DDB-negative xeroderma pigmentosum, complementation group E (278740), Rapic-Otrin et al. (2003) identified homozygosity for a 1094G-T transversion in the DDB2 gene, resulting in an asp307-to-tyr (D307Y) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Balbo Pogliano, C., Gatti, M., Ruthemann, P., Garajova, Z., Penengo, L., Naegeli, H.
|
|
<strong>ASH1L histone methyltransferase regulates the handoff between damage recognition factors in global-genome nucleotide excision repair.</strong>
|
|
Nature Commun. 8: 1333, 2017.
|
|
|
|
|
|
[PubMed: 29109511]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/s41467-017-01080-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dualan, R., Brody, T., Keeney, S., Nichols, A. F., Admon, A., Linn, S.
|
|
<strong>Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein.</strong>
|
|
Genomics 29: 62-69, 1995.
|
|
|
|
|
|
[PubMed: 8530102]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1995.1215]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Groisman, R., Polanowska, J., Kuraoka, I., Sawada, J., Saijo, M., Drapkin, R., Kisselev, A. F., Tanaka, K., Nakatani, Y.
|
|
<strong>The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage.</strong>
|
|
Cell 113: 357-367, 2003.
|
|
|
|
|
|
[PubMed: 12732143]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0092-8674(03)00316-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hwang, B. J., Ford, J. M., Hanawalt, P. C., Chu, G.
|
|
<strong>Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genomic repair.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 424-428, 1999.
|
|
|
|
|
|
[PubMed: 9892649]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.96.2.424]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hwang, B. J., Toering, S., Francke, U., Chu, G.
|
|
<strong>p48 activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity.</strong>
|
|
Molec. Cell. Biol. 18: 4391-4399, 1998.
|
|
|
|
|
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[PubMed: 9632823]
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[Full Text: https://doi.org/10.1128/MCB.18.7.4391]
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Itoh, T., Mori, T., Ohkubo, H., Yamaizumi, M.
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<strong>A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts.</strong>
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J. Invest. Derm. 113: 251-257, 1999.
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[PubMed: 10469312]
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[Full Text: https://doi.org/10.1046/j.1523-1747.1999.00652.x]
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<li>
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<p class="mim-text-font">
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Nichols, A. F., Ong, P., Linn, S.
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<strong>Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype.</strong>
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J. Biol. Chem. 271: 24317-24320, 1996.
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[PubMed: 8798680]
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[Full Text: https://doi.org/10.1074/jbc.271.40.24317]
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Nichols, A. F.
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<strong>Personal Communication.</strong>
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Berkeley, Calif. 10/4/1995.
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<li>
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Rapic-Otrin, V., Navazza, V., Nardo, T., Botta, E., McLenigan, M., Bisi, D. C., Levine, A. S., Stefanini, M.
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<strong>True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.</strong>
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Hum. Molec. Genet. 12: 1507-1522, 2003.
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[PubMed: 12812979]
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[Full Text: https://doi.org/10.1093/hmg/ddg174]
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<li>
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<p class="mim-text-font">
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Shiyanov, P., Nag, A., Raychaudhuri, P.
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<strong>Cullin 4A associates with the UV-damaged DNA-binding protein DDB.</strong>
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J. Biol. Chem. 274: 35309-35312, 1999.
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[PubMed: 10585395]
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[Full Text: https://doi.org/10.1074/jbc.274.50.35309]
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</p>
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<li>
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Tang, J. Y., Hwang, B. J., Ford, J. M., Hanawalt, P. C., Chu, G.
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<strong>Xeroderma pigmentosum p48 gene enhances global genomic repair and suppresses UV-induced mutagenesis.</strong>
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Molec. Cell 5: 737-744, 2000.
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[PubMed: 10882109]
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[Full Text: https://doi.org/10.1016/s1097-2765(00)80252-x]
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Patricia A. Hartz - updated : 02/08/2018<br>Patricia A. Hartz - updated : 3/14/2013<br>Patricia A. Hartz - updated : 7/6/2006<br>George E. Tiller - updated : 4/26/2005<br>Patricia A. Hartz - updated : 11/5/2004<br>Stylianos E. Antonarakis - updated : 6/20/2000<br>Victor A. McKusick - updated : 11/1/1999<br>Victor A. McKusick - updated : 2/18/1999
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Victor A. McKusick : 10/30/1995
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