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Entry
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- *601440 - DIACYLGLYCEROL KINASE, EPSILON, 64-KD; DGKE
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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">*601440</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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<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/601440">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 id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel 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=ENSG00000153933;t=ENST00000284061" 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=8526" 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=601440" 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=ENSG00000153933;t=ENST00000284061" 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_003647,XM_011525394,XM_011525395,XM_011525396,XM_017025243,XM_017025244,XM_047436959,XM_047436960,XR_002958079" 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_003647" 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=601440" 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=03259&isoform_id=03259_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/DGKE" 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/1289445,1708625,4503313,5616188,18490832,62088310,119614932,120659970,120660298,158259539,767996265,767996267,767996269,1034601776,1034601779,2217314449,2217314455,2462558384,2462558386,2462558388,2462558390" 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/P52429" 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=8526" 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=ENSG00000153933;t=ENST00000284061" 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=DGKE" 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=DGKE" 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+8526" 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/DGKE" 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:8526" 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/8526" 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=chr17&hgg_gene=ENST00000284061.8&hgg_start=56834151&hgg_end=56869567&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:2852" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601440[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=601440[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/ENSG00000153933" 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=DGKE" 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=DGKE" 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=DGKE" 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=DGKE&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/PA27313" 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:2852" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0020930.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1889276" 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/DGKE#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:1889276" 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/8526/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=8526" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00000959;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-090512-7" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8526" 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=DGKE&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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601440
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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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DIACYLGLYCEROL KINASE, EPSILON, 64-KD; DGKE
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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>
|
|
<span class="mim-font">
|
|
DGK-EPSILON
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DGKE" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DGKE</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">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/17/769?start=-3&limit=10&highlight=769">17q22</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:56834151-56869567&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'})">17:56,834,151-56,869,567</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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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>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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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="2">
|
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<span class="mim-font">
|
|
<a href="/geneMap/17/769?start=-3&limit=10&highlight=769">
|
|
17q22
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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{Hemolytic uremic syndrome, atypical, susceptibility to, 7}
|
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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/615008"> 615008 </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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|
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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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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Nephrotic syndrome, type 7
|
|
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/615008"> 615008 </a>
|
|
|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/601440" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601440" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
|
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<h4>
|
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|
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<span class="mim-font">
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<p>The DGKE gene encodes diacylglycerol kinase-epsilon, an intracellular lipid kinase that phosphorylates diacylglycerol (DAG) to phosphatidic acid. DGKE is the smallest of the known mammalian DGKs and lacks extra-enzymatic regulatory domains, suggesting that it is constitutively active (summary by <a href="#3" class="mim-tip-reference" title="Ozaltin, F., Li, B., Rauhauser, A., An, S.-W., Soylemezoglu, O., Gonul, I. I., Taskiran, E. Z., Ibsirlioglu, T., Korkmaz, E., Bilginer, Y., Duzova, A., Ozen, S., and 21 others. <strong>DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.</strong> J. Am. Soc. Nephrol. 24: 377-384, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23274426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23274426</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23274426[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/10.1681/ASN.2012090903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23274426">Ozaltin et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23274426" 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>See <a href="/entry/125855">125855</a> for a general discussion of the diacylglycerol kinases.</p>
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<p>In a search for diacylglycerol kinase genes in humans, <a href="#4" class="mim-tip-reference" title="Tang, W., Bunting, M., Zimmerman, G. A., McIntyre, T. M., Prescott, S. M. <strong>Molecular cloning of a novel human diacylglycerol kinase highly selective for arachidonate-containing substrates.</strong> J. Biol. Chem. 271: 10237-10241, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8626589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8626589</a>]" pmid="8626589">Tang et al. (1996)</a> designed degenerate PCR primers based on conserved DGK catalytic domains to amplify products from a human endothelial cell cDNA library. A product with a novel sequence was identified and used to clone a 2.6-kb cDNA from an endothelial cell library. They named this gene DGK-epsilon. The cDNA encoded a 567-amino acid polypeptide with a predicted molecular weight of 64 kD. The catalytic region of DGK-epsilon shares 38 to 42% sequence identity with other DGKs, including DGK-alpha (<a href="/entry/125855">125855</a>) and DGK-delta (<a href="/entry/601207">601207</a>). When expressed in mammalian cells, DGK-epsilon showed specificity for arachidonyl-containing diacylglycerol. Northern blot analysis demonstrated that DGK-epsilon is expressed predominantly in testis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8626589" 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 immunofluorescence microscopy, <a href="#3" class="mim-tip-reference" title="Ozaltin, F., Li, B., Rauhauser, A., An, S.-W., Soylemezoglu, O., Gonul, I. I., Taskiran, E. Z., Ibsirlioglu, T., Korkmaz, E., Bilginer, Y., Duzova, A., Ozen, S., and 21 others. <strong>DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.</strong> J. Am. Soc. Nephrol. 24: 377-384, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23274426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23274426</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23274426[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/10.1681/ASN.2012090903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23274426">Ozaltin et al. (2013)</a> demonstrated that mouse and rat Dgke colocalized with the podocyte marker WT1 (<a href="/entry/607102">607102</a>), but not with the endothelial marker CD31 (<a href="/entry/173445">173445</a>). Western blot analysis confirmed these findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23274426" 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 protein blotting, <a href="#2" class="mim-tip-reference" title="Lemaire, M., Fremeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W. H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J. D., and 18 others. <strong>Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.</strong> Nature Genet. 45: 531-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542698</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542698[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542698">Lemaire et al. (2013)</a> found expression of DGKE in human endothelial cells and in the cytoplasmic and membrane fractions of platelets, 2 major cell types involved in thrombosis. DGKE was also expressed in the endothelium of glomerular capillaries and podocytes in human kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23542698" 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 and radiation hybrid analysis, <a href="#1" class="mim-tip-reference" title="Hart, T. C., Price, J. A., Bobby, P. L., Pettenati, M. J., Shashi, V., Von Kap Herr, C., Van Dyke, T. E. <strong>Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22.</strong> Genomics 56: 233-235, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10051413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10051413</a>] [<a href="https://doi.org/10.1006/geno.1998.5624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10051413">Hart et al. (1999)</a> mapped the DGKE gene to chromosome 17q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10051413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Nephrotic Syndrome, Type 7</em></strong></p><p>
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By homozygosity mapping combined with whole-exome analysis of a consanguineous family with early-onset nephrotic syndrome type 7 (NPHS7; <a href="/entry/615008">615008</a>) and membranoproliferative glomerulonephritis on renal biopsy, <a href="#3" class="mim-tip-reference" title="Ozaltin, F., Li, B., Rauhauser, A., An, S.-W., Soylemezoglu, O., Gonul, I. I., Taskiran, E. Z., Ibsirlioglu, T., Korkmaz, E., Bilginer, Y., Duzova, A., Ozen, S., and 21 others. <strong>DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.</strong> J. Am. Soc. Nephrol. 24: 377-384, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23274426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23274426</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23274426[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/10.1681/ASN.2012090903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23274426">Ozaltin et al. (2013)</a> identified a homozygous truncating mutation in the DGKE gene (Q43X; <a href="#0001">601440.0001</a>). Sequencing of this gene in 142 unrelated patients with a similar disorder identified 2 more consanguineous families with different homozygous truncating mutations (<a href="#0002">601440.0002</a> and <a href="#0003">601440.0003</a>). Patients had onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder was progressive, and some patients developed end-stage renal disease within several years. DGKE metabolizes and decreases intracellular DAG levels, thus contributing to the regulation of DAG levels. TRPC6 (<a href="/entry/603652">603652</a>) is a calcium-permeable cation channel expressed in the foot processes of podocytes and is known to be directly activated by DAG. In vitro functional expression studies in HEK293 cells showed that the DGKE mutants did not cause a decrease in TRPC6 current, as was observed with wildtype DGKE, consistent with a loss of DGKE function. The findings indicated that DGKE controls the intracellular concentration of DAG, which is a component of the phosphatidylinositol cycle that participates in multiple cellular functions and in lipid-mediated intracellular signaling. Perturbation of this pathway in podocytes may underlie the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23274426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Hemolytic Uremic Syndrome, Atypical, Susceptibility to</em></strong></p><p>
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In 13 patients from 9 families with early-onset atypical hemolytic uremic syndrome-7 (AHUS7; see <a href="/entry/615008">615008</a>), <a href="#2" class="mim-tip-reference" title="Lemaire, M., Fremeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W. H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J. D., and 18 others. <strong>Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.</strong> Nature Genet. 45: 531-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542698</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542698[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542698">Lemaire et al. (2013)</a> identified homozygous or compound heterozygous mutations in the DGKE gene (see, e.g., <a href="#0004">601440.0004</a>-<a href="#0008">601440.0008</a>). The disorder was characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episodes, most patients developed chronic kidney disease. The first mutations in 4 patients from 2 families were found by exome sequencing. Sequencing the DGKE gene in 47 additional unrelated probands with pediatric-onset aHUS and 36 adult-onset aHUS probands, in whom there was no mutation in known aHUS-associated genes or CFH antibodies, identified 6 additional pediatric index cases carrying rare homozygous or compound heterozygous DGKE variants. Another family with 3 affected individuals was identified independently. The mutations included 3 premature termination codons, 2 frameshift mutations, 1 splice site mutation, and 2 missense mutations that altered conserved residues. DGKE was a frequent cause of aHUS in the first year of life (13 (27%) of 49 cases with aHUS) and accounted for 50% of familial disease in this age group (3 of 6 kindreds). This uniformly early age of onset defined a distinct subgroup of aHUS. Renal biopsy of 1 patient showed no DGKE expression, suggesting that loss of DGKE function is the underlying mechanism. <a href="#2" class="mim-tip-reference" title="Lemaire, M., Fremeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W. H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J. D., and 18 others. <strong>Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.</strong> Nature Genet. 45: 531-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542698</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542698[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542698">Lemaire et al. (2013)</a> noted that DGKE phosphorylates and inactivates arachidonic acid-containing diacylglycerol (AA-DAG) to the corresponding phosphatidic acid. AA-DAG is major signaling molecule that activates protein kinase C (PKC). PKC, in turn, increases the production of various prothrombotic factors in endothelial cells. Thus, loss of DGKE may result in sustained AA-DAG signaling, causing a prothrombotic state. In addition, DAGs modify slit diaphragm function in podocytes, a disturbance of which is consistent with renal-specific effects. The findings were important because this was the first genetic cause of aHUS not related to defects in genes encoding proteins in the complement cascade pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23542698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 sibs, born of consanguineous Turkish parents, with nephrotic syndrome type 7 (NPHS7; <a href="/entry/615008">615008</a>), <a href="#3" class="mim-tip-reference" title="Ozaltin, F., Li, B., Rauhauser, A., An, S.-W., Soylemezoglu, O., Gonul, I. I., Taskiran, E. Z., Ibsirlioglu, T., Korkmaz, E., Bilginer, Y., Duzova, A., Ozen, S., and 21 others. <strong>DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.</strong> J. Am. Soc. Nephrol. 24: 377-384, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23274426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23274426</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23274426[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/10.1681/ASN.2012090903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23274426">Ozaltin et al. (2013)</a> identified a homozygous 127C-T transition in exon 2 of the DGKE gene, resulting in a gln43-to-ter (Q43X) substitution that results in a truncated protein missing all the functional domains. The mutation was identified using a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing. The unaffected parents were heterozygous for the mutation, which was not found in 332 control chromosomes or in several large databases. In vitro functional expression studies showed that the mutation resulted in a loss of function with an inability to regulate DAG levels properly in podocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23274426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032779 OR RCV001849287 OR RCV005089331" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032779, RCV001849287, RCV005089331" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032779...</a>
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<p>In 2 sibs, born of consanguineous Turkish parents, with nephrotic syndrome type 7 (NPHS7; <a href="/entry/615008">615008</a>), <a href="#3" class="mim-tip-reference" title="Ozaltin, F., Li, B., Rauhauser, A., An, S.-W., Soylemezoglu, O., Gonul, I. I., Taskiran, E. Z., Ibsirlioglu, T., Korkmaz, E., Bilginer, Y., Duzova, A., Ozen, S., and 21 others. <strong>DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.</strong> J. Am. Soc. Nephrol. 24: 377-384, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23274426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23274426</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23274426[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/10.1681/ASN.2012090903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23274426">Ozaltin et al. (2013)</a> identified a 1-bp deletion (610delA) in exon 2 of the DGKE gene, resulting in a frameshift and premature termination (Thr204GlnfsTer6). The unaffected parents was heterozygous for the mutation. A heterozygous 610delA allele was found in 1 individual in the 1000 Genomes Project, but was not present in 6,503 samples of another exome database, yielding an allele frequency of 0.0002. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23274426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255231 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255231;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=rs879255231" 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=rs879255231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 sibs, born of consanguineous parents of Lebanese origin, with nephrotic syndrome type 7 (NPHS7; <a href="/entry/615008">615008</a>), <a href="#3" class="mim-tip-reference" title="Ozaltin, F., Li, B., Rauhauser, A., An, S.-W., Soylemezoglu, O., Gonul, I. I., Taskiran, E. Z., Ibsirlioglu, T., Korkmaz, E., Bilginer, Y., Duzova, A., Ozen, S., and 21 others. <strong>DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.</strong> J. Am. Soc. Nephrol. 24: 377-384, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23274426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23274426</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23274426[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/10.1681/ASN.2012090903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23274426">Ozaltin et al. (2013)</a> identified a homozygous A-to-G transition in intron 5 of the DGKE gene (889-2A-G) resulting in the production of an abnormal transcript predicted to create a premature stop codon (W350X). The abnormal transcript was subject to nonsense-mediated mRNA decay. The unaffected parents were heterozygous for the mutation, which was not found in 332 control chromosomes or in several large databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23274426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs138924661 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs138924661;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/rs138924661?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=rs138924661" 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=rs138924661" 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=RCV000043567 OR RCV000122617 OR RCV000760165 OR RCV001854681" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043567, RCV000122617, RCV000760165, RCV001854681" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043567...</a>
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<p>In 2 sibs of European ancestry with atypical hemolytic-uremic syndrome-7 (AHUS7; see <a href="/entry/615008">615008</a>), <a href="#2" class="mim-tip-reference" title="Lemaire, M., Fremeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W. H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J. D., and 18 others. <strong>Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.</strong> Nature Genet. 45: 531-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542698</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542698[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542698">Lemaire et al. (2013)</a> identified a homozygous c.966G-A transition in the DGKE gene, resulting in a trp322-to-ter (W322X) substitution in the kinase catalytic domain. The mutations were found by exome sequencing. Two additional patients with the disorder were also found to be homozygous for the W322X mutation, and haplotype analysis of the 3 families indicated a founder effect. Two further patients with a similar disorder carried the W322X mutation in compound heterozygosity with another mutation in the DGKE gene (see, e.g., S11X, <a href="#0007">601440.0007</a>). The W322X mutation was found in heterozygous state in 1 of 8,475 controls of European ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23542698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs312262699 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs312262699;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=rs312262699" 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=rs312262699" 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=RCV000043568 OR RCV000122614" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043568, RCV000122614" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043568...</a>
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<p>In 2 sibs with atypical hemolytic-uremic syndrome-7 (AHUS7; see <a href="/entry/615008">615008</a>), <a href="#2" class="mim-tip-reference" title="Lemaire, M., Fremeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W. H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J. D., and 18 others. <strong>Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.</strong> Nature Genet. 45: 531-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542698</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542698[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542698">Lemaire et al. (2013)</a> identified compound heterozygous mutations in the DGKE gene: a 1-bp insertion (c.486insA), resulting in a frameshift and premature termination (Val163SerfsTer3) in a C1 domain that binds DAG, and a c.188G-C transversion, resulting in an arg63-to-pro (R63P; <a href="#0006">601440.0006</a>) substitution at a conserved residue in a C1 domain that binds DAG. Neither mutation was found in 8,475 control subjects. No functional studies of the mutations were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23542698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs312262694 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs312262694;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=rs312262694" 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=rs312262694" 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=RCV000043569" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043569" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043569</a>
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<p>For discussion of the arg63-to-pro (R63P) mutation in the DGKE gene that was found in compound heterozygous state in 2 sibs with atypical hemolytic-uremic syndrome-7 (AHUS7; see <a href="/entry/615008">615008</a>) by <a href="#2" class="mim-tip-reference" title="Lemaire, M., Fremeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W. H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J. D., and 18 others. <strong>Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.</strong> Nature Genet. 45: 531-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542698</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542698[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542698">Lemaire et al. (2013)</a>, see <a href="#0005">601440.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23542698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7</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">rs148605410 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs148605410;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=rs148605410" 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=rs148605410" 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=RCV000043570 OR RCV000122612" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043570, RCV000122612" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043570...</a>
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<p>In a patient with atypical hemolytic-uremic syndrome-7 (AHUS7; see <a href="/entry/615008">615008</a>), <a href="#2" class="mim-tip-reference" title="Lemaire, M., Fremeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W. H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J. D., and 18 others. <strong>Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.</strong> Nature Genet. 45: 531-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542698</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542698[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542698">Lemaire et al. (2013)</a> identified compound heterozygous mutations in the DGKE gene: a c.32C-A transversion, resulting in a ser11-to-ter (S11X) substitution in the N-terminal region, and W322X (<a href="#0004">601440.0004</a>). The S11X mutation was not found in 8,475 control subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23542698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs312262695 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs312262695;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/rs312262695?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=rs312262695" 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=rs312262695" 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=RCV000043571 OR RCV000122615" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043571, RCV000122615" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043571...</a>
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<p>In 3 German sibs, born of consanguineous parents, with atypical hemolytic-uremic syndrome-7 (AHUS7; see <a href="/entry/615008">615008</a>), <a href="#2" class="mim-tip-reference" title="Lemaire, M., Fremeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W. H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J. D., and 18 others. <strong>Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.</strong> Nature Genet. 45: 531-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542698</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542698[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23542698">Lemaire et al. (2013)</a> identified a homozygous c.818G-C transversion in the DGKE gene, resulting in an arg273-to-pro (R273P) substitution at a highly conserved residue in the catalytic kinase domain. The mutation was not found in 8,475 control subjects. No functional studies were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23542698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Hart, T. C., Price, J. A., Bobby, P. L., Pettenati, M. J., Shashi, V., Von Kap Herr, C., Van Dyke, T. E.
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<strong>Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22.</strong>
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Genomics 56: 233-235, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10051413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10051413</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10051413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1998.5624" target="_blank">Full Text</a>]
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Lemaire, M., Fremeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W. H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J. D., and 18 others.
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<strong>Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.</strong>
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Nature Genet. 45: 531-536, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23542698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23542698</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23542698[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=23542698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2590" target="_blank">Full Text</a>]
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Ozaltin, F., Li, B., Rauhauser, A., An, S.-W., Soylemezoglu, O., Gonul, I. I., Taskiran, E. Z., Ibsirlioglu, T., Korkmaz, E., Bilginer, Y., Duzova, A., Ozen, S., and 21 others.
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<strong>DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.</strong>
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J. Am. Soc. Nephrol. 24: 377-384, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23274426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23274426</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23274426[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=23274426" 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/10.1681/ASN.2012090903" target="_blank">Full Text</a>]
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Tang, W., Bunting, M., Zimmerman, G. A., McIntyre, T. M., Prescott, S. M.
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<strong>Molecular cloning of a novel human diacylglycerol kinase highly selective for arachidonate-containing substrates.</strong>
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J. Biol. Chem. 271: 10237-10241, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8626589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8626589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8626589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 5/31/2013
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Cassandra L. Kniffin - updated : 1/9/2013<br>Carol A. Bocchini - updated : 4/4/1999
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Lori M. Kelman : 9/23/1996
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mcolton : 7/23/2015<br>carol : 9/9/2013<br>carol : 6/3/2013<br>ckniffin : 5/31/2013<br>carol : 5/23/2013<br>carol : 3/14/2013<br>carol : 1/9/2013<br>ckniffin : 1/9/2013<br>mgross : 4/6/1999<br>carol : 4/4/1999<br>alopez : 10/16/1998<br>mark : 9/24/1996<br>terry : 9/24/1996<br>mark : 9/24/1996
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DIACYLGLYCEROL KINASE, EPSILON, 64-KD; DGKE
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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DGK-EPSILON
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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: DGKE</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: 17q22
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:56,834,151-56,869,567 </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="2">
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<span class="mim-font">
|
|
17q22
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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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|
{Hemolytic uremic syndrome, atypical, susceptibility to, 7}
|
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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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615008
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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3
|
|
</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
Nephrotic syndrome, type 7
|
|
</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
615008
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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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">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>The DGKE gene encodes diacylglycerol kinase-epsilon, an intracellular lipid kinase that phosphorylates diacylglycerol (DAG) to phosphatidic acid. DGKE is the smallest of the known mammalian DGKs and lacks extra-enzymatic regulatory domains, suggesting that it is constitutively active (summary by Ozaltin et al., 2013). </p><p>See 125855 for a general discussion of the diacylglycerol kinases.</p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>In a search for diacylglycerol kinase genes in humans, Tang et al. (1996) designed degenerate PCR primers based on conserved DGK catalytic domains to amplify products from a human endothelial cell cDNA library. A product with a novel sequence was identified and used to clone a 2.6-kb cDNA from an endothelial cell library. They named this gene DGK-epsilon. The cDNA encoded a 567-amino acid polypeptide with a predicted molecular weight of 64 kD. The catalytic region of DGK-epsilon shares 38 to 42% sequence identity with other DGKs, including DGK-alpha (125855) and DGK-delta (601207). When expressed in mammalian cells, DGK-epsilon showed specificity for arachidonyl-containing diacylglycerol. Northern blot analysis demonstrated that DGK-epsilon is expressed predominantly in testis. </p><p>Using immunofluorescence microscopy, Ozaltin et al. (2013) demonstrated that mouse and rat Dgke colocalized with the podocyte marker WT1 (607102), but not with the endothelial marker CD31 (173445). Western blot analysis confirmed these findings. </p><p>By protein blotting, Lemaire et al. (2013) found expression of DGKE in human endothelial cells and in the cytoplasmic and membrane fractions of platelets, 2 major cell types involved in thrombosis. DGKE was also expressed in the endothelium of glomerular capillaries and podocytes in human kidney. </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>
|
|
</span>
|
|
</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>By fluorescence in situ hybridization and radiation hybrid analysis, Hart et al. (1999) mapped the DGKE gene to chromosome 17q22. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Nephrotic Syndrome, Type 7</em></strong></p><p>
|
|
By homozygosity mapping combined with whole-exome analysis of a consanguineous family with early-onset nephrotic syndrome type 7 (NPHS7; 615008) and membranoproliferative glomerulonephritis on renal biopsy, Ozaltin et al. (2013) identified a homozygous truncating mutation in the DGKE gene (Q43X; 601440.0001). Sequencing of this gene in 142 unrelated patients with a similar disorder identified 2 more consanguineous families with different homozygous truncating mutations (601440.0002 and 601440.0003). Patients had onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder was progressive, and some patients developed end-stage renal disease within several years. DGKE metabolizes and decreases intracellular DAG levels, thus contributing to the regulation of DAG levels. TRPC6 (603652) is a calcium-permeable cation channel expressed in the foot processes of podocytes and is known to be directly activated by DAG. In vitro functional expression studies in HEK293 cells showed that the DGKE mutants did not cause a decrease in TRPC6 current, as was observed with wildtype DGKE, consistent with a loss of DGKE function. The findings indicated that DGKE controls the intracellular concentration of DAG, which is a component of the phosphatidylinositol cycle that participates in multiple cellular functions and in lipid-mediated intracellular signaling. Perturbation of this pathway in podocytes may underlie the disorder. </p><p><strong><em>Hemolytic Uremic Syndrome, Atypical, Susceptibility to</em></strong></p><p>
|
|
In 13 patients from 9 families with early-onset atypical hemolytic uremic syndrome-7 (AHUS7; see 615008), Lemaire et al. (2013) identified homozygous or compound heterozygous mutations in the DGKE gene (see, e.g., 601440.0004-601440.0008). The disorder was characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episodes, most patients developed chronic kidney disease. The first mutations in 4 patients from 2 families were found by exome sequencing. Sequencing the DGKE gene in 47 additional unrelated probands with pediatric-onset aHUS and 36 adult-onset aHUS probands, in whom there was no mutation in known aHUS-associated genes or CFH antibodies, identified 6 additional pediatric index cases carrying rare homozygous or compound heterozygous DGKE variants. Another family with 3 affected individuals was identified independently. The mutations included 3 premature termination codons, 2 frameshift mutations, 1 splice site mutation, and 2 missense mutations that altered conserved residues. DGKE was a frequent cause of aHUS in the first year of life (13 (27%) of 49 cases with aHUS) and accounted for 50% of familial disease in this age group (3 of 6 kindreds). This uniformly early age of onset defined a distinct subgroup of aHUS. Renal biopsy of 1 patient showed no DGKE expression, suggesting that loss of DGKE function is the underlying mechanism. Lemaire et al. (2013) noted that DGKE phosphorylates and inactivates arachidonic acid-containing diacylglycerol (AA-DAG) to the corresponding phosphatidic acid. AA-DAG is major signaling molecule that activates protein kinase C (PKC). PKC, in turn, increases the production of various prothrombotic factors in endothelial cells. Thus, loss of DGKE may result in sustained AA-DAG signaling, causing a prothrombotic state. In addition, DAGs modify slit diaphragm function in podocytes, a disturbance of which is consistent with renal-specific effects. The findings were important because this was the first genetic cause of aHUS not related to defects in genes encoding proteins in the complement cascade pathway. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>8 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 NEPHROTIC SYNDROME, TYPE 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DGKE, GLN43TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs398123008,
|
|
|
|
|
|
|
|
ClinVar: RCV000032778
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 sibs, born of consanguineous Turkish parents, with nephrotic syndrome type 7 (NPHS7; 615008), Ozaltin et al. (2013) identified a homozygous 127C-T transition in exon 2 of the DGKE gene, resulting in a gln43-to-ter (Q43X) substitution that results in a truncated protein missing all the functional domains. The mutation was identified using a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing. The unaffected parents were heterozygous for the mutation, which was not found in 332 control chromosomes or in several large databases. In vitro functional expression studies showed that the mutation resulted in a loss of function with an inability to regulate DAG levels properly in podocytes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 NEPHROTIC SYNDROME, TYPE 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DGKE, 1-BP DEL, 610A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs147972030,
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|
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|
|
|
|
|
ClinVar: RCV000032779, RCV001849287, RCV005089331
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs, born of consanguineous Turkish parents, with nephrotic syndrome type 7 (NPHS7; 615008), Ozaltin et al. (2013) identified a 1-bp deletion (610delA) in exon 2 of the DGKE gene, resulting in a frameshift and premature termination (Thr204GlnfsTer6). The unaffected parents was heterozygous for the mutation. A heterozygous 610delA allele was found in 1 individual in the 1000 Genomes Project, but was not present in 6,503 samples of another exome database, yielding an allele frequency of 0.0002. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 NEPHROTIC SYNDROME, TYPE 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DGKE, IVS5AS, A-G, -2
|
|
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|
|
|
<br />
|
|
|
|
SNP: rs879255231,
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|
|
|
|
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|
|
ClinVar: RCV000032780
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 sibs, born of consanguineous parents of Lebanese origin, with nephrotic syndrome type 7 (NPHS7; 615008), Ozaltin et al. (2013) identified a homozygous A-to-G transition in intron 5 of the DGKE gene (889-2A-G) resulting in the production of an abnormal transcript predicted to create a premature stop codon (W350X). The abnormal transcript was subject to nonsense-mediated mRNA decay. The unaffected parents were heterozygous for the mutation, which was not found in 332 control chromosomes or in several large databases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
DGKE, TRP322TER
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|
|
|
|
|
<br />
|
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|
|
SNP: rs138924661,
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|
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gnomAD: rs138924661,
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|
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ClinVar: RCV000043567, RCV000122617, RCV000760165, RCV001854681
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs of European ancestry with atypical hemolytic-uremic syndrome-7 (AHUS7; see 615008), Lemaire et al. (2013) identified a homozygous c.966G-A transition in the DGKE gene, resulting in a trp322-to-ter (W322X) substitution in the kinase catalytic domain. The mutations were found by exome sequencing. Two additional patients with the disorder were also found to be homozygous for the W322X mutation, and haplotype analysis of the 3 families indicated a founder effect. Two further patients with a similar disorder carried the W322X mutation in compound heterozygosity with another mutation in the DGKE gene (see, e.g., S11X, 601440.0007). The W322X mutation was found in heterozygous state in 1 of 8,475 controls of European ancestry. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DGKE, 1-BP INS, 486A
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs312262699,
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|
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|
|
|
|
|
ClinVar: RCV000043568, RCV000122614
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with atypical hemolytic-uremic syndrome-7 (AHUS7; see 615008), Lemaire et al. (2013) identified compound heterozygous mutations in the DGKE gene: a 1-bp insertion (c.486insA), resulting in a frameshift and premature termination (Val163SerfsTer3) in a C1 domain that binds DAG, and a c.188G-C transversion, resulting in an arg63-to-pro (R63P; 601440.0006) substitution at a conserved residue in a C1 domain that binds DAG. Neither mutation was found in 8,475 control subjects. No functional studies of the mutations were performed. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
|
|
|
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DGKE, ARG63PRO
|
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<br />
|
|
|
|
SNP: rs312262694,
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ClinVar: RCV000043569
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</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg63-to-pro (R63P) mutation in the DGKE gene that was found in compound heterozygous state in 2 sibs with atypical hemolytic-uremic syndrome-7 (AHUS7; see 615008) by Lemaire et al. (2013), see 601440.0005. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
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<span class="mim-text-font">
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DGKE, SER11TER
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<br />
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SNP: rs148605410,
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ClinVar: RCV000043570, RCV000122612
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with atypical hemolytic-uremic syndrome-7 (AHUS7; see 615008), Lemaire et al. (2013) identified compound heterozygous mutations in the DGKE gene: a c.32C-A transversion, resulting in a ser11-to-ter (S11X) substitution in the N-terminal region, and W322X (601440.0004). The S11X mutation was not found in 8,475 control subjects. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DGKE, ARG273PRO
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<br />
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SNP: rs312262695,
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gnomAD: rs312262695,
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ClinVar: RCV000043571, RCV000122615
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 German sibs, born of consanguineous parents, with atypical hemolytic-uremic syndrome-7 (AHUS7; see 615008), Lemaire et al. (2013) identified a homozygous c.818G-C transversion in the DGKE gene, resulting in an arg273-to-pro (R273P) substitution at a highly conserved residue in the catalytic kinase domain. The mutation was not found in 8,475 control subjects. No functional studies were performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Hart, T. C., Price, J. A., Bobby, P. L., Pettenati, M. J., Shashi, V., Von Kap Herr, C., Van Dyke, T. E.
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<strong>Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22.</strong>
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Genomics 56: 233-235, 1999.
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[PubMed: 10051413]
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[Full Text: https://doi.org/10.1006/geno.1998.5624]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lemaire, M., Fremeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W. H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J. D., and 18 others.
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<strong>Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.</strong>
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Nature Genet. 45: 531-536, 2013.
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[PubMed: 23542698]
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[Full Text: https://doi.org/10.1038/ng.2590]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ozaltin, F., Li, B., Rauhauser, A., An, S.-W., Soylemezoglu, O., Gonul, I. I., Taskiran, E. Z., Ibsirlioglu, T., Korkmaz, E., Bilginer, Y., Duzova, A., Ozen, S., and 21 others.
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<strong>DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.</strong>
|
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J. Am. Soc. Nephrol. 24: 377-384, 2013.
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[PubMed: 23274426]
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[Full Text: https://doi.org/10.1681/ASN.2012090903]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tang, W., Bunting, M., Zimmerman, G. A., McIntyre, T. M., Prescott, S. M.
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<strong>Molecular cloning of a novel human diacylglycerol kinase highly selective for arachidonate-containing substrates.</strong>
|
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J. Biol. Chem. 271: 10237-10241, 1996.
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[PubMed: 8626589]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/31/2013<br>Cassandra L. Kniffin - updated : 1/9/2013<br>Carol A. Bocchini - updated : 4/4/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Lori M. Kelman : 9/23/1996
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</span>
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</div>
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</div>
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<br />
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<span class="text-nowrap mim-text-font">
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/24/2015<br>mcolton : 7/23/2015<br>carol : 9/9/2013<br>carol : 6/3/2013<br>ckniffin : 5/31/2013<br>carol : 5/23/2013<br>carol : 3/14/2013<br>carol : 1/9/2013<br>ckniffin : 1/9/2013<br>mgross : 4/6/1999<br>carol : 4/4/1999<br>alopez : 10/16/1998<br>mark : 9/24/1996<br>terry : 9/24/1996<br>mark : 9/24/1996
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