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<title>
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Entry
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- *603564 - DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 2, REGULATORY SUBUNIT; DPM2
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- OMIM
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<li class="dropdown-header">
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Advanced Search
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<div class="row">
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<p />
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603564</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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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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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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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603564">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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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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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000136908;t=ENST00000314392" 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=8818" 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=603564" 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=ENSG00000136908;t=ENST00000314392" 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_001378436,NM_001378437,NM_003863,NR_165631,NR_165632" 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_003863" 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=603564" 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=16028&isoform_id=16028_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/DPM2" 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/3790363,4503365,8134407,12001994,15929904,21955451,49457264,81294280,189053251,197692359,197692647,1808862641,1808862670" 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/O94777" 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=8818" 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=ENSG00000136908;t=ENST00000314392" 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=DPM2" 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=DPM2" 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+8818" 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/DPM2" 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:8818" 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/8818" 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=chr9&hgg_gene=ENST00000314392.13&hgg_start=127935099&hgg_end=127937854&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">
|
|
<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">
|
|
<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/genes/HGNC:3006" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603564[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=603564[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/ENSG00000136908" 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.gwascentral.org/search?q=DPM2" 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=DPM2" 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=DPM2&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/PA27464" 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:3006" 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/FBgn0259933.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:1330238" 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/DPM2#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:1330238" 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/8818/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=8818" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-9093" 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">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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:8818" 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=DPM2&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 782772000<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
603564
|
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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>
|
|
<h3>
|
|
<span class="mim-font">
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DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 2, REGULATORY SUBUNIT; DPM2
|
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</span>
|
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</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 2<br />
|
|
DOLICHOL-PHOSPHATE MANNOSE SYNTHASE 2
|
|
</span>
|
|
</h4>
|
|
</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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DPM2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DPM2</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/9/530?start=-3&limit=10&highlight=530">9q34.11</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:127935099-127937854&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'})">9:127,935,099-127,937,854</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/530?start=-3&limit=10&highlight=530">
|
|
9q34.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital disorder of glycosylation, type Iu
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615042"> 615042 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
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<p>The DPM2 gene encodes dolichyl-phosphate mannosyltransferase-2, a regulatory subunit of the heterotrimeric dolichol-phosphate-mannose synthase complex (summary by <a href="#1" class="mim-tip-reference" title="Barone, R., Aiello, C., Race, V., Morava, E., Foulquier, F., Riemersma, M., Passarelli, C., Concolino, D., Carella, M., Santorelli, F., Vleugels, W., Mercuri, E., and 9 others. <strong>DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.</strong> Ann. Neurol. 72: 550-558, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23109149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23109149</a>] [<a href="https://doi.org/10.1002/ana.23632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23109149">Barone et al., 2012</a>). Dolichol-phosphate mannose (Dol-P-Man) acts as a donor for mannosylation reactions occurring on the luminal side of the endoplasmic reticulum (ER). Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme Dol-P-Man synthase (<a href="https://enzyme.expasy.org/EC/2.4.1.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.1.83</a>) (<a href="#4" class="mim-tip-reference" title="Maeda, Y., Tomita, S., Watanabe, R., Ohishi, K., Kinoshita, T. <strong>DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate.</strong> EMBO J. 17: 4920-4929, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9724629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9724629</a>] [<a href="https://doi.org/10.1093/emboj/17.17.4920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9724629">Maeda et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23109149+9724629" 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>Mouse Thy1 (<a href="/entry/188230">188230</a>)-negative lymphoma mutant cells of complementation class E and Chinese hamster ovary (CHO) Lec15 mutant cells are defective in Dol-P-Man synthesis. Consequently, they do not synthesize glycosylphosphatidylinositol (GPI), whose biosynthesis is dependent on Dol-P-Man, resulting in the defective surface expression of GPI-anchored proteins such as Thy1. The human Dol-P-Man synthase-1 (DPM1; <a href="/entry/603503">603503</a>) gene is responsible for the defect of class E cells, but it does not complement the defective Dol-P-Man synthesis in Lec15 cells, indicating that DPM1 is not sufficient for Dol-P-Man synthesis. <a href="#4" class="mim-tip-reference" title="Maeda, Y., Tomita, S., Watanabe, R., Ohishi, K., Kinoshita, T. <strong>DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate.</strong> EMBO J. 17: 4920-4929, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9724629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9724629</a>] [<a href="https://doi.org/10.1093/emboj/17.17.4920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9724629">Maeda et al. (1998)</a> used expression cloning to isolate rat cDNAs that restored GPI anchor synthesis in Lec15 cells. The cDNAs corresponded to a gene that the authors designated Dpm2. By searching an EST database for homologs of rat Dpm2, they identified cDNAs encoding human and mouse DPM2. The deduced 84-amino acid human protein shares 88% sequence identity with rat Dpm2. DPM2 is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. Cell fractionation and immunofluorescence studies indicated that DPM2 is expressed in the ER membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9724629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Maeda, Y., Tomita, S., Watanabe, R., Ohishi, K., Kinoshita, T. <strong>DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate.</strong> EMBO J. 17: 4920-4929, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9724629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9724629</a>] [<a href="https://doi.org/10.1093/emboj/17.17.4920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9724629">Maeda et al. (1998)</a> found that DPM2 associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1. A lack of ER localization of DPM1 coincided with lowered DPM1 expression in Lec15 cells, suggesting that DPM2-dependent localization of DPM1 to the ER is important for its stability. DPM2 also enhances the binding of dolichol-phosphate to DPM1. <a href="#4" class="mim-tip-reference" title="Maeda, Y., Tomita, S., Watanabe, R., Ohishi, K., Kinoshita, T. <strong>DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate.</strong> EMBO J. 17: 4920-4929, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9724629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9724629</a>] [<a href="https://doi.org/10.1093/emboj/17.17.4920" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9724629">Maeda et al. (1998)</a> concluded that the biosynthesis of Dol-P-Man in mammalian cells is regulated by DPM2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9724629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T. <strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong> EMBO J. 19: 2475-2482, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10835346[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/10.1093/emboj/19.11.2475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835346">Maeda et al. (2000)</a> purified human Dol-P-Man synthase and demonstrated that the enzyme is a protein complex with 3 subunits, DPM1, DPM2, and DPM3 (<a href="/entry/605951">605951</a>). They concluded that DPM2 associates with the N-terminal domain of DPM3 and that this interaction stabilizes DPM3; DPM3, in turn, stabilizes DPM1. Using DPM2-deficient cells, <a href="#3" class="mim-tip-reference" title="Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T. <strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong> EMBO J. 19: 2475-2482, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10835346[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/10.1093/emboj/19.11.2475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10835346">Maeda et al. (2000)</a> demonstrated that DPM2 is not essential for Dol-P-Man synthase activity; however, the presence of DPM2 significantly increases the specific enzymatic activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10835346" 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 3 patients from 2 unrelated Sicilian families with congenital disorder of glycosylation type Iu (CDG1U; <a href="/entry/615042">615042</a>), <a href="#1" class="mim-tip-reference" title="Barone, R., Aiello, C., Race, V., Morava, E., Foulquier, F., Riemersma, M., Passarelli, C., Concolino, D., Carella, M., Santorelli, F., Vleugels, W., Mercuri, E., and 9 others. <strong>DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.</strong> Ann. Neurol. 72: 550-558, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23109149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23109149</a>] [<a href="https://doi.org/10.1002/ana.23632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23109149">Barone et al. (2012)</a> identified homozygous or compound heterozygous mutations in the DPM2 gene (<a href="#0001">603564.0001</a> and <a href="#0002">603564.0002</a>). DPM synthase activity was severely decreased in patient fibroblasts. The patients had a severe neurologic phenotype with lack of psychomotor development and death in the first years of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23109149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 23-year-old man with CDG1U, <a href="#6" class="mim-tip-reference" title="Radenkovic, S., Fitzpatrick-Schmidt, T., Byeon S. K., Madugundu, A. K., Saraswat, M., Lichty, A., Wong, S. Y. W., McGee, S., Kubiak, K., Ligezka, A., Ranatunga, W., Zhang, Y., Wood, T., Friez, M. J., Clarkson, K., Pandey, A., Jones, J. R., Morava, E. <strong>Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.</strong> Molec. Genet. Metab. 132: 27-37, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33129689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33129689</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33129689">Radenkovic et al. (2021)</a> identified compound heterozygous mutations in the DPM2 gene (<a href="#0003">603564.0003</a> and <a href="#0004">603564.0004</a>). The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing. Each parent was a carrier of one of the mutations. Patient fibroblasts had reduced DPM2 protein expression compared to controls, as well as decreased DPM1 expression, which is dependent on normal DPM2 and DPM3 expression. <a href="#6" class="mim-tip-reference" title="Radenkovic, S., Fitzpatrick-Schmidt, T., Byeon S. K., Madugundu, A. K., Saraswat, M., Lichty, A., Wong, S. Y. W., McGee, S., Kubiak, K., Ligezka, A., Ranatunga, W., Zhang, Y., Wood, T., Friez, M. J., Clarkson, K., Pandey, A., Jones, J. R., Morava, E. <strong>Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.</strong> Molec. Genet. Metab. 132: 27-37, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33129689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33129689</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33129689">Radenkovic et al. (2021)</a> also identified a significant decrease of ICAM1 (<a href="/entry/147840">147840</a>) protein expression, which suggested abnormal N-linked glycosylation. LAMP2 (<a href="/entry/309060">309060</a>) expression was also reduced, which was consistent with glycosylation abnormalities. Glycomics analysis in patient fibroblasts was consistent with a CDG type I profile. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33129689" 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 a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#2" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>] [<a href="https://doi.org/10.1038/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human DPM2 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" 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=603564[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<a id="0001" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu</strong>
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</span>
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DPM2, TYR23CYS
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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> rs397514503 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514503;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/rs397514503?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=rs397514503" 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=rs397514503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032641" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032641" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032641</a>
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<p>In 2 brothers, born of consanguineous Sicilian parents, with congenital disorder of glycosylation type Iu (CDG1U; <a href="/entry/615042">615042</a>), <a href="#1" class="mim-tip-reference" title="Barone, R., Aiello, C., Race, V., Morava, E., Foulquier, F., Riemersma, M., Passarelli, C., Concolino, D., Carella, M., Santorelli, F., Vleugels, W., Mercuri, E., and 9 others. <strong>DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.</strong> Ann. Neurol. 72: 550-558, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23109149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23109149</a>] [<a href="https://doi.org/10.1002/ana.23632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23109149">Barone et al. (2012)</a> identified a homozygous 68A-G transition in exon 1 of the DPM2 gene, resulting in a tyr23-to-cys (Y23C) substitution at a highly conserved residue encoding a transmembrane domain. The mutation was not found in more than 1,600 control exomes. An unrelated patient, also of Sicilian origin, with a similar disorder was compound heterozygous for Y23C and a G-to-C transversion in intron 1 of the DPM2 gene (c.4-1G-C; <a href="#0002">603564.0002</a>), resulting in the skipping of exon 2. The brothers were originally reported by <a href="#5" class="mim-tip-reference" title="Messina, S., Tortorella, G., Concolino, D., Spano, M., D'Amico, A., Bruno, C., Santorelli, F. M., Mercuri, E., Bertini, E. <strong>Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.</strong> Neurology 73: 1599-1601, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19901254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19901254</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181c0d47a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19901254">Messina et al. (2009)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19901254+23109149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0002" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu</strong>
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</span>
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</h4>
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DPM2, IVS1AS, G-C, -1
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044467 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044467;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=rs797044467" 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=rs797044467" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032642" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032642" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032642</a>
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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>For discussion of the splice site mutation (c.4-1G-C) in the DPM2 gene that was found in compound heterozygous state in a Sicilian patient with congenital disorder of glycosylation type Iu (CDG1U; <a href="/entry/615042">615042</a>) by <a href="#1" class="mim-tip-reference" title="Barone, R., Aiello, C., Race, V., Morava, E., Foulquier, F., Riemersma, M., Passarelli, C., Concolino, D., Carella, M., Santorelli, F., Vleugels, W., Mercuri, E., and 9 others. <strong>DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.</strong> Ann. Neurol. 72: 550-558, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23109149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23109149</a>] [<a href="https://doi.org/10.1002/ana.23632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23109149">Barone et al. (2012)</a>, see <a href="#0001">603564.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23109149" 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>
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<a id="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu</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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<div style="float: left;">
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DPM2, ARG47TER
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</div>
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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> rs549450795 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs549450795;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/rs549450795?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=rs549450795" 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=rs549450795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001375849" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001375849" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001375849</a>
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</span>
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<span class="mim-text-font">
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<p>In a 23-year-old man with congenital disorder of glycosylation type Iu (CDG1U; <a href="/entry/615042">615042</a>), <a href="#6" class="mim-tip-reference" title="Radenkovic, S., Fitzpatrick-Schmidt, T., Byeon S. K., Madugundu, A. K., Saraswat, M., Lichty, A., Wong, S. Y. W., McGee, S., Kubiak, K., Ligezka, A., Ranatunga, W., Zhang, Y., Wood, T., Friez, M. J., Clarkson, K., Pandey, A., Jones, J. R., Morava, E. <strong>Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.</strong> Molec. Genet. Metab. 132: 27-37, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33129689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33129689</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33129689">Radenkovic et al. (2021)</a> identified compound heterozygous mutations in the DPM2 gene, a c.139C-T transition resulting in an arg47-to-ter (R47X) substitution and a c.173G-A transition resulting in a gly58-to-asp (G58D; <a href="#0004">603564.0004</a>) substitution. The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing. The parents were confirmed to be mutation carriers. Neither mutation was reported in available SNP databases. Patient fibroblasts had reduced DPM2 protein expression compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33129689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu</strong>
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</span>
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</h4>
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DPM2, GLY58ASP
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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> rs1185338798 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1185338798;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/rs1185338798?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=rs1185338798" 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=rs1185338798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001375850" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001375850" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001375850</a>
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</span>
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</div>
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<span class="mim-text-font">
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<p>For discussion of the c.173G-A transition in the DPM2 gene, resulting in a gly58-to-asp (G58D) substitution, that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type Iu (CDG1U; <a href="/entry/615042">615042</a>) by <a href="#6" class="mim-tip-reference" title="Radenkovic, S., Fitzpatrick-Schmidt, T., Byeon S. K., Madugundu, A. K., Saraswat, M., Lichty, A., Wong, S. Y. W., McGee, S., Kubiak, K., Ligezka, A., Ranatunga, W., Zhang, Y., Wood, T., Friez, M. J., Clarkson, K., Pandey, A., Jones, J. R., Morava, E. <strong>Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.</strong> Molec. Genet. Metab. 132: 27-37, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33129689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33129689</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33129689">Radenkovic et al. (2021)</a>, see <a href="#0003">603564.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33129689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Barone2012" class="mim-anchor"></a>
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<div class="">
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Barone, R., Aiello, C., Race, V., Morava, E., Foulquier, F., Riemersma, M., Passarelli, C., Concolino, D., Carella, M., Santorelli, F., Vleugels, W., Mercuri, E., and 9 others.
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<strong>DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.</strong>
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Ann. Neurol. 72: 550-558, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23109149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23109149</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23109149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.23632" target="_blank">Full Text</a>]
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" 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/nature19356" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Maeda2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T.
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<strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong>
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EMBO J. 19: 2475-2482, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10835346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10835346</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10835346[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=10835346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/emboj/19.11.2475" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Maeda1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Maeda, Y., Tomita, S., Watanabe, R., Ohishi, K., Kinoshita, T.
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<strong>DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate.</strong>
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EMBO J. 17: 4920-4929, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9724629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9724629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9724629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/emboj/17.17.4920" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Messina2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Messina, S., Tortorella, G., Concolino, D., Spano, M., D'Amico, A., Bruno, C., Santorelli, F. M., Mercuri, E., Bertini, E.
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<strong>Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.</strong>
|
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Neurology 73: 1599-1601, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19901254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19901254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19901254" 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/10.1212/WNL.0b013e3181c0d47a" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Radenkovic2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Radenkovic, S., Fitzpatrick-Schmidt, T., Byeon S. K., Madugundu, A. K., Saraswat, M., Lichty, A., Wong, S. Y. W., McGee, S., Kubiak, K., Ligezka, A., Ranatunga, W., Zhang, Y., Wood, T., Friez, M. J., Clarkson, K., Pandey, A., Jones, J. R., Morava, E.
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<strong>Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.</strong>
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Molec. Genet. Metab. 132: 27-37, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33129689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33129689</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33129689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2020.10.007" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 04/28/2021
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/16/2017<br>Cassandra L. Kniffin - updated : 1/29/2013<br>Dawn Watkins-Chow - updated : 5/18/2001
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</span>
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</div>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Rebekah S. Rasooly : 2/19/1999
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</span>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/29/2021
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/28/2021<br>carol : 02/26/2021<br>carol : 02/01/2018<br>alopez : 02/16/2017<br>carol : 09/18/2015<br>mcolton : 8/18/2015<br>carol : 9/18/2013<br>tpirozzi : 9/18/2013<br>tpirozzi : 9/17/2013<br>carol : 1/29/2013<br>ckniffin : 1/29/2013<br>terry : 7/26/2006<br>mgross : 5/21/2001<br>terry : 5/18/2001<br>psherman : 2/24/1999<br>psherman : 2/24/1999<br>psherman : 2/19/1999
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</span>
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</div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603564
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 2, REGULATORY SUBUNIT; DPM2
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 2<br />
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DOLICHOL-PHOSPHATE MANNOSE SYNTHASE 2
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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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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DPM2</em></strong>
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</span>
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</p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 782772000;
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</span>
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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: 9q34.11
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:127,935,099-127,937,854 </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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<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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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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9q34.11
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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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Congenital disorder of glycosylation, type Iu
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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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615042
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The DPM2 gene encodes dolichyl-phosphate mannosyltransferase-2, a regulatory subunit of the heterotrimeric dolichol-phosphate-mannose synthase complex (summary by Barone et al., 2012). Dolichol-phosphate mannose (Dol-P-Man) acts as a donor for mannosylation reactions occurring on the luminal side of the endoplasmic reticulum (ER). Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme Dol-P-Man synthase (EC 2.4.1.83) (Maeda et al., 1998). </p>
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<div>
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<br />
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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>Mouse Thy1 (188230)-negative lymphoma mutant cells of complementation class E and Chinese hamster ovary (CHO) Lec15 mutant cells are defective in Dol-P-Man synthesis. Consequently, they do not synthesize glycosylphosphatidylinositol (GPI), whose biosynthesis is dependent on Dol-P-Man, resulting in the defective surface expression of GPI-anchored proteins such as Thy1. The human Dol-P-Man synthase-1 (DPM1; 603503) gene is responsible for the defect of class E cells, but it does not complement the defective Dol-P-Man synthesis in Lec15 cells, indicating that DPM1 is not sufficient for Dol-P-Man synthesis. Maeda et al. (1998) used expression cloning to isolate rat cDNAs that restored GPI anchor synthesis in Lec15 cells. The cDNAs corresponded to a gene that the authors designated Dpm2. By searching an EST database for homologs of rat Dpm2, they identified cDNAs encoding human and mouse DPM2. The deduced 84-amino acid human protein shares 88% sequence identity with rat Dpm2. DPM2 is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. Cell fractionation and immunofluorescence studies indicated that DPM2 is expressed in the ER membrane. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Maeda et al. (1998) found that DPM2 associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1. A lack of ER localization of DPM1 coincided with lowered DPM1 expression in Lec15 cells, suggesting that DPM2-dependent localization of DPM1 to the ER is important for its stability. DPM2 also enhances the binding of dolichol-phosphate to DPM1. Maeda et al. (1998) concluded that the biosynthesis of Dol-P-Man in mammalian cells is regulated by DPM2. </p><p>Maeda et al. (2000) purified human Dol-P-Man synthase and demonstrated that the enzyme is a protein complex with 3 subunits, DPM1, DPM2, and DPM3 (605951). They concluded that DPM2 associates with the N-terminal domain of DPM3 and that this interaction stabilizes DPM3; DPM3, in turn, stabilizes DPM1. Using DPM2-deficient cells, Maeda et al. (2000) demonstrated that DPM2 is not essential for Dol-P-Man synthase activity; however, the presence of DPM2 significantly increases the specific enzymatic activity. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 3 patients from 2 unrelated Sicilian families with congenital disorder of glycosylation type Iu (CDG1U; 615042), Barone et al. (2012) identified homozygous or compound heterozygous mutations in the DPM2 gene (603564.0001 and 603564.0002). DPM synthase activity was severely decreased in patient fibroblasts. The patients had a severe neurologic phenotype with lack of psychomotor development and death in the first years of life. </p><p>In a 23-year-old man with CDG1U, Radenkovic et al. (2021) identified compound heterozygous mutations in the DPM2 gene (603564.0003 and 603564.0004). The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing. Each parent was a carrier of one of the mutations. Patient fibroblasts had reduced DPM2 protein expression compared to controls, as well as decreased DPM1 expression, which is dependent on normal DPM2 and DPM3 expression. Radenkovic et al. (2021) also identified a significant decrease of ICAM1 (147840) protein expression, which suggested abnormal N-linked glycosylation. LAMP2 (309060) expression was also reduced, which was consistent with glycosylation abnormalities. Glycomics analysis in patient fibroblasts was consistent with a CDG type I profile. </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>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human DPM2 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 Selected Examples):</strong>
|
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu</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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DPM2, TYR23CYS
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<br />
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SNP: rs397514503,
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gnomAD: rs397514503,
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ClinVar: RCV000032641
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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 2 brothers, born of consanguineous Sicilian parents, with congenital disorder of glycosylation type Iu (CDG1U; 615042), Barone et al. (2012) identified a homozygous 68A-G transition in exon 1 of the DPM2 gene, resulting in a tyr23-to-cys (Y23C) substitution at a highly conserved residue encoding a transmembrane domain. The mutation was not found in more than 1,600 control exomes. An unrelated patient, also of Sicilian origin, with a similar disorder was compound heterozygous for Y23C and a G-to-C transversion in intron 1 of the DPM2 gene (c.4-1G-C; 603564.0002), resulting in the skipping of exon 2. The brothers were originally reported by Messina et al. (2009). </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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<h4>
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<span class="mim-font">
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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu</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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DPM2, IVS1AS, G-C, -1
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<br />
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SNP: rs797044467,
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ClinVar: RCV000032642
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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>For discussion of the splice site mutation (c.4-1G-C) in the DPM2 gene that was found in compound heterozygous state in a Sicilian patient with congenital disorder of glycosylation type Iu (CDG1U; 615042) by Barone et al. (2012), see 603564.0001. </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>.0003 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu</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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DPM2, ARG47TER
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<br />
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SNP: rs549450795,
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gnomAD: rs549450795,
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ClinVar: RCV001375849
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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 23-year-old man with congenital disorder of glycosylation type Iu (CDG1U; 615042), Radenkovic et al. (2021) identified compound heterozygous mutations in the DPM2 gene, a c.139C-T transition resulting in an arg47-to-ter (R47X) substitution and a c.173G-A transition resulting in a gly58-to-asp (G58D; 603564.0004) substitution. The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing. The parents were confirmed to be mutation carriers. Neither mutation was reported in available SNP databases. Patient fibroblasts had reduced DPM2 protein expression compared to controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu</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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DPM2, GLY58ASP
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<br />
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SNP: rs1185338798,
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gnomAD: rs1185338798,
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ClinVar: RCV001375850
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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>For discussion of the c.173G-A transition in the DPM2 gene, resulting in a gly58-to-asp (G58D) substitution, that was found in compound heterozygous state in a patient with congenital disorder of glycosylation type Iu (CDG1U; 615042) by Radenkovic et al. (2021), see 603564.0003. </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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Barone, R., Aiello, C., Race, V., Morava, E., Foulquier, F., Riemersma, M., Passarelli, C., Concolino, D., Carella, M., Santorelli, F., Vleugels, W., Mercuri, E., and 9 others.
|
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<strong>DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.</strong>
|
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Ann. Neurol. 72: 550-558, 2012.
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[PubMed: 23109149]
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[Full Text: https://doi.org/10.1002/ana.23632]
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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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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
|
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: 27626380]
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[Full Text: https://doi.org/10.1038/nature19356]
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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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Maeda, Y., Tanaka, S., Hino, J., Kangawa, K., Kinoshita, T.
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<strong>Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.</strong>
|
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EMBO J. 19: 2475-2482, 2000.
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[PubMed: 10835346]
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[Full Text: https://doi.org/10.1093/emboj/19.11.2475]
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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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Maeda, Y., Tomita, S., Watanabe, R., Ohishi, K., Kinoshita, T.
|
|
<strong>DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate.</strong>
|
|
EMBO J. 17: 4920-4929, 1998.
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[PubMed: 9724629]
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[Full Text: https://doi.org/10.1093/emboj/17.17.4920]
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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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Messina, S., Tortorella, G., Concolino, D., Spano, M., D'Amico, A., Bruno, C., Santorelli, F. M., Mercuri, E., Bertini, E.
|
|
<strong>Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.</strong>
|
|
Neurology 73: 1599-1601, 2009.
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|
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[PubMed: 19901254]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181c0d47a]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Radenkovic, S., Fitzpatrick-Schmidt, T., Byeon S. K., Madugundu, A. K., Saraswat, M., Lichty, A., Wong, S. Y. W., McGee, S., Kubiak, K., Ligezka, A., Ranatunga, W., Zhang, Y., Wood, T., Friez, M. J., Clarkson, K., Pandey, A., Jones, J. R., Morava, E.
|
|
<strong>Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.</strong>
|
|
Molec. Genet. Metab. 132: 27-37, 2021.
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[PubMed: 33129689]
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[Full Text: https://doi.org/10.1016/j.ymgme.2020.10.007]
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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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Contributors:
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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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Hilary J. Vernon - updated : 04/28/2021<br>Ada Hamosh - updated : 02/16/2017<br>Cassandra L. Kniffin - updated : 1/29/2013<br>Dawn Watkins-Chow - updated : 5/18/2001
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</span>
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Rebekah S. Rasooly : 2/19/1999
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carol : 04/29/2021<br>carol : 04/28/2021<br>carol : 02/26/2021<br>carol : 02/01/2018<br>alopez : 02/16/2017<br>carol : 09/18/2015<br>mcolton : 8/18/2015<br>carol : 9/18/2013<br>tpirozzi : 9/18/2013<br>tpirozzi : 9/17/2013<br>carol : 1/29/2013<br>ckniffin : 1/29/2013<br>terry : 7/26/2006<br>mgross : 5/21/2001<br>terry : 5/18/2001<br>psherman : 2/24/1999<br>psherman : 2/24/1999<br>psherman : 2/19/1999
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