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Entry
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- *601671 - D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 2; DPF2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601671</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601671">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000133884;t=ENST00000528416" 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=5977" 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=601671" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</div>
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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=ENSG00000133884;t=ENST00000528416" 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_001330308,NM_006268,XM_017018101,XR_007062491" 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_006268" 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=601671" 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=03394&isoform_id=03394_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/DPF2" 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/1532125,2121234,2529705,2842711,5454004,15928853,28144169,30582275,119594781,119594782,119594783,158257320,194390216,1034574840,1060099341" 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/Q92785" 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=5977" 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=ENSG00000133884;t=ENST00000528416" 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=DPF2" 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=DPF2" 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+5977" 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/DPF2" 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:5977" 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/5977" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr11&hgg_gene=ENST00000528416.6&hgg_start=65333852&hgg_end=65354262&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:9964" 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=601671[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=601671[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/DPF2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000133884" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=DPF2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=DPF2" 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=DPF2" 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=DPF2&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/PA34331" 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:9964" 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/FBgn0033015.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:109529" 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/DPF2#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:109529" 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/5977/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=5977" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00016200;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041024-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5977" 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=DPF2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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601671
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 2; DPF2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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REQUIEM, APOPTOSIS RESPONSE ZINC FINGER GENE; REQ<br />
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UBI-D4/REQUIEM HOMOLOG; UBID4
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DPF2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DPF2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/11/588?start=-3&limit=10&highlight=588">11q13.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:65333852-65354262&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:65,333,852-65,354,262</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/11/588?start=-3&limit=10&highlight=588">
|
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11q13.1
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Coffin-Siris syndrome 7
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/618027"> 618027 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/601671" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/601671" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<p>The DPF2 gene encodes a noncatalytic subunit of the BAF chromatin-remodeling complex and plays a role in the epigenetic regulation of transcription through the identification of histone modifications (see, e.g., SMARCA4, BRG1, <a href="/entry/603254">603254</a>) (summary by <a href="#4" class="mim-tip-reference" title="Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Buttner, C., Ekici, A. B., Gerard, M., Bramswig, N. C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., and 18 others. <strong>Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.</strong> Am. J. Hum. Genet. 102: 468-479, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29429572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29429572</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.01.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29429572">Vasileiou et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29429572" 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="#1" class="mim-tip-reference" title="Chestkov, A. V., Baka, I. D., Kost, M. V., Georgiev, G. P., Buchman, V. L. <strong>The d4 gene family in the human genome.</strong> Genomics 36: 174-177, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8812431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8812431</a>] [<a href="https://doi.org/10.1006/geno.1996.0440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8812431">Chestkov et al. (1996)</a> described a conserved human gene homologous to Neuro-d4 (DPF1; <a href="/entry/601670">601670</a>) that they designated Ubi-d4. The human protein is the apparent homolog of the mouse Ubi-d4 protein, also known as Requiem (<a href="#3" class="mim-tip-reference" title="Gabig, T. G., Mantel, P. L., Rosli, R., Crean, C. D. <strong>Requiem: a novel zinc finger gene essential for apoptosis in myeloid cells.</strong> J. Biol. Chem. 269: 29515-29519, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7961935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7961935</a>]" pmid="7961935">Gabig et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7961935+8812431" 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>Apoptosis in murine myeloid cell lines requires expression of the Requiem gene, which encodes a putative zinc finger protein. A large consortium (<a href="#2" class="mim-tip-reference" title="Gabig, T. G., Crean, C. D., Klenk, A., Long, H., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Quincey, D., Parente, F., Lespinasse, F., Carle, G. F., Gaudray, P., and 13 others. <strong>Expression and chromosomal localization of the Requiem gene.</strong> Mammalian Genome 9: 660-665, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9680388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9680388</a>] [<a href="https://doi.org/10.1007/s003359900840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9680388">Gabig et al., 1998</a>) consisting of 3 groups detected the protein in both cytoplasmic and nuclear subcellular fractions of murine myeloid cells and human K562 leukemia cells, suggesting that the protein may have a function distinct from that of a transcription factor. The distribution did not alter upon apoptosis induction by IL3 deprivation. The gene was expressed in various tissues in early gestational ages; however, expression was confined to testis, spleen, thymus, and part of the hippocampus in the adult mouse. The expression profile was considered consistent with a functional role during rapid growth and cell turnover, and again suggested a regulatory function for hematopoietic cells. The nucleotide sequence of the human cDNA is 73% identical overall to that of the murine cDNA. The human sequence encodes a 391-amino acid protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9680388" 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>Expression of Ubi-d4/requiem appeared to be required for apoptosis (<a href="#1" class="mim-tip-reference" title="Chestkov, A. V., Baka, I. D., Kost, M. V., Georgiev, G. P., Buchman, V. L. <strong>The d4 gene family in the human genome.</strong> Genomics 36: 174-177, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8812431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8812431</a>] [<a href="https://doi.org/10.1006/geno.1996.0440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8812431">Chestkov et al., 1996</a>; <a href="#3" class="mim-tip-reference" title="Gabig, T. G., Mantel, P. L., Rosli, R., Crean, C. D. <strong>Requiem: a novel zinc finger gene essential for apoptosis in myeloid cells.</strong> J. Biol. Chem. 269: 29515-29519, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7961935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7961935</a>]" pmid="7961935">Gabig et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7961935+8812431" 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="#1" class="mim-tip-reference" title="Chestkov, A. V., Baka, I. D., Kost, M. V., Georgiev, G. P., Buchman, V. L. <strong>The d4 gene family in the human genome.</strong> Genomics 36: 174-177, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8812431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8812431</a>] [<a href="https://doi.org/10.1006/geno.1996.0440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8812431">Chestkov et al. (1996)</a> mapped the DPF2 gene to chromosome 11q13 by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8812431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By cohybridization fluorescence in situ hybridization on extended DNA fibers, <a href="#2" class="mim-tip-reference" title="Gabig, T. G., Crean, C. D., Klenk, A., Long, H., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Quincey, D., Parente, F., Lespinasse, F., Carle, G. F., Gaudray, P., and 13 others. <strong>Expression and chromosomal localization of the Requiem gene.</strong> Mammalian Genome 9: 660-665, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9680388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9680388</a>] [<a href="https://doi.org/10.1007/s003359900840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9680388">Gabig et al. (1998)</a> mapped the REQ gene between MLK3 (<a href="/entry/600050">600050</a>) and FAU (<a href="/entry/134690">134690</a>), which had been mapped to 11q13, telomeric to PYGM (<a href="/entry/608455">608455</a>). The physical distance between MLK3 and REQ was estimated to be 150 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9680388" 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 8 unrelated patients with Coffin-Siris syndrome-7 (CSS7; <a href="/entry/618027">618027</a>), <a href="#4" class="mim-tip-reference" title="Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Buttner, C., Ekici, A. B., Gerard, M., Bramswig, N. C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., and 18 others. <strong>Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.</strong> Am. J. Hum. Genet. 102: 468-479, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29429572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29429572</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.01.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29429572">Vasileiou et al. (2018)</a> identified 8 different de novo heterozygous mutations in the DPF2 gene (see, e.g., <a href="#0001">601671.0001</a>-<a href="#0005">601671.0005</a>). There were 5 missense mutations, 2 splice site mutations, and 1 frameshift mutation. The missense mutations affected highly conserved residues in the PHD1 or PHD2 finger domains, which are responsible for the recognition of histone modifications. The mutations were close to zinc binding sites, most likely disrupting these sites and the protein structure. In vitro functional expression studies of 3 of the missense mutations (C276F, <a href="#0001">601671.0001</a>; C330W, <a href="#0002">601671.0002</a>; and R350H, <a href="#0003">601671.0003</a>) showed that they resulted in abolished or strongly attenuated binding to certain modified and unmodified H3 histone tails. In addition, expression of the mutations in HEK293 and COS-7 cells resulted in the formation of abnormal aggregate-like structures in the nucleus when expressed alone, and recruited wildtype DPF2 and BRG1 to the aggregates with coexpressed with those wildtype proteins. Theses findings were consistent with a dominant-negative pathomechanism. Analysis of the 2 splice site mutations and the frameshift mutation suggested that they escape nonsense-mediated mRNA decay, thus precluding haploinsufficiency and also supporting a dominant-negative mechanism. The patients were ascertained from large cohorts of patients with developmental disabilities and through web-based matching programs and collaboration. Six of the patients had additional rare single-nucleotide variants or copy number variants affecting other genes, which were not considered to affect the phenotype. <a href="#4" class="mim-tip-reference" title="Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Buttner, C., Ekici, A. B., Gerard, M., Bramswig, N. C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., and 18 others. <strong>Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.</strong> Am. J. Hum. Genet. 102: 468-479, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29429572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29429572</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.01.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29429572">Vasileiou et al. (2018)</a> suggested that the mutations in nucleosome-targeting modules of the DPF2 gene disrupt PHD finger functional cohesion and capacity to recognize H3 histone modifications, leading to misreading from the BAF complex and epigenetic deregulation of gene transcription. The findings confirmed a crucial role of PHD-finger-containing proteins in human neurodevelopmental disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29429572" 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=601671[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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555031372 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555031372;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=rs1555031372" 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=rs1555031372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 10-year-old boy (individual 1) with Coffin-Siris syndrome-7 (CSS7; <a href="/entry/618027">618027</a>), <a href="#4" class="mim-tip-reference" title="Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Buttner, C., Ekici, A. B., Gerard, M., Bramswig, N. C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., and 18 others. <strong>Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.</strong> Am. J. Hum. Genet. 102: 468-479, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29429572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29429572</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.01.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29429572">Vasileiou et al. (2018)</a> identified a de novo heterozygous c.827G-T transversion (c.827G-T, NM_006268.4) in exon 8 of the DPF2 gene, resulting in a cys276-to-phe (C276F) substitution at a highly conserved residue in the PHD1 finger domain. The mutation, which was found by exome sequencing, was not found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29429572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555031500 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555031500;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=rs1555031500" 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=rs1555031500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000656718" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000656718" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000656718</a>
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<p>In a 16-year-old girl (individual 2) with Coffin-Siris syndrome-7 (CSS7; <a href="/entry/618027">618027</a>), <a href="#4" class="mim-tip-reference" title="Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Buttner, C., Ekici, A. B., Gerard, M., Bramswig, N. C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., and 18 others. <strong>Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.</strong> Am. J. Hum. Genet. 102: 468-479, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29429572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29429572</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.01.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29429572">Vasileiou et al. (2018)</a> identified a de novo heterozygous c.990C-G transversion (c.990C-G, NM_006268.4) in exon 9 of the DPF2 gene, resulting in a cys330-to-trp (C330W) substitution at a highly conserved residue in the PHD2 finger domain. The mutation, which was found by exome sequencing, was not found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29429572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555032051 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555032051;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=rs1555032051" 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=rs1555032051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000656719 OR RCV001265686" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000656719, RCV001265686" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000656719...</a>
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<p>In an 18.5-year-old girl (individual 3) with Coffin-Siris syndrome-7 (CSS7; <a href="/entry/618027">618027</a>), <a href="#4" class="mim-tip-reference" title="Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Buttner, C., Ekici, A. B., Gerard, M., Bramswig, N. C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., and 18 others. <strong>Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.</strong> Am. J. Hum. Genet. 102: 468-479, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29429572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29429572</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.01.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29429572">Vasileiou et al. (2018)</a> identified a de novo heterozygous c.1049G-A transition (c.1049G-A, NM_006268.4) in exon 10 of the DPF2 gene, resulting in an arg350-to-his (R350H) substitution at a highly conserved residue in the PHD2 finger domain. The mutation, which was found by exome sequencing, was not found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29429572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 COFFIN-SIRIS SYNDROME 7</strong>
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DPF2, ASP346GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555032044 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555032044;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=rs1555032044" 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=rs1555032044" 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=RCV000656720" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000656720" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000656720</a>
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<p>In a boy (individual 4, DDDP126054) with Coffin-Siris syndrome-7 (CSS7; <a href="/entry/618027">618027</a>), <a href="#4" class="mim-tip-reference" title="Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Buttner, C., Ekici, A. B., Gerard, M., Bramswig, N. C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., and 18 others. <strong>Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.</strong> Am. J. Hum. Genet. 102: 468-479, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29429572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29429572</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.01.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29429572">Vasileiou et al. (2018)</a> identified a de novo heterozygous c.1037A-G transition (c.1037A-G, NM_006268.4) in exon 10 of the DPF2 gene, resulting in an asp346-to-gly (D346G) substitution at a highly conserved residue in the PHD2 finger domain. The mutation, which was found by exome sequencing, was not found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29429572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 COFFIN-SIRIS SYNDROME 7</strong>
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DPF2, IVS10DS, G-A, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555032074 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555032074;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=rs1555032074" 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=rs1555032074" 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=RCV000656721" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000656721" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000656721</a>
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<p>In a 7-year-old girl (individual 7) with Coffin-Siris syndrome-7 (CSS7; <a href="/entry/618027">618027</a>), <a href="#4" class="mim-tip-reference" title="Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Buttner, C., Ekici, A. B., Gerard, M., Bramswig, N. C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., and 18 others. <strong>Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.</strong> Am. J. Hum. Genet. 102: 468-479, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29429572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29429572</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.01.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29429572">Vasileiou et al. (2018)</a> identified a de novo heterozygous G-to-A transition (c.1099+1G-A, NM_006268.4) in intron 10 of the DPF2 gene, resulting in the skipping of exon 10, a frameshift, and premature termination (Asp340GlufsTer12). The mutation, which was found by exome sequencing, was not found in the gnomAD database. Analysis of patient cells showed that the mutation escaped nonsense-mediated mRNA decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29429572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Chestkov1996" class="mim-anchor"></a>
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Chestkov, A. V., Baka, I. D., Kost, M. V., Georgiev, G. P., Buchman, V. L.
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<strong>The d4 gene family in the human genome.</strong>
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Genomics 36: 174-177, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8812431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8812431</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8812431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1996.0440" target="_blank">Full Text</a>]
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Gabig, T. G., Crean, C. D., Klenk, A., Long, H., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Quincey, D., Parente, F., Lespinasse, F., Carle, G. F., Gaudray, P., and 13 others.
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<strong>Expression and chromosomal localization of the Requiem gene.</strong>
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Mammalian Genome 9: 660-665, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9680388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9680388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9680388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s003359900840" target="_blank">Full Text</a>]
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Gabig, T. G., Mantel, P. L., Rosli, R., Crean, C. D.
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<strong>Requiem: a novel zinc finger gene essential for apoptosis in myeloid cells.</strong>
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J. Biol. Chem. 269: 29515-29519, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7961935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7961935</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7961935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Vasileiou2018" class="mim-anchor"></a>
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Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Buttner, C., Ekici, A. B., Gerard, M., Bramswig, N. C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., and 18 others.
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<strong>Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.</strong>
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Am. J. Hum. Genet. 102: 468-479, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29429572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29429572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29429572" 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.ajhg.2018.01.014" target="_blank">Full Text</a>]
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 06/27/2018
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</span>
|
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</div>
|
|
</div>
|
|
<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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Victor A. McKusick - updated : 9/2/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Alan F. Scott : 2/7/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" 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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<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 : 06/28/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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ckniffin : 06/27/2018<br>mgross : 11/20/2008<br>mgross : 11/20/2008<br>carol : 3/9/2004<br>alopez : 9/8/1998<br>terry : 9/2/1998<br>terry : 9/2/1998<br>mark : 5/16/1997<br>mark : 2/19/1997<br>jenny : 2/11/1997<br>jenny : 2/7/1997
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 601671
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 2; DPF2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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REQUIEM, APOPTOSIS RESPONSE ZINC FINGER GENE; REQ<br />
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UBI-D4/REQUIEM HOMOLOG; UBID4
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DPF2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 11q13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:65,333,852-65,354,262 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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|
11q13.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Coffin-Siris syndrome 7
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
618027
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>The DPF2 gene encodes a noncatalytic subunit of the BAF chromatin-remodeling complex and plays a role in the epigenetic regulation of transcription through the identification of histone modifications (see, e.g., SMARCA4, BRG1, 603254) (summary by Vasileiou et al., 2018). </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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|
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|
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Chestkov et al. (1996) described a conserved human gene homologous to Neuro-d4 (DPF1; 601670) that they designated Ubi-d4. The human protein is the apparent homolog of the mouse Ubi-d4 protein, also known as Requiem (Gabig et al., 1994). </p><p>Apoptosis in murine myeloid cell lines requires expression of the Requiem gene, which encodes a putative zinc finger protein. A large consortium (Gabig et al., 1998) consisting of 3 groups detected the protein in both cytoplasmic and nuclear subcellular fractions of murine myeloid cells and human K562 leukemia cells, suggesting that the protein may have a function distinct from that of a transcription factor. The distribution did not alter upon apoptosis induction by IL3 deprivation. The gene was expressed in various tissues in early gestational ages; however, expression was confined to testis, spleen, thymus, and part of the hippocampus in the adult mouse. The expression profile was considered consistent with a functional role during rapid growth and cell turnover, and again suggested a regulatory function for hematopoietic cells. The nucleotide sequence of the human cDNA is 73% identical overall to that of the murine cDNA. The human sequence encodes a 391-amino acid protein. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Expression of Ubi-d4/requiem appeared to be required for apoptosis (Chestkov et al., 1996; Gabig et al., 1994). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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<span class="mim-text-font">
|
|
<p>Chestkov et al. (1996) mapped the DPF2 gene to chromosome 11q13 by fluorescence in situ hybridization. </p><p>By cohybridization fluorescence in situ hybridization on extended DNA fibers, Gabig et al. (1998) mapped the REQ gene between MLK3 (600050) and FAU (134690), which had been mapped to 11q13, telomeric to PYGM (608455). The physical distance between MLK3 and REQ was estimated to be 150 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 8 unrelated patients with Coffin-Siris syndrome-7 (CSS7; 618027), Vasileiou et al. (2018) identified 8 different de novo heterozygous mutations in the DPF2 gene (see, e.g., 601671.0001-601671.0005). There were 5 missense mutations, 2 splice site mutations, and 1 frameshift mutation. The missense mutations affected highly conserved residues in the PHD1 or PHD2 finger domains, which are responsible for the recognition of histone modifications. The mutations were close to zinc binding sites, most likely disrupting these sites and the protein structure. In vitro functional expression studies of 3 of the missense mutations (C276F, 601671.0001; C330W, 601671.0002; and R350H, 601671.0003) showed that they resulted in abolished or strongly attenuated binding to certain modified and unmodified H3 histone tails. In addition, expression of the mutations in HEK293 and COS-7 cells resulted in the formation of abnormal aggregate-like structures in the nucleus when expressed alone, and recruited wildtype DPF2 and BRG1 to the aggregates with coexpressed with those wildtype proteins. Theses findings were consistent with a dominant-negative pathomechanism. Analysis of the 2 splice site mutations and the frameshift mutation suggested that they escape nonsense-mediated mRNA decay, thus precluding haploinsufficiency and also supporting a dominant-negative mechanism. The patients were ascertained from large cohorts of patients with developmental disabilities and through web-based matching programs and collaboration. Six of the patients had additional rare single-nucleotide variants or copy number variants affecting other genes, which were not considered to affect the phenotype. Vasileiou et al. (2018) suggested that the mutations in nucleosome-targeting modules of the DPF2 gene disrupt PHD finger functional cohesion and capacity to recognize H3 histone modifications, leading to misreading from the BAF complex and epigenetic deregulation of gene transcription. The findings confirmed a crucial role of PHD-finger-containing proteins in human neurodevelopmental disorders. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 COFFIN-SIRIS SYNDROME 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPF2, CYS276PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1555031372,
|
|
|
|
|
|
|
|
ClinVar: RCV000656717, RCV000664329
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 10-year-old boy (individual 1) with Coffin-Siris syndrome-7 (CSS7; 618027), Vasileiou et al. (2018) identified a de novo heterozygous c.827G-T transversion (c.827G-T, NM_006268.4) in exon 8 of the DPF2 gene, resulting in a cys276-to-phe (C276F) substitution at a highly conserved residue in the PHD1 finger domain. The mutation, which was found by exome sequencing, was not found in the gnomAD database. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 COFFIN-SIRIS SYNDROME 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPF2, CYS330TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1555031500,
|
|
|
|
|
|
|
|
ClinVar: RCV000656718
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 16-year-old girl (individual 2) with Coffin-Siris syndrome-7 (CSS7; 618027), Vasileiou et al. (2018) identified a de novo heterozygous c.990C-G transversion (c.990C-G, NM_006268.4) in exon 9 of the DPF2 gene, resulting in a cys330-to-trp (C330W) substitution at a highly conserved residue in the PHD2 finger domain. The mutation, which was found by exome sequencing, was not found in the gnomAD database. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 COFFIN-SIRIS SYNDROME 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DPF2, ARG350HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1555032051,
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|
|
|
|
|
|
|
ClinVar: RCV000656719, RCV001265686
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 18.5-year-old girl (individual 3) with Coffin-Siris syndrome-7 (CSS7; 618027), Vasileiou et al. (2018) identified a de novo heterozygous c.1049G-A transition (c.1049G-A, NM_006268.4) in exon 10 of the DPF2 gene, resulting in an arg350-to-his (R350H) substitution at a highly conserved residue in the PHD2 finger domain. The mutation, which was found by exome sequencing, was not found in the gnomAD database. </p>
|
|
</span>
|
|
</div>
|
|
|
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<div>
|
|
<br />
|
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</div>
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|
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</div>
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<div>
|
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|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 COFFIN-SIRIS SYNDROME 7</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
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<div>
|
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<span class="mim-text-font">
|
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DPF2, ASP346GLY
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|
|
|
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<br />
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|
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SNP: rs1555032044,
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|
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ClinVar: RCV000656720
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</span>
|
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</div>
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy (individual 4, DDDP126054) with Coffin-Siris syndrome-7 (CSS7; 618027), Vasileiou et al. (2018) identified a de novo heterozygous c.1037A-G transition (c.1037A-G, NM_006268.4) in exon 10 of the DPF2 gene, resulting in an asp346-to-gly (D346G) substitution at a highly conserved residue in the PHD2 finger domain. The mutation, which was found by exome sequencing, was not found in the gnomAD database. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
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<div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 COFFIN-SIRIS SYNDROME 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
|
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DPF2, IVS10DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1555032074,
|
|
|
|
|
|
|
|
ClinVar: RCV000656721
|
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<p>In a 7-year-old girl (individual 7) with Coffin-Siris syndrome-7 (CSS7; 618027), Vasileiou et al. (2018) identified a de novo heterozygous G-to-A transition (c.1099+1G-A, NM_006268.4) in intron 10 of the DPF2 gene, resulting in the skipping of exon 10, a frameshift, and premature termination (Asp340GlufsTer12). The mutation, which was found by exome sequencing, was not found in the gnomAD database. Analysis of patient cells showed that the mutation escaped nonsense-mediated mRNA decay. </p>
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<strong>REFERENCES</strong>
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Chestkov, A. V., Baka, I. D., Kost, M. V., Georgiev, G. P., Buchman, V. L.
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<strong>The d4 gene family in the human genome.</strong>
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Genomics 36: 174-177, 1996.
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[PubMed: 8812431]
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[Full Text: https://doi.org/10.1006/geno.1996.0440]
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Gabig, T. G., Crean, C. D., Klenk, A., Long, H., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Quincey, D., Parente, F., Lespinasse, F., Carle, G. F., Gaudray, P., and 13 others.
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<strong>Expression and chromosomal localization of the Requiem gene.</strong>
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Mammalian Genome 9: 660-665, 1998.
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[PubMed: 9680388]
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[Full Text: https://doi.org/10.1007/s003359900840]
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</li>
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Gabig, T. G., Mantel, P. L., Rosli, R., Crean, C. D.
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<strong>Requiem: a novel zinc finger gene essential for apoptosis in myeloid cells.</strong>
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J. Biol. Chem. 269: 29515-29519, 1994.
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[PubMed: 7961935]
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Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Buttner, C., Ekici, A. B., Gerard, M., Bramswig, N. C., Albrecht, B., Clayton-Smith, J., Morton, J., Tomkins, S., and 18 others.
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<strong>Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.</strong>
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Am. J. Hum. Genet. 102: 468-479, 2018.
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[PubMed: 29429572]
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[Full Text: https://doi.org/10.1016/j.ajhg.2018.01.014]
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Cassandra L. Kniffin - updated : 06/27/2018<br>Victor A. McKusick - updated : 9/2/1998
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