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Entry
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- *607137 - HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D-LIKE PROTEIN; HNRNPDL
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- OMIM
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<p>
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<span class="h4">*607137</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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<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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607137">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000152795;t=ENST00000295470" 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=9987" 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=607137" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000152795;t=ENST00000295470" 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_001207000,NM_031372,NR_003249" 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_031372" 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=607137" 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=06185&isoform_id=06185_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/HNRNPDL" 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/2547076,2780748,4512254,4512255,4512257,14110407,15010818,15079822,38327502,39644771,47115183,47938369,63990763,74762096,119626290,119626291,119626292,119626293,119626294,119626295,119626296,194378188,194390304,259465652,300639614,332801090" 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/O14979" 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=9987" 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=ENSG00000152795;t=ENST00000295470" 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=HNRNPDL" 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=HNRNPDL" 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+9987" 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/HNRNPDL" 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:9987" 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/9987" 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=chr4&hgg_gene=ENST00000295470.10&hgg_start=82422564&hgg_end=82430462&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:5037" 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=607137[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=607137[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000152795" 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=HNRNPDL" 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=HNRNPDL" 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=HNRNPDL" 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=HNRNPDL&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/PA29362" 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:5037" 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/FBgn0263396.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:1355299" 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/HNRNPDL#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:1355299" 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/9987/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=9987" 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=WBGene00022235;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-040426-2717" 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://reactome.org/content/query?q=HNRNPDL&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 719990003<br />
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">ICD+</a>
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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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607137
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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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HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D-LIKE PROTEIN; HNRNPDL
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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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HNRPDL<br />
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HNRPD-LIKE PROTEIN<br />
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AU-RICH ELEMENT RNA-BINDING FACTOR<br />
|
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JKTBP
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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=HNRNPDL" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HNRNPDL</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/4/363?start=-3&limit=10&highlight=363">4q21.22</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:82422564-82430462&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'})">4:82,422,564-82,430,462</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/4/363?start=-3&limit=10&highlight=363">
|
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4q21.22
|
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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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Muscular dystrophy, limb-girdle, autosomal dominant 3
|
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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/609115"> 609115 </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;">
|
|
<li><a href="/graph/linear/607137" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/607137" 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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<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>Heterogeneous nuclear ribonucleoproteins (HNRNPs) form protein particles that bind to pre-mRNA and function in splicing and nuclear export. For further background information on HNRNPs, see HNRNPD (<a href="/entry/601324">601324</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Doi, A., Shiosaka, T., Takaoka, Y., Yanagisawa, K., Fujita, S. <strong>Molecular cloning of the cDNA encoding A+U-rich element RNA binding factor.</strong> Biochim. Biophys. Acta 1396: 51-56, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9524220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9524220</a>] [<a href="https://doi.org/10.1016/s0167-4781(97)00223-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9524220">Doi et al. (1998)</a> identified HNRPDL, which they called laAUF1, by differential display of leukemia cell clones showing differentiated and undifferentiated phenotypes. By screening the undifferentiated cell library and using 3-prime RACE, they obtained a cDNA encoding a deduced 271-amino acid protein containing a tyrosine phosphorylation site, 2 AU-rich element (ARE) RNA-binding motifs, and a C-terminal gln-rich motif. HNRPDL shares 73% homology with AUF1 (HNRPD) in the sequence containing the RNA-binding motifs and the gln-rich motif. Northern blot analysis revealed transcripts of approximately 1.5 and 2.4 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9524220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using an oligodeoxynucleotide, termed JKT41, corresponding to the intron 9 cis-acting element of the myeloperoxidase gene (MPO; <a href="/entry/606989">606989</a>) to screen an erythroleukemia cDNA expression library, <a href="#5" class="mim-tip-reference" title="Tsuchiya, N., Kamei, D., Takano, A., Matsui, T., Yamada, M. <strong>Cloning and characterization of a cDNA encoding a novel heterogeneous nuclear ribonucleoprotein-like protein and its expression in myeloid leukemia cells.</strong> J. Biochem. 123: 499-507, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9538234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9538234</a>] [<a href="https://doi.org/10.1093/oxfordjournals.jbchem.a021964" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9538234">Tsuchiya et al. (1998)</a> isolated a cDNA encoding HNRPDL, which they called JKT41-binding protein, or JKTBP. The predicted HNRPDL protein contains 302 amino acids. Northern blot analysis revealed mRNAs of approximately 1.4 and 2.8 kb expressed by most cultured cells examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9538234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Kamei, D., Tsuchiya, N., Yamazaki, M., Meguro, H., Yamada, M. <strong>Two forms of expression and genomic structure of the human heterogeneous nuclear ribonucleoprotein D-like JKTBP gene (HNRPDL).</strong> Gene 228: 13-22, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072754</a>] [<a href="https://doi.org/10.1016/s0378-1119(99)00020-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10072754">Kamei et al. (1999)</a> identified 2 isoforms of HNRPDL, which they called JKTBP1 and JKTBP2, corresponding to the 1.4- and 2.8-kb transcripts identified by <a href="#5" class="mim-tip-reference" title="Tsuchiya, N., Kamei, D., Takano, A., Matsui, T., Yamada, M. <strong>Cloning and characterization of a cDNA encoding a novel heterogeneous nuclear ribonucleoprotein-like protein and its expression in myeloid leukemia cells.</strong> J. Biochem. 123: 499-507, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9538234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9538234</a>] [<a href="https://doi.org/10.1093/oxfordjournals.jbchem.a021964" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9538234">Tsuchiya et al. (1998)</a>, respectively. The larger transcript predicts a 420-amino acid protein with a calculated molecular mass of approximately 46.4 kD. The JKTBP2 protein has a longer N terminus, and both proteins contain multiple potential sites for phosphorylation and arginine methylation. Northern blot analysis showed that both transcripts were expressed in all tissues examined, although the amounts and ratios of the transcripts varied in different tissues. Three JKTBP transcripts greater than 2.8 kb were expressed in pancreas, spleen, and thymus. Western blot analysis of myeloid leukemia cells showed proteins of 38 and 53 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9538234+10072754" 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="Doi, A., Shiosaka, T., Takaoka, Y., Yanagisawa, K., Fujita, S. <strong>Molecular cloning of the cDNA encoding A+U-rich element RNA binding factor.</strong> Biochim. Biophys. Acta 1396: 51-56, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9524220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9524220</a>] [<a href="https://doi.org/10.1016/s0167-4781(97)00223-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9524220">Doi et al. (1998)</a> determined that HNRPDL expression was downregulated in leukemia cells following induction to proliferate with interleukin-4 (IL4; <a href="/entry/147780">147780</a>) and following induction to differentiate with the phorbol ester TPA. They also found that a recombinant HNRPDL fusion protein had relatively high affinity for substrate with FOS (<a href="/entry/164810">164810</a>) and MYC (<a href="/entry/190080">190080</a>) AREs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9524220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Tsuchiya, N., Kamei, D., Takano, A., Matsui, T., Yamada, M. <strong>Cloning and characterization of a cDNA encoding a novel heterogeneous nuclear ribonucleoprotein-like protein and its expression in myeloid leukemia cells.</strong> J. Biochem. 123: 499-507, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9538234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9538234</a>] [<a href="https://doi.org/10.1093/oxfordjournals.jbchem.a021964" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9538234">Tsuchiya et al. (1998)</a> determined that recombinant HNRPDL interacted with both the double- and single-stranded forms of JKT41, an oligodeoxynucleotide corresponding to the cis-acting element in intron 9 of the MPO gene. Recombinant HNRPDL also interacted with poly(G) and poly(A), but not with poly(U) or poly(C). Transient expression of HNRPDL repressed expression of reporter genes located downstream of the intron 9 element of JKT41 or the intron 7 element of FERE27, another oligodeoxynucleotide corresponding to MPO. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9538234" 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="#3" class="mim-tip-reference" title="Kamei, D., Tsuchiya, N., Yamazaki, M., Meguro, H., Yamada, M. <strong>Two forms of expression and genomic structure of the human heterogeneous nuclear ribonucleoprotein D-like JKTBP gene (HNRPDL).</strong> Gene 228: 13-22, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072754</a>] [<a href="https://doi.org/10.1016/s0378-1119(99)00020-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10072754">Kamei et al. (1999)</a> determined that the HNRNPDL gene contains 9 exons and spans approximately 5.6 kb. The 5-prime flanking region shows 66% CG content and 8 SP1 (<a href="/entry/189906">189906</a>)-binding sites, but no CAAT or TATA boxes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10072754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By FISH, <a href="#3" class="mim-tip-reference" title="Kamei, D., Tsuchiya, N., Yamazaki, M., Meguro, H., Yamada, M. <strong>Two forms of expression and genomic structure of the human heterogeneous nuclear ribonucleoprotein D-like JKTBP gene (HNRPDL).</strong> Gene 228: 13-22, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072754</a>] [<a href="https://doi.org/10.1016/s0378-1119(99)00020-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10072754">Kamei et al. (1999)</a> mapped the HNRNPDL gene to chromosome 4q13-q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10072754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 8/29/2014."None>Gross (2014)</a> mapped the HNRNPDL gene to chromosome 4q21.22 based on an alignment of the HNRNPDL sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC011714" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC011714</a>) with the genomic sequence (GRCh38).</p>
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<p>In affected members of a Brazilian family and a Uruguayan family with autosomal dominant limb-girdle muscular dystrophy-3 (LGMDD3; <a href="/entry/609115">609115</a>), earlier symbolized LGMD1G, <a href="#6" class="mim-tip-reference" title="Vieira, N. M., Naslavsky, M. S., Licinio, L., Kok, F., Schlesinger, D., Vainzof, M., Sanchez, N., Kitajima, J. P., Gal, L., Cavacana, N., Serafini, P. R., Chuartzman, S., Vasquez, C., Mimbacas, A., Nigro, V., Pavanello, R. C., Schuldiner, M., Kunkel, L. M., Zatz, M. <strong>A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).</strong> Hum. Molec. Genet. 23: 4103-4110, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24647604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24647604</a>] [<a href="https://doi.org/10.1093/hmg/ddu127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24647604">Vieira et al. (2014)</a> identified different heterozygous missense mutations affecting the same codon in the HNRNPDL gene (D378N, <a href="#0001">607137.0001</a> and D378H, <a href="#0002">607137.0002</a>, respectively). The mutations were found using a combination of linkage analysis and whole-genome sequencing. Functional studies of the variants were not performed. Loss of the yeast homolog hrp1 had pronounced effects on both protein levels and cell localizations, demonstrating that its loss was detrimental to cell physiology. The loss of Hrp1 on the yeast proteome revealed dramatic reorganization of proteins involved in RNA-processing pathways. Skeletal muscle biopsy from a Brazilian patient with severe disease showed a clear myopathic pattern with necrotic fibers and rimmed vacuoles, as well as some neurogenic involvement, as evidenced by small angulated fibers, predominance of type II fibers, and fiber-type grouping. Immunohistochemical studies showed higher variability in nuclear labeling of HNRNPDL compared to controls, with some nuclei showing a strong condensed signal and others showing a diffuse pattern around the nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24647604" 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="#6" class="mim-tip-reference" title="Vieira, N. M., Naslavsky, M. S., Licinio, L., Kok, F., Schlesinger, D., Vainzof, M., Sanchez, N., Kitajima, J. P., Gal, L., Cavacana, N., Serafini, P. R., Chuartzman, S., Vasquez, C., Mimbacas, A., Nigro, V., Pavanello, R. C., Schuldiner, M., Kunkel, L. M., Zatz, M. <strong>A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).</strong> Hum. Molec. Genet. 23: 4103-4110, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24647604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24647604</a>] [<a href="https://doi.org/10.1093/hmg/ddu127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24647604">Vieira et al. (2014)</a> found that morpholino knockdown of hnrpdl in zebrafish resulted in body shape defects and twisted tails, as well as restricted movement and uncoordination, consistent with a myopathy. Myofibers isolated from mutant zebrafish were disorganized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24647604" 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">rs587777669 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777669;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=rs587777669" 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=rs587777669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a large Brazilian kindred with autosomal dominant limb-girdle muscular dystrophy type 1G (LGMDD3; <a href="/entry/609115">609115</a>), originally reported by <a href="#4" class="mim-tip-reference" title="Starling, A., Kok, F., Passos-Bueno, M. R., Vainzof, M., Zatz, M. <strong>A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.</strong> Europ. J. Hum. Genet. 12: 1033-1040, 2004. Note: Erratum: Europ. J. Hum. Genet. 13: 264 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15367920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15367920</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15367920">Starling et al. (2004)</a>, <a href="#6" class="mim-tip-reference" title="Vieira, N. M., Naslavsky, M. S., Licinio, L., Kok, F., Schlesinger, D., Vainzof, M., Sanchez, N., Kitajima, J. P., Gal, L., Cavacana, N., Serafini, P. R., Chuartzman, S., Vasquez, C., Mimbacas, A., Nigro, V., Pavanello, R. C., Schuldiner, M., Kunkel, L. M., Zatz, M. <strong>A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).</strong> Hum. Molec. Genet. 23: 4103-4110, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24647604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24647604</a>] [<a href="https://doi.org/10.1093/hmg/ddu127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24647604">Vieira et al. (2014)</a> identified a heterozygous c.1667G-A transition in exon 6 of the HNRNPDL gene, resulting in an asp378-to-asn (D378N) substitution at a highly conserved residue. The mutation, which was found by a combination of linkage analysis and whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was filtered against the 1000 Genomes Project and Exome Sequencing Project databases and was not present in 604 Brazilian controls. A mutation at the same residue (D378H; <a href="#0002">607137.0002</a>) was found in another family with the disorder. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15367920+24647604" 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">rs587777669 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777669;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=rs587777669" 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=rs587777669" 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=RCV000133586 OR RCV003317098 OR RCV004586566" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000133586, RCV003317098, RCV004586566" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000133586...</a>
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<p>In affected members of a large Uruguayan family with autosomal dominant limb-girdle muscular dystrophy type 1G (LGMDD3; <a href="/entry/609115">609115</a>), <a href="#6" class="mim-tip-reference" title="Vieira, N. M., Naslavsky, M. S., Licinio, L., Kok, F., Schlesinger, D., Vainzof, M., Sanchez, N., Kitajima, J. P., Gal, L., Cavacana, N., Serafini, P. R., Chuartzman, S., Vasquez, C., Mimbacas, A., Nigro, V., Pavanello, R. C., Schuldiner, M., Kunkel, L. M., Zatz, M. <strong>A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).</strong> Hum. Molec. Genet. 23: 4103-4110, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24647604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24647604</a>] [<a href="https://doi.org/10.1093/hmg/ddu127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24647604">Vieira et al. (2014)</a> identified a heterozygous c.1667G-C transversion in exon 6 of the HNRNPDL gene, resulting in an asp378-to-his (D378H) substitution at a highly conserved residue. The mutation, which was found by a combination of linkage analysis and whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was filtered against the 1000 Genomes Project and Exome Sequencing Project databases and was not present in 604 Brazilian controls. A mutation at the same residue (D378N; <a href="#0001">607137.0001</a>) was found in another family with the disorder. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24647604" 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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Doi, A., Shiosaka, T., Takaoka, Y., Yanagisawa, K., Fujita, S.
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<strong>Molecular cloning of the cDNA encoding A+U-rich element RNA binding factor.</strong>
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Biochim. Biophys. Acta 1396: 51-56, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9524220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9524220</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9524220" 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/s0167-4781(97)00223-6" target="_blank">Full Text</a>]
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/29/2014.
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Kamei, D., Tsuchiya, N., Yamazaki, M., Meguro, H., Yamada, M.
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<strong>Two forms of expression and genomic structure of the human heterogeneous nuclear ribonucleoprotein D-like JKTBP gene (HNRPDL).</strong>
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Gene 228: 13-22, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10072754" 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/s0378-1119(99)00020-7" target="_blank">Full Text</a>]
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Starling, A., Kok, F., Passos-Bueno, M. R., Vainzof, M., Zatz, M.
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<strong>A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.</strong>
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Europ. J. Hum. Genet. 12: 1033-1040, 2004. Note: Erratum: Europ. J. Hum. Genet. 13: 264 only, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15367920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15367920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15367920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Tsuchiya, N., Kamei, D., Takano, A., Matsui, T., Yamada, M.
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<strong>Cloning and characterization of a cDNA encoding a novel heterogeneous nuclear ribonucleoprotein-like protein and its expression in myeloid leukemia cells.</strong>
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J. Biochem. 123: 499-507, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9538234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9538234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9538234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Vieira, N. M., Naslavsky, M. S., Licinio, L., Kok, F., Schlesinger, D., Vainzof, M., Sanchez, N., Kitajima, J. P., Gal, L., Cavacana, N., Serafini, P. R., Chuartzman, S., Vasquez, C., Mimbacas, A., Nigro, V., Pavanello, R. C., Schuldiner, M., Kunkel, L. M., Zatz, M.
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<strong>A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).</strong>
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Hum. Molec. Genet. 23: 4103-4110, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24647604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24647604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24647604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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carol : 03/27/2017<br>mgross : 08/29/2014<br>carol : 8/26/2014<br>carol : 8/26/2014<br>ckniffin : 8/26/2014<br>wwang : 8/27/2008<br>mgross : 10/7/2002<br>mgross : 10/4/2002<br>mgross : 8/5/2002
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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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HNRPDL<br />
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HNRPD-LIKE PROTEIN<br />
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AU-RICH ELEMENT RNA-BINDING FACTOR<br />
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JKTBP
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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: HNRNPDL</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>SNOMEDCT:</strong> 719990003;
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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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<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: 4q21.22
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Genomic coordinates <span class="small">(GRCh38)</span> : 4:82,422,564-82,430,462 </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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4q21.22
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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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Muscular dystrophy, limb-girdle, autosomal dominant 3
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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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609115
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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>Heterogeneous nuclear ribonucleoproteins (HNRNPs) form protein particles that bind to pre-mRNA and function in splicing and nuclear export. For further background information on HNRNPs, see HNRNPD (601324).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Doi et al. (1998) identified HNRPDL, which they called laAUF1, by differential display of leukemia cell clones showing differentiated and undifferentiated phenotypes. By screening the undifferentiated cell library and using 3-prime RACE, they obtained a cDNA encoding a deduced 271-amino acid protein containing a tyrosine phosphorylation site, 2 AU-rich element (ARE) RNA-binding motifs, and a C-terminal gln-rich motif. HNRPDL shares 73% homology with AUF1 (HNRPD) in the sequence containing the RNA-binding motifs and the gln-rich motif. Northern blot analysis revealed transcripts of approximately 1.5 and 2.4 kb. </p><p>Using an oligodeoxynucleotide, termed JKT41, corresponding to the intron 9 cis-acting element of the myeloperoxidase gene (MPO; 606989) to screen an erythroleukemia cDNA expression library, Tsuchiya et al. (1998) isolated a cDNA encoding HNRPDL, which they called JKT41-binding protein, or JKTBP. The predicted HNRPDL protein contains 302 amino acids. Northern blot analysis revealed mRNAs of approximately 1.4 and 2.8 kb expressed by most cultured cells examined. </p><p>Kamei et al. (1999) identified 2 isoforms of HNRPDL, which they called JKTBP1 and JKTBP2, corresponding to the 1.4- and 2.8-kb transcripts identified by Tsuchiya et al. (1998), respectively. The larger transcript predicts a 420-amino acid protein with a calculated molecular mass of approximately 46.4 kD. The JKTBP2 protein has a longer N terminus, and both proteins contain multiple potential sites for phosphorylation and arginine methylation. Northern blot analysis showed that both transcripts were expressed in all tissues examined, although the amounts and ratios of the transcripts varied in different tissues. Three JKTBP transcripts greater than 2.8 kb were expressed in pancreas, spleen, and thymus. Western blot analysis of myeloid leukemia cells showed proteins of 38 and 53 kD. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Doi et al. (1998) determined that HNRPDL expression was downregulated in leukemia cells following induction to proliferate with interleukin-4 (IL4; 147780) and following induction to differentiate with the phorbol ester TPA. They also found that a recombinant HNRPDL fusion protein had relatively high affinity for substrate with FOS (164810) and MYC (190080) AREs. </p><p>Tsuchiya et al. (1998) determined that recombinant HNRPDL interacted with both the double- and single-stranded forms of JKT41, an oligodeoxynucleotide corresponding to the cis-acting element in intron 9 of the MPO gene. Recombinant HNRPDL also interacted with poly(G) and poly(A), but not with poly(U) or poly(C). Transient expression of HNRPDL repressed expression of reporter genes located downstream of the intron 9 element of JKT41 or the intron 7 element of FERE27, another oligodeoxynucleotide corresponding to MPO. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Structure</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>Kamei et al. (1999) determined that the HNRNPDL gene contains 9 exons and spans approximately 5.6 kb. The 5-prime flanking region shows 66% CG content and 8 SP1 (189906)-binding sites, but no CAAT or TATA boxes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By FISH, Kamei et al. (1999) mapped the HNRNPDL gene to chromosome 4q13-q21. </p><p>Gross (2014) mapped the HNRNPDL gene to chromosome 4q21.22 based on an alignment of the HNRNPDL sequence (GenBank BC011714) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
|
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>In affected members of a Brazilian family and a Uruguayan family with autosomal dominant limb-girdle muscular dystrophy-3 (LGMDD3; 609115), earlier symbolized LGMD1G, Vieira et al. (2014) identified different heterozygous missense mutations affecting the same codon in the HNRNPDL gene (D378N, 607137.0001 and D378H, 607137.0002, respectively). The mutations were found using a combination of linkage analysis and whole-genome sequencing. Functional studies of the variants were not performed. Loss of the yeast homolog hrp1 had pronounced effects on both protein levels and cell localizations, demonstrating that its loss was detrimental to cell physiology. The loss of Hrp1 on the yeast proteome revealed dramatic reorganization of proteins involved in RNA-processing pathways. Skeletal muscle biopsy from a Brazilian patient with severe disease showed a clear myopathic pattern with necrotic fibers and rimmed vacuoles, as well as some neurogenic involvement, as evidenced by small angulated fibers, predominance of type II fibers, and fiber-type grouping. Immunohistochemical studies showed higher variability in nuclear labeling of HNRNPDL compared to controls, with some nuclei showing a strong condensed signal and others showing a diffuse pattern around the nucleus. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Vieira et al. (2014) found that morpholino knockdown of hnrpdl in zebrafish resulted in body shape defects and twisted tails, as well as restricted movement and uncoordination, consistent with a myopathy. Myofibers isolated from mutant zebrafish were disorganized. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
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|
|
|
|
|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>2 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
|
|
|
|
HNRNPDL, ASP378ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777669,
|
|
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|
|
ClinVar: RCV000133585
|
|
|
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|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large Brazilian kindred with autosomal dominant limb-girdle muscular dystrophy type 1G (LGMDD3; 609115), originally reported by Starling et al. (2004), Vieira et al. (2014) identified a heterozygous c.1667G-A transition in exon 6 of the HNRNPDL gene, resulting in an asp378-to-asn (D378N) substitution at a highly conserved residue. The mutation, which was found by a combination of linkage analysis and whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was filtered against the 1000 Genomes Project and Exome Sequencing Project databases and was not present in 604 Brazilian controls. A mutation at the same residue (D378H; 607137.0002) was found in another family with the disorder. Functional studies of the variants were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HNRNPDL, ASP378HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587777669,
|
|
|
|
|
|
|
|
ClinVar: RCV000133586, RCV003317098, RCV004586566
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large Uruguayan family with autosomal dominant limb-girdle muscular dystrophy type 1G (LGMDD3; 609115), Vieira et al. (2014) identified a heterozygous c.1667G-C transversion in exon 6 of the HNRNPDL gene, resulting in an asp378-to-his (D378H) substitution at a highly conserved residue. The mutation, which was found by a combination of linkage analysis and whole-genome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was filtered against the 1000 Genomes Project and Exome Sequencing Project databases and was not present in 604 Brazilian controls. A mutation at the same residue (D378N; 607137.0001) was found in another family with the disorder. Functional studies of the variants were not performed. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Doi, A., Shiosaka, T., Takaoka, Y., Yanagisawa, K., Fujita, S.
|
|
<strong>Molecular cloning of the cDNA encoding A+U-rich element RNA binding factor.</strong>
|
|
Biochim. Biophys. Acta 1396: 51-56, 1998.
|
|
|
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|
|
[PubMed: 9524220]
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[Full Text: https://doi.org/10.1016/s0167-4781(97)00223-6]
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 8/29/2014.
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|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kamei, D., Tsuchiya, N., Yamazaki, M., Meguro, H., Yamada, M.
|
|
<strong>Two forms of expression and genomic structure of the human heterogeneous nuclear ribonucleoprotein D-like JKTBP gene (HNRPDL).</strong>
|
|
Gene 228: 13-22, 1999.
|
|
|
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|
|
[PubMed: 10072754]
|
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|
|
[Full Text: https://doi.org/10.1016/s0378-1119(99)00020-7]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Starling, A., Kok, F., Passos-Bueno, M. R., Vainzof, M., Zatz, M.
|
|
<strong>A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.</strong>
|
|
Europ. J. Hum. Genet. 12: 1033-1040, 2004. Note: Erratum: Europ. J. Hum. Genet. 13: 264 only, 2005.
|
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|
|
[PubMed: 15367920]
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|
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201289]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Tsuchiya, N., Kamei, D., Takano, A., Matsui, T., Yamada, M.
|
|
<strong>Cloning and characterization of a cDNA encoding a novel heterogeneous nuclear ribonucleoprotein-like protein and its expression in myeloid leukemia cells.</strong>
|
|
J. Biochem. 123: 499-507, 1998.
|
|
|
|
|
|
[PubMed: 9538234]
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|
|
[Full Text: https://doi.org/10.1093/oxfordjournals.jbchem.a021964]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Vieira, N. M., Naslavsky, M. S., Licinio, L., Kok, F., Schlesinger, D., Vainzof, M., Sanchez, N., Kitajima, J. P., Gal, L., Cavacana, N., Serafini, P. R., Chuartzman, S., Vasquez, C., Mimbacas, A., Nigro, V., Pavanello, R. C., Schuldiner, M., Kunkel, L. M., Zatz, M.
|
|
<strong>A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).</strong>
|
|
Hum. Molec. Genet. 23: 4103-4110, 2014.
|
|
|
|
|
|
[PubMed: 24647604]
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|
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|
|
[Full Text: https://doi.org/10.1093/hmg/ddu127]
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</p>
|
|
</li>
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</ol>
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<div>
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<br />
|
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</div>
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</div>
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</div>
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<div>
|
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<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Matthew B. Gross - updated : 08/29/2014<br>Cassandra L. Kniffin - updated : 8/26/2014
|
|
</span>
|
|
</div>
|
|
</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 class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
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</div>
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