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Entry
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- *617048 - DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 21; DNAJC21
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- OMIM
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<p>
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<span class="h4">*617048</span>
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<br />
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<strong>Table of Contents</strong>
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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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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/617048">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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 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 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=ENSG00000168724;t=ENST00000648817" 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=134218" 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=617048" 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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<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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<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=ENSG00000168724;t=ENST00000648817" 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_001012339,NM_001348420,NM_194283,XM_005248250,XM_011513965,XM_011513966,XM_047416719,XM_047416720,XM_047416722" 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_001012339" 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=617048" 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 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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<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://www.proteinatlas.org/search/DNAJC21" 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/30046597,32441465,34534793,37729510,41351330,68077166,68077168,78174333,108250182,119576315,296434479,1034643589,1034643593,1034643595,1139869245,2217354426,2217354429,2217354431,2462600525,2462600527,2462600529,2462600531,2462600533,2462600535" 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/Q5F1R6" 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 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=134218" 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=ENSG00000168724;t=ENST00000648817" 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=DNAJC21" 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=DNAJC21" 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+134218" 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/DNAJC21" 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:134218" 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/134218" 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=chr5&hgg_gene=ENST00000648817.1&hgg_start=34929559&hgg_end=34958964&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27030" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=617048[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=617048[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/DNAJC21/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000168724" 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=DNAJC21" 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=DNAJC21" 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=DNAJC21" 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=DNAJC21&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/PA162383874" 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:27030" 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/FBgn0027599.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:1925371" 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/DNAJC21#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:1925371" 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/134218/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://omia.org/OMIA002847/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=134218" 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=WBGene00001035;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-030131-8928" 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=DNAJC21&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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617048
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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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DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 21; DNAJC21
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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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DNAJ HOMOLOGY SUBFAMILY A, MEMBER 5; DNAJA5
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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=DNAJC21" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DNAJC21</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/5/102?start=-3&limit=10&highlight=102">5p13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:34929559-34958964&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'})">5:34,929,559-34,958,964</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/5/102?start=-3&limit=10&highlight=102">
|
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5p13.2
|
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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">
|
|
Bone marrow failure syndrome 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/617052"> 617052 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/617048" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/617048" 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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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<p>DNAJC21 belongs to a highly conserved family of proteins that are involved in protein translation, folding, unfolding, translocation, and degradation, primarily by stimulating the ATPase activity of members of the HSP70 (see HSPA1A, <a href="/entry/140550">140550</a>) family of chaperone proteins (summary by <a href="#5" class="mim-tip-reference" title="Qiu, X.-B., Shao, Y.-M., Miao, S., Wang, L. <strong>The diversity of the DnaJ/Hsp40 family, the crucial partners for Hsp70 chaperones.</strong> Cell. Molec. Life Sci. 63: 2560-2570, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16952052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16952052</a>] [<a href="https://doi.org/10.1007/s00018-006-6192-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16952052">Qiu et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16952052" 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>During a large-scale sequence analysis of a human fetal brain cDNA library, <a href="#1" class="mim-tip-reference" title="Chen, J., Yin, G., Lu, Y., Lou, M., Cheng, H., Ni, X., Hu, G., Luo, C., Ying, K., Xie, Y., Mao, Y. <strong>Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain.</strong> Int. J. Molec. Med. 13: 735-740, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15067379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15067379</a>]" pmid="15067379">Chen et al. (2004)</a> cloned DNAJC21, which they called DNAJA5. The deduced 531-amino acid protein has a calculated molecular mass of 62.1 kD. It has an N-terminal J-domain with an absolutely conserved HPD tripeptide, followed by several GF residues and 2 C2H2-type zinc fingers, one in the central region and the other in the C terminus. The human protein shares 38.8% and 33.2% identity with rat and C. elegans orthologs, respectively. RT-PCR detected DNAJA5 in human brain, placenta, kidney, and pancreas, but not in heart, lung, liver, or skeletal muscle. By database analysis, <a href="#6" class="mim-tip-reference" title="Tummala, H., Walne, A. J., Williams, M., Bockett, N., Collopy, L., Cardoso, S., Ellison, A., Wynn, R., Leblanc, T., Fitzgibbon, J., Kelsell, D. P., van Heel, D. A., Payne, E., Plagnol, V., Dokal, I., Vulliamy, T. <strong>DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation.</strong> Am. J. Hum. Genet. 99: 115-124, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27346687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27346687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27346687[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27346687">Tummala et al. (2016)</a> found that DNAJC21 was ubiquitously expressed in human tissues. Immunohistochemical analysis detected DNAJC21 in both the cytoplasm and the nucleus of HeLa and 293T cells. Within the nucleus, it localized primarily to the nucleolus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27346687+15067379" 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="Tummala, H., Walne, A. J., Williams, M., Bockett, N., Collopy, L., Cardoso, S., Ellison, A., Wynn, R., Leblanc, T., Fitzgibbon, J., Kelsell, D. P., van Heel, D. A., Payne, E., Plagnol, V., Dokal, I., Vulliamy, T. <strong>DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation.</strong> Am. J. Hum. Genet. 99: 115-124, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27346687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27346687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27346687[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27346687">Tummala et al. (2016)</a> found that DNAJC21 translocated from the cytoplasm to the nucleus following inhibition of rRNA synthesis. Immunoprecipitation analysis of nuclear extracts of transfected HeLa cells revealed that fluorescence-tagged DNAJC21 interacted with the precursor 45S rRNA (see RNR1 <a href="/entry/180450">180450</a>) and with the 60S ribosome maturation factors PA2G4 (<a href="/entry/602145">602145</a>), ZNF622 (<a href="/entry/608694">608694</a>), and HSPA8 (<a href="/entry/600816">600816</a>). Knockdown of DNAJC21 in HeLa cells via small interfering RNA caused cytoplasmic accumulation of PA2G4, elongated cell morphology, and cell death. Reintroduction of DNAJC21 rescued cell viability and restored normal PA2G4 trafficking. <a href="#6" class="mim-tip-reference" title="Tummala, H., Walne, A. J., Williams, M., Bockett, N., Collopy, L., Cardoso, S., Ellison, A., Wynn, R., Leblanc, T., Fitzgibbon, J., Kelsell, D. P., van Heel, D. A., Payne, E., Plagnol, V., Dokal, I., Vulliamy, T. <strong>DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation.</strong> Am. J. Hum. Genet. 99: 115-124, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27346687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27346687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27346687[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27346687">Tummala et al. (2016)</a> concluded that DNAJC21 is involved in nucleolar rRNA biogenesis and in cytoplasmic recycling of nuclear export factor PA2G4 for 60S ribosomal subunit maturation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27346687" 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="Chen, J., Yin, G., Lu, Y., Lou, M., Cheng, H., Ni, X., Hu, G., Luo, C., Ying, K., Xie, Y., Mao, Y. <strong>Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain.</strong> Int. J. Molec. Med. 13: 735-740, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15067379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15067379</a>]" pmid="15067379">Chen et al. (2004)</a> determined that the DNAJC21 gene has at least 12 exons and spans more than 25.6 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15067379" 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 genomic sequence analysis, <a href="#1" class="mim-tip-reference" title="Chen, J., Yin, G., Lu, Y., Lou, M., Cheng, H., Ni, X., Hu, G., Luo, C., Ying, K., Xie, Y., Mao, Y. <strong>Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain.</strong> Int. J. Molec. Med. 13: 735-740, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15067379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15067379</a>]" pmid="15067379">Chen et al. (2004)</a> mapped the DNAJC21 gene to chromosome 5p13-p12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15067379" 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="#4" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. July 21, 2016."None>Hartz (2016)</a> mapped the DNAJC21 gene to chromosome 5p13.2 based on an alignment of the DNAJC21 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK022694" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK022694</a>) with the genomic sequence (GRCh38).</p>
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<p>In 4 unrelated children, all born of consanguineous parents, with bone marrow failure syndrome-3 (BMFS3; <a href="/entry/617052">617052</a>), <a href="#6" class="mim-tip-reference" title="Tummala, H., Walne, A. J., Williams, M., Bockett, N., Collopy, L., Cardoso, S., Ellison, A., Wynn, R., Leblanc, T., Fitzgibbon, J., Kelsell, D. P., van Heel, D. A., Payne, E., Plagnol, V., Dokal, I., Vulliamy, T. <strong>DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation.</strong> Am. J. Hum. Genet. 99: 115-124, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27346687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27346687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27346687[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27346687">Tummala et al. (2016)</a> identified homozygous mutations in the DNAJC21 gene (<a href="#0001">617048.0001</a>-<a href="#0004">617048.0004</a>). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Three of the mutations were predicted to result in a truncated protein with a loss of function; the fourth was a missense mutation. In vitro functional expression studies of 1 of the truncating mutations (R173X; <a href="#0001">617048.0001</a>) showed that it did not interact with 60S ribosome maturation factors, consistent with a loss of function. Studies of the missense mutation (P32A; <a href="#0003">617048.0003</a>) showed that it failed to interact with HSPA8 (<a href="/entry/600816">600816</a>). T cells from 1 patient with a truncating mutation (<a href="#0004">617048.0004</a>) showed a growth impairment after mitogenic stimulation, decreased cell viability in response to actinomycin D, and decreased levels of rRNA subunits compared to controls. The findings suggested that the mutations resulted in defects in ribosome biogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27346687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 patients from 3 unrelated families with BMFS3, <a href="#3" class="mim-tip-reference" title="Dhanraj, S., Matveev, A., Li, H., Lauhasurayotin, S., Jardine, L., Cada, M., Zlateska, B., Tailor, C. S., Zhou, J., Mendoza-Londono, R., vincent, A., Durie, P. R., Scherer, S. W., Rommens, J. M., Heon, E., Dror, Y. <strong>Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. (Letter)</strong> Blood 129: 1557-1562, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28062395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28062395</a>] [<a href="https://doi.org/10.1182/blood-2016-08-735431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28062395">Dhanraj et al. (2017)</a> identified homozygous mutations in the DNAJC21 gene, including a nonsense (Q174X; <a href="#0005">617048.0005</a>) and a missense (K34E; <a href="#0006">617048.0006</a>) mutation and an intragenic deletion. The mutations, which were found by a combination of whole-exome sequencing and homozygosity mapping and confirmed by Sanger sequencing, segregated with the disorder in the families. Patient cells showed decreased levels of DNAJC21 protein, consistent with a loss of function. Additional functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28062395" 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="D'Amours, G., Lopes, F., Gauthier, J., Saillour, V., Nassif, C., Wynn, R., Alos, N., Leblanc, T., Capri, Y., Nizard, S., Lemyre, E., Michaud, J. L., Pelletier, V.-A., Pastore, Y. D., Soucy, J.-F. <strong>Refining the phenotype associated with biallelic DNAJC21 mutations.</strong> Clin. Genet. 94: 252-258, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29700810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29700810</a>] [<a href="https://doi.org/10.1111/cge.13370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29700810">D'Amours et al. (2018)</a> identified homozygosity for the K34E mutation in 5 unrelated patients with BMFS3. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29700810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs150576702 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs150576702;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs150576702?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs150576702" 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=rs150576702" 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=RCV000236259 OR RCV000239500 OR RCV004812308" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000236259, RCV000239500, RCV004812308" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000236259...</a>
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<p>In a French girl, born of consanguineous parents, with bone marrow failure syndrome-3 (BMFS3; <a href="/entry/617052">617052</a>), <a href="#6" class="mim-tip-reference" title="Tummala, H., Walne, A. J., Williams, M., Bockett, N., Collopy, L., Cardoso, S., Ellison, A., Wynn, R., Leblanc, T., Fitzgibbon, J., Kelsell, D. P., van Heel, D. A., Payne, E., Plagnol, V., Dokal, I., Vulliamy, T. <strong>DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation.</strong> Am. J. Hum. Genet. 99: 115-124, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27346687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27346687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27346687[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27346687">Tummala et al. (2016)</a> identified a homozygous c.517C-T transition (c.517C-T, NM_001012339.2) in the DNAJC21 gene, resulting in an arg173-to-ter (R173X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the ExAC database. In vitro functional expression studies showed that the R173X mutant failed to interact with DNAJC21 partners, consistent with a loss of function. Moreover, the mutant transcript was predicted to result in nonsense-mediated mRNA decay in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27346687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs368148362 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs368148362;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs368148362?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs368148362" 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=rs368148362" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a girl, born of consanguineous parents of Algerian descent, with bone marrow failure syndrome-3 (BMFS3; <a href="/entry/617052">617052</a>), <a href="#6" class="mim-tip-reference" title="Tummala, H., Walne, A. J., Williams, M., Bockett, N., Collopy, L., Cardoso, S., Ellison, A., Wynn, R., Leblanc, T., Fitzgibbon, J., Kelsell, D. P., van Heel, D. A., Payne, E., Plagnol, V., Dokal, I., Vulliamy, T. <strong>DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation.</strong> Am. J. Hum. Genet. 99: 115-124, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27346687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27346687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27346687[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27346687">Tummala et al. (2016)</a> identified a homozygous c.983+1G-T transversion (c.983+1G-T, NM_001012339.2) in the DNAJC21 gene, resulting in a splice site defect, the skipping of exon 7, a frameshift, and premature termination (Gly299AlafsTer2). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was found at a low frequency (5 of 120,170 alleles) in the heterozygous state in the ExAC database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27346687" 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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DNAJC21, PRO32ALA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879253818 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879253818;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=rs879253818" 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=rs879253818" 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=RCV000235465 OR RCV000239470" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000235465, RCV000239470" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000235465...</a>
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<p>In a boy, born of consanguineous parents of Pakistani descent, with bone marrow failure syndrome-3 (BMFS3; <a href="/entry/617052">617052</a>), <a href="#6" class="mim-tip-reference" title="Tummala, H., Walne, A. J., Williams, M., Bockett, N., Collopy, L., Cardoso, S., Ellison, A., Wynn, R., Leblanc, T., Fitzgibbon, J., Kelsell, D. P., van Heel, D. A., Payne, E., Plagnol, V., Dokal, I., Vulliamy, T. <strong>DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation.</strong> Am. J. Hum. Genet. 99: 115-124, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27346687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27346687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27346687[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27346687">Tummala et al. (2016)</a> identified a homozygous c.94C-G transversion (c.94C-G, NM_001012339.2) in the DNAJC21 gene, resulting in a pro32-to-ala (P32A) substitution at a highly conserved residue in the HPD motif that lies at the heart of the J domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the ExAC database. The mutation was predicted to disrupt protein interactions, and in vitro studies showed that it failed to interact with HSPA8 (<a href="/entry/600816">600816</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27346687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs770282904 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs770282904;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs770282904?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs770282904" 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=rs770282904" 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=RCV000237092 OR RCV000239519" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000237092, RCV000239519" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000237092...</a>
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<p>In a girl, born of consanguineous parents of Pakistani descent, with bone marrow failure syndrome-3 (BMFS3; <a href="/entry/617052">617052</a>), <a href="#6" class="mim-tip-reference" title="Tummala, H., Walne, A. J., Williams, M., Bockett, N., Collopy, L., Cardoso, S., Ellison, A., Wynn, R., Leblanc, T., Fitzgibbon, J., Kelsell, D. P., van Heel, D. A., Payne, E., Plagnol, V., Dokal, I., Vulliamy, T. <strong>DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation.</strong> Am. J. Hum. Genet. 99: 115-124, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27346687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27346687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27346687[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27346687">Tummala et al. (2016)</a> identified a homozygous c.793G-T transversion (c.793G-T, NM_001012339.2) in the DNAJC21 gene, resulting in a glu265-to-ter (E265X) substitution in the DNA-binding domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the ExAC database. Patient-derived T cells showed a lack of DNAJC21 immunoreactivity, growth impairment after mitogenic stimulation, decreased cell viability in response to actinomycin D, and decreased levels of rRNA subunits compared to controls. All of these findings were consistent with a loss of function and a defect in ribosome biogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27346687" 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">rs1561183139 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1561183139;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=rs1561183139" 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=rs1561183139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a girl, born of consanguineous Afghan parents (family 1), with bone marrow failure syndrome-3 (BMFS3; <a href="/entry/617052">617052</a>), <a href="#3" class="mim-tip-reference" title="Dhanraj, S., Matveev, A., Li, H., Lauhasurayotin, S., Jardine, L., Cada, M., Zlateska, B., Tailor, C. S., Zhou, J., Mendoza-Londono, R., vincent, A., Durie, P. R., Scherer, S. W., Rommens, J. M., Heon, E., Dror, Y. <strong>Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. (Letter)</strong> Blood 129: 1557-1562, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28062395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28062395</a>] [<a href="https://doi.org/10.1182/blood-2016-08-735431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28062395">Dhanraj et al. (2017)</a> identified a homozygous c.520C-T transition (c.520C-T, NM_001012339.2) in exon 5 of the DNAJC21 gene, resulting in a gln174-to-ter (Q174X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Patient cells showed markedly reduced DNAJC21 protein levels compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28062395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 BONE MARROW FAILURE SYNDROME 3</strong>
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DNAJC21, LYS34GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1561180439 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1561180439;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=rs1561180439" 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=rs1561180439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000754770 OR RCV001267409" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000754770, RCV001267409" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000754770...</a>
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<p>In 2 sibs, born of consanguineous parents of First Nations Canadian ancestry (family 2), with bone marrow failure syndrome-3 (BMFS3; <a href="/entry/617052">617052</a>), <a href="#3" class="mim-tip-reference" title="Dhanraj, S., Matveev, A., Li, H., Lauhasurayotin, S., Jardine, L., Cada, M., Zlateska, B., Tailor, C. S., Zhou, J., Mendoza-Londono, R., vincent, A., Durie, P. R., Scherer, S. W., Rommens, J. M., Heon, E., Dror, Y. <strong>Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. (Letter)</strong> Blood 129: 1557-1562, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28062395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28062395</a>] [<a href="https://doi.org/10.1182/blood-2016-08-735431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28062395">Dhanraj et al. (2017)</a> identified a homozygous c.100A-G transition in exon 2 of the DNAJC21 gene, resulting in a lys34-to-glu (K34E) substitution at a highly conserved residue in the J domain. The mutation, which was found by a combination of homozygosity mapping and direct Sanger sequencing, segregated with the disorder in the family. Patient cells showed about a 40% reduction in DNAJC21 protein levels compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28062395" 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="D'Amours, G., Lopes, F., Gauthier, J., Saillour, V., Nassif, C., Wynn, R., Alos, N., Leblanc, T., Capri, Y., Nizard, S., Lemyre, E., Michaud, J. L., Pelletier, V.-A., Pastore, Y. D., Soucy, J.-F. <strong>Refining the phenotype associated with biallelic DNAJC21 mutations.</strong> Clin. Genet. 94: 252-258, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29700810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29700810</a>] [<a href="https://doi.org/10.1111/cge.13370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29700810">D'Amours et al. (2018)</a> identified a homozygous K34E mutation in 5 unrelated patients with BMFS3. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29700810" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Chen2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Chen, J., Yin, G., Lu, Y., Lou, M., Cheng, H., Ni, X., Hu, G., Luo, C., Ying, K., Xie, Y., Mao, Y.
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<strong>Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain.</strong>
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Int. J. Molec. Med. 13: 735-740, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15067379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15067379</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15067379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="D'Amours2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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D'Amours, G., Lopes, F., Gauthier, J., Saillour, V., Nassif, C., Wynn, R., Alos, N., Leblanc, T., Capri, Y., Nizard, S., Lemyre, E., Michaud, J. L., Pelletier, V.-A., Pastore, Y. D., Soucy, J.-F.
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<strong>Refining the phenotype associated with biallelic DNAJC21 mutations.</strong>
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Clin. Genet. 94: 252-258, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29700810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29700810</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29700810" 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/10.1111/cge.13370" target="_blank">Full Text</a>]
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Dhanraj2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dhanraj, S., Matveev, A., Li, H., Lauhasurayotin, S., Jardine, L., Cada, M., Zlateska, B., Tailor, C. S., Zhou, J., Mendoza-Londono, R., vincent, A., Durie, P. R., Scherer, S. W., Rommens, J. M., Heon, E., Dror, Y.
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<strong>Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. (Letter)</strong>
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Blood 129: 1557-1562, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28062395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28062395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28062395" 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/10.1182/blood-2016-08-735431" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Hartz2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. July 21, 2016.
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<a id="5" class="mim-anchor"></a>
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<a id="Qiu2006" class="mim-anchor"></a>
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<p class="mim-text-font">
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Qiu, X.-B., Shao, Y.-M., Miao, S., Wang, L.
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<strong>The diversity of the DnaJ/Hsp40 family, the crucial partners for Hsp70 chaperones.</strong>
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Cell. Molec. Life Sci. 63: 2560-2570, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16952052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16952052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16952052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00018-006-6192-6" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Tummala2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tummala, H., Walne, A. J., Williams, M., Bockett, N., Collopy, L., Cardoso, S., Ellison, A., Wynn, R., Leblanc, T., Fitzgibbon, J., Kelsell, D. P., van Heel, D. A., Payne, E., Plagnol, V., Dokal, I., Vulliamy, T.
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<strong>DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation.</strong>
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Am. J. Hum. Genet. 99: 115-124, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27346687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27346687</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27346687[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27346687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2016.05.002" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 01/30/2019
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 07/25/2016
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 07/21/2016
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carol : 02/04/2019
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<span class="mim-text-font">
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carol : 01/30/2019<br>ckniffin : 01/30/2019<br>carol : 07/28/2016<br>ckniffin : 07/25/2016<br>carol : 07/21/2016
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<span class="mim-font">
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<strong>*</strong> 617048
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<h3>
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<span class="mim-font">
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DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 21; DNAJC21
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</h3>
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<div>
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<br />
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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DNAJ HOMOLOGY SUBFAMILY A, MEMBER 5; DNAJA5
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<strong><em>HGNC Approved Gene Symbol: DNAJC21</em></strong>
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Cytogenetic location: 5p13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:34,929,559-34,958,964 </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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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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Inheritance
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</th>
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Phenotype <br /> mapping key
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</th>
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<span class="mim-font">
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5p13.2
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<td>
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<span class="mim-font">
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Bone marrow failure syndrome 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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617052
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</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>DNAJC21 belongs to a highly conserved family of proteins that are involved in protein translation, folding, unfolding, translocation, and degradation, primarily by stimulating the ATPase activity of members of the HSP70 (see HSPA1A, 140550) family of chaperone proteins (summary by Qiu et al., 2006). </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>During a large-scale sequence analysis of a human fetal brain cDNA library, Chen et al. (2004) cloned DNAJC21, which they called DNAJA5. The deduced 531-amino acid protein has a calculated molecular mass of 62.1 kD. It has an N-terminal J-domain with an absolutely conserved HPD tripeptide, followed by several GF residues and 2 C2H2-type zinc fingers, one in the central region and the other in the C terminus. The human protein shares 38.8% and 33.2% identity with rat and C. elegans orthologs, respectively. RT-PCR detected DNAJA5 in human brain, placenta, kidney, and pancreas, but not in heart, lung, liver, or skeletal muscle. By database analysis, Tummala et al. (2016) found that DNAJC21 was ubiquitously expressed in human tissues. Immunohistochemical analysis detected DNAJC21 in both the cytoplasm and the nucleus of HeLa and 293T cells. Within the nucleus, it localized primarily to the nucleolus. </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>Tummala et al. (2016) found that DNAJC21 translocated from the cytoplasm to the nucleus following inhibition of rRNA synthesis. Immunoprecipitation analysis of nuclear extracts of transfected HeLa cells revealed that fluorescence-tagged DNAJC21 interacted with the precursor 45S rRNA (see RNR1 180450) and with the 60S ribosome maturation factors PA2G4 (602145), ZNF622 (608694), and HSPA8 (600816). Knockdown of DNAJC21 in HeLa cells via small interfering RNA caused cytoplasmic accumulation of PA2G4, elongated cell morphology, and cell death. Reintroduction of DNAJC21 rescued cell viability and restored normal PA2G4 trafficking. Tummala et al. (2016) concluded that DNAJC21 is involved in nucleolar rRNA biogenesis and in cytoplasmic recycling of nuclear export factor PA2G4 for 60S ribosomal subunit maturation. </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 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>Chen et al. (2004) determined that the DNAJC21 gene has at least 12 exons and spans more than 25.6 kb. </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">
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<p>By genomic sequence analysis, Chen et al. (2004) mapped the DNAJC21 gene to chromosome 5p13-p12. </p><p>Hartz (2016) mapped the DNAJC21 gene to chromosome 5p13.2 based on an alignment of the DNAJC21 sequence (GenBank AK022694) 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">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 4 unrelated children, all born of consanguineous parents, with bone marrow failure syndrome-3 (BMFS3; 617052), Tummala et al. (2016) identified homozygous mutations in the DNAJC21 gene (617048.0001-617048.0004). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Three of the mutations were predicted to result in a truncated protein with a loss of function; the fourth was a missense mutation. In vitro functional expression studies of 1 of the truncating mutations (R173X; 617048.0001) showed that it did not interact with 60S ribosome maturation factors, consistent with a loss of function. Studies of the missense mutation (P32A; 617048.0003) showed that it failed to interact with HSPA8 (600816). T cells from 1 patient with a truncating mutation (617048.0004) showed a growth impairment after mitogenic stimulation, decreased cell viability in response to actinomycin D, and decreased levels of rRNA subunits compared to controls. The findings suggested that the mutations resulted in defects in ribosome biogenesis. </p><p>In 4 patients from 3 unrelated families with BMFS3, Dhanraj et al. (2017) identified homozygous mutations in the DNAJC21 gene, including a nonsense (Q174X; 617048.0005) and a missense (K34E; 617048.0006) mutation and an intragenic deletion. The mutations, which were found by a combination of whole-exome sequencing and homozygosity mapping and confirmed by Sanger sequencing, segregated with the disorder in the families. Patient cells showed decreased levels of DNAJC21 protein, consistent with a loss of function. Additional functional studies of the variants were not performed. </p><p>D'Amours et al. (2018) identified homozygosity for the K34E mutation in 5 unrelated patients with BMFS3. Functional studies of the variant were not performed. </p>
|
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</span>
|
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 BONE MARROW FAILURE SYNDROME 3</strong>
|
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</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
DNAJC21, ARG173TER
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<br />
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|
|
SNP: rs150576702,
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|
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gnomAD: rs150576702,
|
|
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|
|
|
ClinVar: RCV000236259, RCV000239500, RCV004812308
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French girl, born of consanguineous parents, with bone marrow failure syndrome-3 (BMFS3; 617052), Tummala et al. (2016) identified a homozygous c.517C-T transition (c.517C-T, NM_001012339.2) in the DNAJC21 gene, resulting in an arg173-to-ter (R173X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the ExAC database. In vitro functional expression studies showed that the R173X mutant failed to interact with DNAJC21 partners, consistent with a loss of function. Moreover, the mutant transcript was predicted to result in nonsense-mediated mRNA decay in vivo. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 BONE MARROW FAILURE SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DNAJC21, 983+1G-T
|
|
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|
|
<br />
|
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|
|
SNP: rs368148362,
|
|
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|
|
|
gnomAD: rs368148362,
|
|
|
|
|
|
ClinVar: RCV000239558
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl, born of consanguineous parents of Algerian descent, with bone marrow failure syndrome-3 (BMFS3; 617052), Tummala et al. (2016) identified a homozygous c.983+1G-T transversion (c.983+1G-T, NM_001012339.2) in the DNAJC21 gene, resulting in a splice site defect, the skipping of exon 7, a frameshift, and premature termination (Gly299AlafsTer2). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was found at a low frequency (5 of 120,170 alleles) in the heterozygous state in the ExAC database. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 BONE MARROW FAILURE SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DNAJC21, PRO32ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs879253818,
|
|
|
|
|
|
|
|
ClinVar: RCV000235465, RCV000239470
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy, born of consanguineous parents of Pakistani descent, with bone marrow failure syndrome-3 (BMFS3; 617052), Tummala et al. (2016) identified a homozygous c.94C-G transversion (c.94C-G, NM_001012339.2) in the DNAJC21 gene, resulting in a pro32-to-ala (P32A) substitution at a highly conserved residue in the HPD motif that lies at the heart of the J domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the ExAC database. The mutation was predicted to disrupt protein interactions, and in vitro studies showed that it failed to interact with HSPA8 (600816). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 BONE MARROW FAILURE SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DNAJC21, GLU265TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs770282904,
|
|
|
|
|
|
gnomAD: rs770282904,
|
|
|
|
|
|
ClinVar: RCV000237092, RCV000239519
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl, born of consanguineous parents of Pakistani descent, with bone marrow failure syndrome-3 (BMFS3; 617052), Tummala et al. (2016) identified a homozygous c.793G-T transversion (c.793G-T, NM_001012339.2) in the DNAJC21 gene, resulting in a glu265-to-ter (E265X) substitution in the DNA-binding domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the ExAC database. Patient-derived T cells showed a lack of DNAJC21 immunoreactivity, growth impairment after mitogenic stimulation, decreased cell viability in response to actinomycin D, and decreased levels of rRNA subunits compared to controls. All of these findings were consistent with a loss of function and a defect in ribosome biogenesis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 BONE MARROW FAILURE SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DNAJC21, GLN174TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1561183139,
|
|
|
|
|
|
|
|
ClinVar: RCV000754769
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl, born of consanguineous Afghan parents (family 1), with bone marrow failure syndrome-3 (BMFS3; 617052), Dhanraj et al. (2017) identified a homozygous c.520C-T transition (c.520C-T, NM_001012339.2) in exon 5 of the DNAJC21 gene, resulting in a gln174-to-ter (Q174X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Patient cells showed markedly reduced DNAJC21 protein levels compared to controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 BONE MARROW FAILURE SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DNAJC21, LYS34GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1561180439,
|
|
|
|
|
|
|
|
ClinVar: RCV000754770, RCV001267409
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs, born of consanguineous parents of First Nations Canadian ancestry (family 2), with bone marrow failure syndrome-3 (BMFS3; 617052), Dhanraj et al. (2017) identified a homozygous c.100A-G transition in exon 2 of the DNAJC21 gene, resulting in a lys34-to-glu (K34E) substitution at a highly conserved residue in the J domain. The mutation, which was found by a combination of homozygosity mapping and direct Sanger sequencing, segregated with the disorder in the family. Patient cells showed about a 40% reduction in DNAJC21 protein levels compared to controls. </p><p>D'Amours et al. (2018) identified a homozygous K34E mutation in 5 unrelated patients with BMFS3. Functional studies of the variant were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, J., Yin, G., Lu, Y., Lou, M., Cheng, H., Ni, X., Hu, G., Luo, C., Ying, K., Xie, Y., Mao, Y.
|
|
<strong>Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain.</strong>
|
|
Int. J. Molec. Med. 13: 735-740, 2004.
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|
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|
|
[PubMed: 15067379]
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
D'Amours, G., Lopes, F., Gauthier, J., Saillour, V., Nassif, C., Wynn, R., Alos, N., Leblanc, T., Capri, Y., Nizard, S., Lemyre, E., Michaud, J. L., Pelletier, V.-A., Pastore, Y. D., Soucy, J.-F.
|
|
<strong>Refining the phenotype associated with biallelic DNAJC21 mutations.</strong>
|
|
Clin. Genet. 94: 252-258, 2018.
|
|
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|
|
[PubMed: 29700810]
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|
|
[Full Text: https://doi.org/10.1111/cge.13370]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Dhanraj, S., Matveev, A., Li, H., Lauhasurayotin, S., Jardine, L., Cada, M., Zlateska, B., Tailor, C. S., Zhou, J., Mendoza-Londono, R., vincent, A., Durie, P. R., Scherer, S. W., Rommens, J. M., Heon, E., Dror, Y.
|
|
<strong>Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. (Letter)</strong>
|
|
Blood 129: 1557-1562, 2017.
|
|
|
|
|
|
[PubMed: 28062395]
|
|
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|
|
|
[Full Text: https://doi.org/10.1182/blood-2016-08-735431]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. July 21, 2016.
|
|
|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Qiu, X.-B., Shao, Y.-M., Miao, S., Wang, L.
|
|
<strong>The diversity of the DnaJ/Hsp40 family, the crucial partners for Hsp70 chaperones.</strong>
|
|
Cell. Molec. Life Sci. 63: 2560-2570, 2006.
|
|
|
|
|
|
[PubMed: 16952052]
|
|
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|
|
[Full Text: https://doi.org/10.1007/s00018-006-6192-6]
|
|
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|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
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Tummala, H., Walne, A. J., Williams, M., Bockett, N., Collopy, L., Cardoso, S., Ellison, A., Wynn, R., Leblanc, T., Fitzgibbon, J., Kelsell, D. P., van Heel, D. A., Payne, E., Plagnol, V., Dokal, I., Vulliamy, T.
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<strong>DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation.</strong>
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Am. J. Hum. Genet. 99: 115-124, 2016.
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[PubMed: 27346687]
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[Full Text: https://doi.org/10.1016/j.ajhg.2016.05.002]
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Cassandra L. Kniffin - updated : 01/30/2019<br>Cassandra L. Kniffin - updated : 07/25/2016
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