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Entry
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- *611341 - DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 11; DNAJB11
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- OMIM
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<p>
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<span class="h4">*611341</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="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</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/611341">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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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<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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<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=ENSG00000090520;t=ENST00000265028" 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=51726" 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=611341" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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=ENSG00000090520;t=ENST00000265028" 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_001378451,NM_016306,NR_165638,NR_165639,NR_165640,NR_165641,NR_165642,NR_165643" 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_016306" 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=611341" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=07485&isoform_id=07485_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/DNAJB11" 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/6567166,6688203,7385135,7706495,12654615,14579002,18203497,22761301,22761515,30582965,37183204,48146309,61890423,119598596,193784872,194376182,1808862639" 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/Q9UBS4" 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=51726" 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=ENSG00000090520;t=ENST00000265028" 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=DNAJB11" 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=DNAJB11" 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+51726" 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/DNAJB11" 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:51726" 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/51726" 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=chr3&hgg_gene=ENST00000418776.1&hgg_start=186570720&hgg_end=186585793&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:14889" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611341[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=611341[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000090520" 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=DNAJB11" 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=DNAJB11" 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=DNAJB11" 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=DNAJB11&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/PA27413" 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:14889" 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/FBgn0031256.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:1915088" 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/DNAJB11#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:1915088" 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/51726/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=51726" 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=WBGene00001038;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-031113-9" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:51726" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=DNAJB11&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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611341
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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 B, MEMBER 11; DNAJB11
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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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HUMAN ENDOPLASMIC RETICULUM-ASSOCIATED DNAJ; HEDJ<br />
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DJ9<br />
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APOBEC1-BINDING PROTEIN 2; ABBP2
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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=DNAJB11" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DNAJB11</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/3/935?start=-3&limit=10&highlight=935">3q27.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:186570720-186585793&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'})">3:186,570,720-186,585,793</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/3/935?start=-3&limit=10&highlight=935">
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3q27.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Polycystic kidney disease 6 with or without polycystic liver disease
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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/618061"> 618061 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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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/611341" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/611341" 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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</div>
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<p>The DNAJB11 gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) that acts as a cofactor of GRP78 (HSPA5; <a href="/entry/138120">138120</a>), a heat shock protein chaperone required for the proper folding, assembly, trafficking, and degradation of proteins. DNAJB11 thus plays a role in ER protein homeostasis (summary by <a href="#1" class="mim-tip-reference" title="Cornec-Le Gall, E., Olson, R. J., Besse, W., Heyer, C. M., Gainullin, V. G., Smith, J. M., Audrezet, M.-P., Hopp, K., Porath, B., Shi, B., Baheti, S., Senum, S. R., and 18 others. <strong>Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease.</strong> Am. J. Hum. Genet. 102: 832-844, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29706351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29706351</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29706351">Cornec-Le Gall et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29706351" 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>DNAJB11 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a C-terminal cysteine-rich region (<a href="#4" class="mim-tip-reference" title="Ohtsuka, K., Hata, M. <strong>Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature.</strong> Cell Stress Chaperones 5: 98-112, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11147971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11147971</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11147971[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/10.1379/1466-1268(2000)005<0098:mhdhco>2.0.co;2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11147971">Ohtsuka and Hata, 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11147971" 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 searching EST databases for J domain-containing proteins, <a href="#4" class="mim-tip-reference" title="Ohtsuka, K., Hata, M. <strong>Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature.</strong> Cell Stress Chaperones 5: 98-112, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11147971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11147971</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11147971[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/10.1379/1466-1268(2000)005<0098:mhdhco>2.0.co;2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11147971">Ohtsuka and Hata (2000)</a> identified 10 mouse and human DNAJ homologs, including mouse Dnajb11. The deduced type II transmembrane protein contains 358 amino acids with an N-terminal J domain. Dnajb11 is predicted to have an N-terminal signal peptide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11147971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using database analysis to identify human homologs of a protein involved in Shiga toxin trafficking in monkey kidney cells, followed by PCR of a human skeletal muscle cDNA library, <a href="#5" class="mim-tip-reference" title="Yu, M., Haslam, R. H. A., Haslam, D. B. <strong>HEDJ, an Hsp40 co-chaperone localized to the endoplasmic reticulum of human cells.</strong> J. Biol. Chem. 275: 24984-24992, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827079</a>] [<a href="https://doi.org/10.1074/jbc.M000739200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10827079">Yu et al. (2000)</a> cloned DNAJB11, which they called HEDJ. Northern blot analysis detected transcripts of 2.2 and 2.0 kb in all tissues examined, with highest expression in pancreas and testis, and weakest expression in thymus and small intestine. Confocal microscopy showed that epitope-tagged DNAJB11 localized to the endoplasmic reticulum (ER). Protease susceptibility, glycosidase treatment, and detergent solubility assays demonstrated that DNAJB11 is luminally oriented and membrane-associated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10827079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using APOBEC1 (<a href="/entry/600130">600130</a>) as bait in a yeast 2-hybrid analysis of a liver cDNA library, followed by 5-prime RACE, <a href="#3" class="mim-tip-reference" title="Lau, P. P., Villanueva, H., Kobayashi, K., Nakamuta, M., Chang, B. H.-J., Chan, L. <strong>A DnaJ protein, Apobec-1-binding protein-2, modulates apolipoprotein B mRNA editing.</strong> J. Biol. Chem. 276: 46445-46452, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11584023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11584023</a>] [<a href="https://doi.org/10.1074/jbc.M109215200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11584023">Lau et al. (2001)</a> cloned DNAJB11, which they called ABBP2. The deduced 358-amino acid protein has a calculated molecular mass of 40.5 kD and shares 99% sequence identity with the mouse protein. DNAJB11 contains a conserved J domain, a weak G/F region, and a region that contains 4 cysteines but lacks the zinc finger domain found in some DNAJ proteins. The secondary and tertiary structures of DNAJB11 closely resemble those of HDJ1 (DNAJB1; <a href="/entry/604570">604570</a>). Northern blot analysis detected transcripts of 1.5 and 2.0 kb in all tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11584023" 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="#2" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 2/12/2021."None>Gross (2021)</a> mapped the DNAJB11 gene to chromosome 3q27.3 based on an alignment of the DNAJB11 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC001144" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC001144</a>) with the genomic sequence (GRCh38).</p>
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<p>Using in vitro experiments, <a href="#5" class="mim-tip-reference" title="Yu, M., Haslam, R. H. A., Haslam, D. B. <strong>HEDJ, an Hsp40 co-chaperone localized to the endoplasmic reticulum of human cells.</strong> J. Biol. Chem. 275: 24984-24992, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827079</a>] [<a href="https://doi.org/10.1074/jbc.M000739200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10827079">Yu et al. (2000)</a> demonstrated that the J domain of DNAJB11 interacted with the ER-associated heat-shock protein BIP (HSPA5; <a href="/entry/138120">138120</a>) in an ATP-dependent manner and was capable of stimulating its ATPase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10827079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Lau, P. P., Villanueva, H., Kobayashi, K., Nakamuta, M., Chang, B. H.-J., Chan, L. <strong>A DnaJ protein, Apobec-1-binding protein-2, modulates apolipoprotein B mRNA editing.</strong> J. Biol. Chem. 276: 46445-46452, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11584023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11584023</a>] [<a href="https://doi.org/10.1074/jbc.M109215200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11584023">Lau et al. (2001)</a> showed that DNAJB11 bound to APOBEC1 via its J domain and neighboring G/F domain. Downregulation of DNAJB11 expression in a human hepatocarcinoma cell line inhibited endogenous APOBEC1-mediated apolipoprotein B (APOB; <a href="/entry/107730">107730</a>) mRNA editing. Like other HSP40 proteins, DNAJB11 bound to HSP70 (see HSPA1A, <a href="/entry/140550">140550</a>) and had ATPase-stimulating activity. APOBEC1-mediated APOB mRNA editing activity of in vitro tissue extracts required the presence of HSP70/DNAJB11. Although exogenously added ATP was not required for editing activity, removal of the endogenous ATP present in these extracts disrupted DNAJB11-HSP70 interaction and completely inhibited editing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11584023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 7 unrelated multigenerational families with autosomal dominant polycystic kidney disease-6 with or without polycystic liver disease (PKD6; <a href="/entry/618061">618061</a>), <a href="#1" class="mim-tip-reference" title="Cornec-Le Gall, E., Olson, R. J., Besse, W., Heyer, C. M., Gainullin, V. G., Smith, J. M., Audrezet, M.-P., Hopp, K., Porath, B., Shi, B., Baheti, S., Senum, S. R., and 18 others. <strong>Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease.</strong> Am. J. Hum. Genet. 102: 832-844, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29706351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29706351</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29706351">Cornec-Le Gall et al. (2018)</a> identified 5 different heterozygous mutations in the DNAJB11 gene (<a href="#0001">611341.0001</a>-<a href="#0005">611341.0005</a>). Mutations in the first 2 families were found by whole-exome sequencing through large screening studies, whereas the remaining mutations were found by targeted next-generation sequencing of candidate genes among 591 families. All mutations were confirmed by Sanger sequencing and segregated with the disorder in the families. The mutations included 2 missense, 2 frameshift, and 1 nonsense, all of which occurred in the J domain, through which DNAJB11 interacts with BIP (HSPA5; <a href="/entry/138120">138120</a>), or in the substrate-binding domain. Functional studies of the variants were not performed. Analysis of DNAJB11-null human renal cortical tubular epithelial cells showed decreased levels of mature cleaved polycystin-1 (PKD1; <a href="/entry/601313">601313</a>) and increased levels of full-length immature PKD1, indicating a defect in the maturation process. Membrane expression of PKD1 was also significantly decreased in DNAJB11-null cells, consistent with a trafficking defect. There was no evidence of activation of the unfolded protein response in these cells. Kidney tissue samples from 2 unrelated patients showed some abnormal intracellular retention of uromodulin (UMOD; <a href="/entry/191845">191845</a>) and MUC1 (<a href="/entry/158340">158340</a>) in epithelial cells in the thick ascending loop of Henle, suggesting that tubulointerstitial kidney disease may be a component of the disorder (see ADTKD1, <a href="/entry/162000">162000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29706351" 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">rs1553849919 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553849919;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=rs1553849919" 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=rs1553849919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a multigenerational family (family 1) with autosomal dominant polycystic kidney disease-6 with or without polycystic liver disease (PKD6; <a href="/entry/618061">618061</a>), <a href="#1" class="mim-tip-reference" title="Cornec-Le Gall, E., Olson, R. J., Besse, W., Heyer, C. M., Gainullin, V. G., Smith, J. M., Audrezet, M.-P., Hopp, K., Porath, B., Shi, B., Baheti, S., Senum, S. R., and 18 others. <strong>Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease.</strong> Am. J. Hum. Genet. 102: 832-844, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29706351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29706351</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29706351">Cornec-Le Gall et al. (2018)</a> identified a heterozygous c.161C-G transversion (c.161C-G, NM_016306.5) in exon 2 of the DNAJB11 gene, resulting in a pro54-to-arg (P54R) substitution at a highly conserved residue in the HPD motif of the J domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the gnomAD database. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29706351" 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>.0002 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553849920 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553849920;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=rs1553849920" 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=rs1553849920" 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=RCV000664418" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000664418" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000664418</a>
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<p>In affected members of a multigenerational family (family 2) with autosomal dominant polycystic kidney disease-6 with or without polycystic liver disease (PKD6; <a href="/entry/618061">618061</a>), <a href="#1" class="mim-tip-reference" title="Cornec-Le Gall, E., Olson, R. J., Besse, W., Heyer, C. M., Gainullin, V. G., Smith, J. M., Audrezet, M.-P., Hopp, K., Porath, B., Shi, B., Baheti, S., Senum, S. R., and 18 others. <strong>Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease.</strong> Am. J. Hum. Genet. 102: 832-844, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29706351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29706351</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29706351">Cornec-Le Gall et al. (2018)</a> identified a heterozygous 2-bp insertion (c.166_167insTT, NM_016306.5) in the DNAJB11 gene, resulting in a frameshift and premature termination (Arg56LeufsTer40) within the J domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29706351" 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>.0003 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1351138670 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1351138670;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=rs1351138670" 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=rs1351138670" 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=RCV000664419" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000664419" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000664419</a>
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<p>In affected members of a multigenerational family (family 3) with autosomal dominant polycystic kidney disease-6 with or without polycystic liver disease (PKD6; <a href="/entry/618061">618061</a>), <a href="#1" class="mim-tip-reference" title="Cornec-Le Gall, E., Olson, R. J., Besse, W., Heyer, C. M., Gainullin, V. G., Smith, J. M., Audrezet, M.-P., Hopp, K., Porath, B., Shi, B., Baheti, S., Senum, S. R., and 18 others. <strong>Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease.</strong> Am. J. Hum. Genet. 102: 832-844, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29706351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29706351</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29706351">Cornec-Le Gall et al. (2018)</a> identified a heterozygous 1-bp deletion (c.479delC, NM_016306.5) in exon 6 of the DNAJB11 gene, resulting in a frameshift and premature termination (Ala160GlufsTer27) within the substrate-binding domain. The mutation, which was found by targeted next-generation sequencing of candidate genes and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29706351" 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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<span class="mim-font">
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<strong>.0004 POLYCYSTIC KIDNEY DISEASE 6 WITHOUT POLYCYSTIC LIVER DISEASE</strong>
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DNAJB11, LEU77PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553850185 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553850185;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=rs1553850185" 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=rs1553850185" 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=RCV000664420" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000664420" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000664420</a>
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<p>In affected members of a multigenerational family (family 4) with autosomal dominant polycystic kidney disease-6 without polycystic liver disease (PKD6; <a href="/entry/618061">618061</a>), <a href="#1" class="mim-tip-reference" title="Cornec-Le Gall, E., Olson, R. J., Besse, W., Heyer, C. M., Gainullin, V. G., Smith, J. M., Audrezet, M.-P., Hopp, K., Porath, B., Shi, B., Baheti, S., Senum, S. R., and 18 others. <strong>Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease.</strong> Am. J. Hum. Genet. 102: 832-844, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29706351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29706351</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29706351">Cornec-Le Gall et al. (2018)</a> identified a heterozygous c.230T-C transition (c.230T-C, NM_016306.5) in exon 4 of the DNAJB11 gene, resulting in a leu77-to-pro (L77P) substitution at a highly conserved residue in the J domain. The mutation, which was found by targeted next-generation sequencing of candidate genes and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the gnomAD database. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29706351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE</strong>
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DNAJB11, ARG206TER
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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> rs941713150 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs941713150;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/rs941713150?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=rs941713150" 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=rs941713150" 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=RCV000664421 OR RCV001249131" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000664421, RCV001249131" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000664421...</a>
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<p>In affected members of 3 unrelated multigenerational families (families 5, 6, and 7) with autosomal dominant polycystic kidney disease-6 with or without polycystic liver disease (PKD6; <a href="/entry/618061">618061</a>), <a href="#1" class="mim-tip-reference" title="Cornec-Le Gall, E., Olson, R. J., Besse, W., Heyer, C. M., Gainullin, V. G., Smith, J. M., Audrezet, M.-P., Hopp, K., Porath, B., Shi, B., Baheti, S., Senum, S. R., and 18 others. <strong>Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease.</strong> Am. J. Hum. Genet. 102: 832-844, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29706351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29706351</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29706351">Cornec-Le Gall et al. (2018)</a> identified a heterozygous c.616C-T transition (c.616C-T, NM_016306.5) in exon 7 of the DNAJB11 gene, resulting in an arg206-to-ter (R206X) substitution within the substrate-binding domain. The mutation, which was found by targeted next-generation sequencing of candidate genes and confirmed by Sanger sequencing, segregated with the disorder in the families. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29706351" 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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Cornec-Le Gall, E., Olson, R. J., Besse, W., Heyer, C. M., Gainullin, V. G., Smith, J. M., Audrezet, M.-P., Hopp, K., Porath, B., Shi, B., Baheti, S., Senum, S. R., and 18 others.
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<strong>Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease.</strong>
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Am. J. Hum. Genet. 102: 832-844, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29706351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29706351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29706351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2018.03.013" target="_blank">Full Text</a>]
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 2/12/2021.
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Lau, P. P., Villanueva, H., Kobayashi, K., Nakamuta, M., Chang, B. H.-J., Chan, L.
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<strong>A DnaJ protein, Apobec-1-binding protein-2, modulates apolipoprotein B mRNA editing.</strong>
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J. Biol. Chem. 276: 46445-46452, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11584023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11584023</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11584023" 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/10.1074/jbc.M109215200" target="_blank">Full Text</a>]
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Ohtsuka, K., Hata, M.
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<strong>Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature.</strong>
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Cell Stress Chaperones 5: 98-112, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11147971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11147971</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11147971[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=11147971" 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/10.1379/1466-1268(2000)005<0098:mhdhco>2.0.co;2" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Yu2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yu, M., Haslam, R. H. A., Haslam, D. B.
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<strong>HEDJ, an Hsp40 co-chaperone localized to the endoplasmic reticulum of human cells.</strong>
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J. Biol. Chem. 275: 24984-24992, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827079</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10827079" 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/10.1074/jbc.M000739200" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 02/12/2021
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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 : 07/25/2018
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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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 : 8/16/2007
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 02/12/2021
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/09/2021<br>ckniffin : 01/26/2021<br>carol : 07/30/2018<br>carol : 07/27/2018<br>ckniffin : 07/25/2018<br>carol : 08/17/2007<br>carol : 8/17/2007
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611341
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<div>
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<h3>
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<span class="mim-font">
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DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 11; DNAJB11
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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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<span class="mim-font">
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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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HUMAN ENDOPLASMIC RETICULUM-ASSOCIATED DNAJ; HEDJ<br />
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DJ9<br />
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APOBEC1-BINDING PROTEIN 2; ABBP2
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</span>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DNAJB11</em></strong>
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<strong>
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<em>
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Cytogenetic location: 3q27.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:186,570,720-186,585,793 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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3q27.3
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<td>
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<span class="mim-font">
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Polycystic kidney disease 6 with or without polycystic liver disease
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</td>
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<td>
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<span class="mim-font">
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618061
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The DNAJB11 gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) that acts as a cofactor of GRP78 (HSPA5; 138120), a heat shock protein chaperone required for the proper folding, assembly, trafficking, and degradation of proteins. DNAJB11 thus plays a role in ER protein homeostasis (summary by Cornec-Le Gall et al., 2018). </p><p>DNAJB11 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a C-terminal cysteine-rich region (Ohtsuka and Hata, 2000). </p>
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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>By searching EST databases for J domain-containing proteins, Ohtsuka and Hata (2000) identified 10 mouse and human DNAJ homologs, including mouse Dnajb11. The deduced type II transmembrane protein contains 358 amino acids with an N-terminal J domain. Dnajb11 is predicted to have an N-terminal signal peptide. </p><p>Using database analysis to identify human homologs of a protein involved in Shiga toxin trafficking in monkey kidney cells, followed by PCR of a human skeletal muscle cDNA library, Yu et al. (2000) cloned DNAJB11, which they called HEDJ. Northern blot analysis detected transcripts of 2.2 and 2.0 kb in all tissues examined, with highest expression in pancreas and testis, and weakest expression in thymus and small intestine. Confocal microscopy showed that epitope-tagged DNAJB11 localized to the endoplasmic reticulum (ER). Protease susceptibility, glycosidase treatment, and detergent solubility assays demonstrated that DNAJB11 is luminally oriented and membrane-associated. </p><p>Using APOBEC1 (600130) as bait in a yeast 2-hybrid analysis of a liver cDNA library, followed by 5-prime RACE, Lau et al. (2001) cloned DNAJB11, which they called ABBP2. The deduced 358-amino acid protein has a calculated molecular mass of 40.5 kD and shares 99% sequence identity with the mouse protein. DNAJB11 contains a conserved J domain, a weak G/F region, and a region that contains 4 cysteines but lacks the zinc finger domain found in some DNAJ proteins. The secondary and tertiary structures of DNAJB11 closely resemble those of HDJ1 (DNAJB1; 604570). Northern blot analysis detected transcripts of 1.5 and 2.0 kb in all tissues examined. </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>Gross (2021) mapped the DNAJB11 gene to chromosome 3q27.3 based on an alignment of the DNAJB11 sequence (GenBank BC001144) 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>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>Using in vitro experiments, Yu et al. (2000) demonstrated that the J domain of DNAJB11 interacted with the ER-associated heat-shock protein BIP (HSPA5; 138120) in an ATP-dependent manner and was capable of stimulating its ATPase activity. </p><p>Lau et al. (2001) showed that DNAJB11 bound to APOBEC1 via its J domain and neighboring G/F domain. Downregulation of DNAJB11 expression in a human hepatocarcinoma cell line inhibited endogenous APOBEC1-mediated apolipoprotein B (APOB; 107730) mRNA editing. Like other HSP40 proteins, DNAJB11 bound to HSP70 (see HSPA1A, 140550) and had ATPase-stimulating activity. APOBEC1-mediated APOB mRNA editing activity of in vitro tissue extracts required the presence of HSP70/DNAJB11. Although exogenously added ATP was not required for editing activity, removal of the endogenous ATP present in these extracts disrupted DNAJB11-HSP70 interaction and completely inhibited editing. </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 affected members of 7 unrelated multigenerational families with autosomal dominant polycystic kidney disease-6 with or without polycystic liver disease (PKD6; 618061), Cornec-Le Gall et al. (2018) identified 5 different heterozygous mutations in the DNAJB11 gene (611341.0001-611341.0005). Mutations in the first 2 families were found by whole-exome sequencing through large screening studies, whereas the remaining mutations were found by targeted next-generation sequencing of candidate genes among 591 families. All mutations were confirmed by Sanger sequencing and segregated with the disorder in the families. The mutations included 2 missense, 2 frameshift, and 1 nonsense, all of which occurred in the J domain, through which DNAJB11 interacts with BIP (HSPA5; 138120), or in the substrate-binding domain. Functional studies of the variants were not performed. Analysis of DNAJB11-null human renal cortical tubular epithelial cells showed decreased levels of mature cleaved polycystin-1 (PKD1; 601313) and increased levels of full-length immature PKD1, indicating a defect in the maturation process. Membrane expression of PKD1 was also significantly decreased in DNAJB11-null cells, consistent with a trafficking defect. There was no evidence of activation of the unfolded protein response in these cells. Kidney tissue samples from 2 unrelated patients showed some abnormal intracellular retention of uromodulin (UMOD; 191845) and MUC1 (158340) in epithelial cells in the thick ascending loop of Henle, suggesting that tubulointerstitial kidney disease may be a component of the disorder (see ADTKD1, 162000). </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>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
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DNAJB11, PRO54ARG
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<br />
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|
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SNP: rs1553849919,
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|
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ClinVar: RCV000664417
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In affected members of a multigenerational family (family 1) with autosomal dominant polycystic kidney disease-6 with or without polycystic liver disease (PKD6; 618061), Cornec-Le Gall et al. (2018) identified a heterozygous c.161C-G transversion (c.161C-G, NM_016306.5) in exon 2 of the DNAJB11 gene, resulting in a pro54-to-arg (P54R) substitution at a highly conserved residue in the HPD motif of the J domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the gnomAD database. Functional studies of the variant were not performed. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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DNAJB11, 2-BP INS, 166TT
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<br />
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SNP: rs1553849920,
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ClinVar: RCV000664418
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In affected members of a multigenerational family (family 2) with autosomal dominant polycystic kidney disease-6 with or without polycystic liver disease (PKD6; 618061), Cornec-Le Gall et al. (2018) identified a heterozygous 2-bp insertion (c.166_167insTT, NM_016306.5) in the DNAJB11 gene, resulting in a frameshift and premature termination (Arg56LeufsTer40) within the J domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DNAJB11, 1-BP DEL, 479C
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<br />
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SNP: rs1351138670,
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ClinVar: RCV000664419
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a multigenerational family (family 3) with autosomal dominant polycystic kidney disease-6 with or without polycystic liver disease (PKD6; 618061), Cornec-Le Gall et al. (2018) identified a heterozygous 1-bp deletion (c.479delC, NM_016306.5) in exon 6 of the DNAJB11 gene, resulting in a frameshift and premature termination (Ala160GlufsTer27) within the substrate-binding domain. The mutation, which was found by targeted next-generation sequencing of candidate genes and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 POLYCYSTIC KIDNEY DISEASE 6 WITHOUT POLYCYSTIC LIVER DISEASE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DNAJB11, LEU77PRO
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<br />
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SNP: rs1553850185,
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ClinVar: RCV000664420
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a multigenerational family (family 4) with autosomal dominant polycystic kidney disease-6 without polycystic liver disease (PKD6; 618061), Cornec-Le Gall et al. (2018) identified a heterozygous c.230T-C transition (c.230T-C, NM_016306.5) in exon 4 of the DNAJB11 gene, resulting in a leu77-to-pro (L77P) substitution at a highly conserved residue in the J domain. The mutation, which was found by targeted next-generation sequencing of candidate genes and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the gnomAD database. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DNAJB11, ARG206TER
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<br />
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SNP: rs941713150,
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gnomAD: rs941713150,
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ClinVar: RCV000664421, RCV001249131
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of 3 unrelated multigenerational families (families 5, 6, and 7) with autosomal dominant polycystic kidney disease-6 with or without polycystic liver disease (PKD6; 618061), Cornec-Le Gall et al. (2018) identified a heterozygous c.616C-T transition (c.616C-T, NM_016306.5) in exon 7 of the DNAJB11 gene, resulting in an arg206-to-ter (R206X) substitution within the substrate-binding domain. The mutation, which was found by targeted next-generation sequencing of candidate genes and confirmed by Sanger sequencing, segregated with the disorder in the families. Functional studies of the variant were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Cornec-Le Gall, E., Olson, R. J., Besse, W., Heyer, C. M., Gainullin, V. G., Smith, J. M., Audrezet, M.-P., Hopp, K., Porath, B., Shi, B., Baheti, S., Senum, S. R., and 18 others.
|
|
<strong>Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease.</strong>
|
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Am. J. Hum. Genet. 102: 832-844, 2018.
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[PubMed: 29706351]
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[Full Text: https://doi.org/10.1016/j.ajhg.2018.03.013]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 2/12/2021.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Lau, P. P., Villanueva, H., Kobayashi, K., Nakamuta, M., Chang, B. H.-J., Chan, L.
|
|
<strong>A DnaJ protein, Apobec-1-binding protein-2, modulates apolipoprotein B mRNA editing.</strong>
|
|
J. Biol. Chem. 276: 46445-46452, 2001.
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|
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[PubMed: 11584023]
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[Full Text: https://doi.org/10.1074/jbc.M109215200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ohtsuka, K., Hata, M.
|
|
<strong>Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature.</strong>
|
|
Cell Stress Chaperones 5: 98-112, 2000.
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|
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[PubMed: 11147971]
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[Full Text: https://doi.org/10.1379/1466-1268(2000)005<0098:mhdhco>2.0.co;2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Yu, M., Haslam, R. H. A., Haslam, D. B.
|
|
<strong>HEDJ, an Hsp40 co-chaperone localized to the endoplasmic reticulum of human cells.</strong>
|
|
J. Biol. Chem. 275: 24984-24992, 2000.
|
|
|
|
|
|
[PubMed: 10827079]
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[Full Text: https://doi.org/10.1074/jbc.M000739200]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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|
</span>
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Matthew B. Gross - updated : 02/12/2021<br>Cassandra L. Kniffin - updated : 07/25/2018
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 8/16/2007
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</span>
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</div>
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</div>
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<br />
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
|
mgross : 02/12/2021<br>alopez : 02/09/2021<br>ckniffin : 01/26/2021<br>carol : 07/30/2018<br>carol : 07/27/2018<br>ckniffin : 07/25/2018<br>carol : 08/17/2007<br>carol : 8/17/2007
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