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Entry
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- *614151 - RING FINGER AND WD REPEAT DOMAINS-CONTAINING PROTEIN 3; RFWD3
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- OMIM
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<p>
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<span class="h4">*614151</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</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/614151">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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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000168411;t=ENST00000361070" 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=55159" 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=614151" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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<div 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=ENSG00000168411;t=ENST00000361070" 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_001370534,NM_001370535,NM_001370536,NM_001370537,NM_001370539,NM_001370540,NM_001370542,NM_001370543,NM_018124,XM_005256022,XM_006721228,XM_011523191,XM_017023391,XM_047434323,XM_047434324" 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_018124" 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=614151" 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://www.proteinatlas.org/search/RFWD3" 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/7022608,10434203,52632431,71052116,71143112,119616086,119616087,126253679,158255836,189055148,194383914,530424056,578829066,767990177,1034595124,1635577135,1635577144,1635577146,1635577169,1635577187,1635577197,1635577201,1635577217,2217306560,2217306564,2462549656,2462549658,2462549660,2462549662,2462549664,2462549666" 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/Q6PCD5" 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=55159" 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=ENSG00000168411;t=ENST00000361070" 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=RFWD3" 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=RFWD3" 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+55159" 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/RFWD3" 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:55159" 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/55159" 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=chr16&hgg_gene=ENST00000361070.9&hgg_start=74621399&hgg_end=74666877&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614151[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 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=614151[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/ENSG00000168411" 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=RFWD3" 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=RFWD3" 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=RFWD3" 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=RFWD3&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/PA134960063" 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:25539" 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://www.mousephenotype.org/data/genes/MGI:2384584" 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/RFWD3#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:2384584" 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/55159/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=55159" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-120529-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=RFWD3&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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614151
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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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RING FINGER AND WD REPEAT DOMAINS-CONTAINING PROTEIN 3; RFWD3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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=RFWD3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RFWD3</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/16/638?start=-3&limit=10&highlight=638">16q23.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:74621399-74666877&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'})">16:74,621,399-74,666,877</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/16/638?start=-3&limit=10&highlight=638">
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16q23.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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?Fanconi anemia, complementation group W
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
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</span>
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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/617784"> 617784 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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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/614151" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/614151" 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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>RFWD3 is an E3 ubiquitin ligase that participates in DNA damage response in association with the replication protein A complex (see RPA1, <a href="/entry/179835">179835</a>) and by stabilizing p53 (TP53; <a href="/entry/191170">191170</a>) (summary by <a href="#5" class="mim-tip-reference" title="Liu, S., Chu, J., Yucer, N., Leng, M., Wang, S.-Y., Chen, B. P. C., Hittelman, W. N., Wang, Y. <strong>RING finger and WD repeat domain 3 (RFWD3) associates with replication protein A (RPA) and facilitates RPA-mediated DNA damage response.</strong> J. Biol. Chem. 286: 22314-22322, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21558276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21558276</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21558276[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/10.1074/jbc.M111.222802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21558276">Liu et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21558276" 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>
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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="cloning" class="mim-anchor"></a>
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<p><a href="#1" class="mim-tip-reference" title="Fu, X., Yucer, N., Liu, S., Li, M., Yi, P., Mu, J.-J., Yang, T., Chu, J., Jung, S. Y., O'Malley, B. W., Gu, W., Qin, J., Wang, Y. <strong>RFWD3-Mdm2 ubiquitin ligase complex positively regulates p53 stability in response to DNA damage.</strong> Proc. Nat. Acad. Sci. 107: 4579-4584, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20173098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20173098</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20173098[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/10.1073/pnas.0912094107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20173098">Fu et al. (2010)</a> cloned full-length human RFWD3 from a HeLa cell cDNA library. The deduced 774-amino acid protein contains an N-terminal SQ-rich region, followed by a RING domain, a coiled-coil domain, and a C-terminal WD40 domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20173098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Liu, S., Chu, J., Yucer, N., Leng, M., Wang, S.-Y., Chen, B. P. C., Hittelman, W. N., Wang, Y. <strong>RING finger and WD repeat domain 3 (RFWD3) associates with replication protein A (RPA) and facilitates RPA-mediated DNA damage response.</strong> J. Biol. Chem. 286: 22314-22322, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21558276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21558276</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21558276[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/10.1074/jbc.M111.222802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21558276">Liu et al. (2011)</a> found that the SQ-rich N-terminal domain of RFWD3, called an SSQ domain, is made up of 3 near perfect 17-amino acid repeats that includes the motif SSQ. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21558276" 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 unstressed cells, p53 is polyubiquitinated by the E3 ubiquitin ligase MDM2 (<a href="/entry/164785">164785</a>) and is targeted for proteolytic degradation. However, in response to DNA damage, p53 is stabilized and activates transcriptional programs essential for cell cycle arrest and apoptosis. <a href="#1" class="mim-tip-reference" title="Fu, X., Yucer, N., Liu, S., Li, M., Yi, P., Mu, J.-J., Yang, T., Chu, J., Jung, S. Y., O'Malley, B. W., Gu, W., Qin, J., Wang, Y. <strong>RFWD3-Mdm2 ubiquitin ligase complex positively regulates p53 stability in response to DNA damage.</strong> Proc. Nat. Acad. Sci. 107: 4579-4584, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20173098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20173098</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20173098[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/10.1073/pnas.0912094107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20173098">Fu et al. (2010)</a> found that RFWD3 stabilized p53 in response to DNA damage. RFWD3 formed a complex with MDM2 and p53 and synergized with MDM2 for monoubiquitination of p53, but the interaction restricted MDM2 from destabilizing p53 by extending the polyubiquitin chain. RFWD3 was also phosphorylated by the checkpoint kinases ATM (<a href="/entry/607585">607585</a>) and ATR (<a href="/entry/601215">601215</a>), which further enhanced p53 monoubiquitination after DNA damage. <a href="#1" class="mim-tip-reference" title="Fu, X., Yucer, N., Liu, S., Li, M., Yi, P., Mu, J.-J., Yang, T., Chu, J., Jung, S. Y., O'Malley, B. W., Gu, W., Qin, J., Wang, Y. <strong>RFWD3-Mdm2 ubiquitin ligase complex positively regulates p53 stability in response to DNA damage.</strong> Proc. Nat. Acad. Sci. 107: 4579-4584, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20173098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20173098</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20173098[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/10.1073/pnas.0912094107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20173098">Fu et al. (2010)</a> concluded that RFWD3 is an E3 ubiquitin ligase that stabilizes p53 when the G1 cell cycle checkpoint is activated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20173098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By tandem affinity purification of 293T cells, followed by mass spectrometric analysis, <a href="#2" class="mim-tip-reference" title="Gong, Z., Chen, J. <strong>E3 ligase RFWD3 participates in replication checkpoint control.</strong> J. Biol. Chem. 286: 22308-22313, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21504906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21504906</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21504906[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/10.1074/jbc.M111.222869" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21504906">Gong and Chen (2011)</a> found that RFWD3 copurified with the RPA complex, which binds and stabilizes single-stranded DNA at sites of DNA damage. In vitro pull-down assays revealed that RFWD3 specifically interacted with RPA2 (<a href="/entry/179836">179836</a>), but not with RPA1 or RPA3 (<a href="/entry/179837">179837</a>). Use of truncation and internal deletion mutants revealed that the coiled-coil domain of RFWD3 specifically interacted with a domain near the C terminus of RPA2. Immunohistochemical analysis revealed that RFWD3 colocalized with RPA2 at hydroxyurea-induced foci of DNA damage. Knockdown of RFWD3 via small interfering RNA caused failure to phosphorylate the checkpoint protein CHK1 (CHEK1; <a href="/entry/603078">603078</a>) following DNA damage. Failure to activate CHK1 was also observed with a RFWD3 mutant unable to interact with RPA2 and with a RFWD3 mutant lacking the E3 ubiquitin ligase RING domain. Loss of RFWD3 caused hypersensitivity to hydroxyurea. <a href="#2" class="mim-tip-reference" title="Gong, Z., Chen, J. <strong>E3 ligase RFWD3 participates in replication checkpoint control.</strong> J. Biol. Chem. 286: 22308-22313, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21504906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21504906</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21504906[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/10.1074/jbc.M111.222869" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21504906">Gong and Chen (2011)</a> concluded that the E3 ubiquitin ligase activity of RFWD3 is critical for replication checkpoint. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21504906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Liu, S., Chu, J., Yucer, N., Leng, M., Wang, S.-Y., Chen, B. P. C., Hittelman, W. N., Wang, Y. <strong>RING finger and WD repeat domain 3 (RFWD3) associates with replication protein A (RPA) and facilitates RPA-mediated DNA damage response.</strong> J. Biol. Chem. 286: 22314-22322, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21558276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21558276</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21558276[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/10.1074/jbc.M111.222802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21558276">Liu et al. (2011)</a> found that RFWD3 partly localized to PML (<a href="/entry/102578">102578</a>) nuclear storage bodies during S/G2 phase in normal growing human cells and translocated to sites of DNA damage in an RPA-dependent manner. RFWD3 directly interacted with RPA2 via its coiled-coil domain and WD40 repeats and required this interaction for accumulation at sites of DNA damage. Knockdown of either RFWD3 or RPA2 attenuated phosphorylation of both proteins. Loss of RFWD3 delayed RAD51 (<a href="/entry/179617">179617</a>) focus formation in response to replication block and correlated with persistence of RAD51 and phosphorylated H2AX (<a href="/entry/601772">601772</a>) foci, indicating defective DNA repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21558276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 8/5/2011."None>Hartz (2011)</a> mapped the RFWD3 gene to chromosome 16q23.1 based on an alignment of the RFWD3 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK001382</a>) with the genomic sequence (GRCh37).</p>
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<p>In a 12-year-old German girl (patient 1143), born of unrelated parents, with Fanconi anemia complementation group W (FANCW; <a href="/entry/617784">617784</a>), <a href="#4" class="mim-tip-reference" title="Knies, K., Inano, S., Ramirez, M. J., Ishiai, M., Surralles, J., Takata, M., Schindler, D. <strong>Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.</strong> J. Clin. Invest. 127: 3013-3027, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28691929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28691929</a>] [<a href="https://doi.org/10.1172/JCI92069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28691929">Knies et al. (2017)</a> identified compound heterozygous mutations in the RFWD3 gene (c.205_206dupCC, <a href="#0001">614151.0001</a> and I639K, <a href="#0002">614151.0002</a>). Patient cells showed increased chromosomal breakage, reduced survival, and cell cycle arrest in G2 following exposure to mitomycin C (MMC) and additional DNA cross-linking agents, and these defects could be restored by expression of wildtype RFWD3. The specific results suggested a defect in BRCA2 (<a href="/entry/600185">600185</a>)-dependent homologous recombination (HR). In vitro studies of the I639K variant indicated that it had less relocalization to the nucleus and to chromatin compared to wildtype, had disrupted physical interaction with RPA proteins (see, e.g., RPA2, <a href="/entry/179836">179836</a>), and caused impaired HR in transduced cells. Three different cellular models with generation of RFWD3 mutants recapitulated the defects observed in patient cells, indicating that RFWD3 normally promotes HR induced by DNA interstrand cross-links. <a href="#4" class="mim-tip-reference" title="Knies, K., Inano, S., Ramirez, M. J., Ishiai, M., Surralles, J., Takata, M., Schindler, D. <strong>Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.</strong> J. Clin. Invest. 127: 3013-3027, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28691929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28691929</a>] [<a href="https://doi.org/10.1172/JCI92069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28691929">Knies et al. (2017)</a> concluded that RFWD3 is positioned late in the FA/BRCA pathway, downstream of BRCA2/FANCD1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28691929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Knies, K., Inano, S., Ramirez, M. J., Ishiai, M., Surralles, J., Takata, M., Schindler, D. <strong>Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.</strong> J. Clin. Invest. 127: 3013-3027, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28691929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28691929</a>] [<a href="https://doi.org/10.1172/JCI92069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28691929">Knies et al. (2017)</a> found that Rfwd3-null mice were viable and did not show overt phenotypic abnormalities, although there was some evidence for increased embryonic lethality, earlier death, and subfertility, associated with testicular and ovarian atrophy in mutant mice. Mutant mouse embryonic fibroblasts were hypersensitive to DNA cross-linking agents and showed increased chromosomal breakage compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28691929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1205970095 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1205970095;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/rs1205970095?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=rs1205970095" 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=rs1205970095" 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=RCV000515639 OR RCV002525010" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515639, RCV002525010" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515639...</a>
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<p>In a 12-year-old German girl (patient 1143), born of unrelated parents, with Fanconi anemia complementation group W (FANCW; <a href="/entry/617784">617784</a>), <a href="#4" class="mim-tip-reference" title="Knies, K., Inano, S., Ramirez, M. J., Ishiai, M., Surralles, J., Takata, M., Schindler, D. <strong>Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.</strong> J. Clin. Invest. 127: 3013-3027, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28691929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28691929</a>] [<a href="https://doi.org/10.1172/JCI92069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28691929">Knies et al. (2017)</a> identified compound heterozygous mutations in the RFWD3 gene: a 2-bp duplication (c.205_206dupCC, NM_018124.3), resulting in a frameshift and premature termination (Leu69ProfsTer12) in the N-terminal region, and a c.1916T-A transversion, resulting in an ile639-to-lys (I639K; <a href="#0002">614151.0002</a>) substitution at a highly conserved residue in the WD40 domain, which is responsible for RPA2 (<a href="/entry/179836">179836</a>) binding. Neither mutation was found in the 1000 Genomes Project or the ExAC database. The c.205_206dupCC mutation was predicted to result in nonsense-mediated mRNA decay and a functionally null allele, since a truncated protein was not detected in patient cells. Patient cells showed increased chromosomal breakage following exposure to mitomycin C (MMC) and additional disruptive agents, and these defects could be restored by expression of wildtype RFWD3. The specific results suggested a defect in BRCA2 (<a href="/entry/600185">600185</a>)-dependent homologous recombination (HR). In vitro studies of the I639K variant indicated that it had less relocalization to the nucleus and to chromatin compared to wildtype as well as impaired interaction with RPA2, resulting in impaired HR in transduced cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28691929" 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 FANCONI ANEMIA, COMPLEMENTATION GROUP W (1 patient)</strong>
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RFWD3, ILE639LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555524842 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555524842;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=rs1555524842" 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=rs1555524842" 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=RCV000515641 OR RCV001194816" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000515641, RCV001194816" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000515641...</a>
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<p>For discussion of the c.1916T-A transversion (c.1916T-A, NM_018124.3) in the RFWD3 gene, resulting in an ile639-to-lys (I639K) substitution, that was found in compound heterozygous state in a patient with Fanconi anemia complementation group W (FANCW; <a href="/entry/617784">617784</a>) by <a href="#4" class="mim-tip-reference" title="Knies, K., Inano, S., Ramirez, M. J., Ishiai, M., Surralles, J., Takata, M., Schindler, D. <strong>Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.</strong> J. Clin. Invest. 127: 3013-3027, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28691929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28691929</a>] [<a href="https://doi.org/10.1172/JCI92069" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28691929">Knies et al. (2017)</a>, see <a href="#0001">614151.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28691929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</h4>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Fu2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fu, X., Yucer, N., Liu, S., Li, M., Yi, P., Mu, J.-J., Yang, T., Chu, J., Jung, S. Y., O'Malley, B. W., Gu, W., Qin, J., Wang, Y.
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<strong>RFWD3-Mdm2 ubiquitin ligase complex positively regulates p53 stability in response to DNA damage.</strong>
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Proc. Nat. Acad. Sci. 107: 4579-4584, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20173098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20173098</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20173098[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=20173098" 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/10.1073/pnas.0912094107" target="_blank">Full Text</a>]
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Gong2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gong, Z., Chen, J.
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<strong>E3 ligase RFWD3 participates in replication checkpoint control.</strong>
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J. Biol. Chem. 286: 22308-22313, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21504906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21504906</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21504906[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=21504906" 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.M111.222869" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Hartz2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/5/2011.
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<a id="4" class="mim-anchor"></a>
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<a id="Knies2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Knies, K., Inano, S., Ramirez, M. J., Ishiai, M., Surralles, J., Takata, M., Schindler, D.
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<strong>Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.</strong>
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J. Clin. Invest. 127: 3013-3027, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28691929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28691929</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28691929" 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/10.1172/JCI92069" target="_blank">Full Text</a>]
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<a id="Liu2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liu, S., Chu, J., Yucer, N., Leng, M., Wang, S.-Y., Chen, B. P. C., Hittelman, W. N., Wang, Y.
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<strong>RING finger and WD repeat domain 3 (RFWD3) associates with replication protein A (RPA) and facilitates RPA-mediated DNA damage response.</strong>
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J. Biol. Chem. 286: 22314-22322, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21558276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21558276</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21558276[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=21558276" 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.M111.222802" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/27/2017
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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 : 8/8/2011
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
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carol : 11/28/2017
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ckniffin : 11/27/2017<br>wwang : 08/08/2011
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<strong>*</strong> 614151
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RING FINGER AND WD REPEAT DOMAINS-CONTAINING PROTEIN 3; RFWD3
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Cytogenetic location: 16q23.1
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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<span class="mim-font">
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16q23.1
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?Fanconi anemia, complementation group W
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<span class="mim-font">
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617784
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<span class="mim-font">
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<strong>Description</strong>
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<p>RFWD3 is an E3 ubiquitin ligase that participates in DNA damage response in association with the replication protein A complex (see RPA1, 179835) and by stabilizing p53 (TP53; 191170) (summary by Liu et al., 2011). </p>
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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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<p>Fu et al. (2010) cloned full-length human RFWD3 from a HeLa cell cDNA library. The deduced 774-amino acid protein contains an N-terminal SQ-rich region, followed by a RING domain, a coiled-coil domain, and a C-terminal WD40 domain. </p><p>Liu et al. (2011) found that the SQ-rich N-terminal domain of RFWD3, called an SSQ domain, is made up of 3 near perfect 17-amino acid repeats that includes the motif SSQ. </p>
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<strong>Gene Function</strong>
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<p>In unstressed cells, p53 is polyubiquitinated by the E3 ubiquitin ligase MDM2 (164785) and is targeted for proteolytic degradation. However, in response to DNA damage, p53 is stabilized and activates transcriptional programs essential for cell cycle arrest and apoptosis. Fu et al. (2010) found that RFWD3 stabilized p53 in response to DNA damage. RFWD3 formed a complex with MDM2 and p53 and synergized with MDM2 for monoubiquitination of p53, but the interaction restricted MDM2 from destabilizing p53 by extending the polyubiquitin chain. RFWD3 was also phosphorylated by the checkpoint kinases ATM (607585) and ATR (601215), which further enhanced p53 monoubiquitination after DNA damage. Fu et al. (2010) concluded that RFWD3 is an E3 ubiquitin ligase that stabilizes p53 when the G1 cell cycle checkpoint is activated. </p><p>By tandem affinity purification of 293T cells, followed by mass spectrometric analysis, Gong and Chen (2011) found that RFWD3 copurified with the RPA complex, which binds and stabilizes single-stranded DNA at sites of DNA damage. In vitro pull-down assays revealed that RFWD3 specifically interacted with RPA2 (179836), but not with RPA1 or RPA3 (179837). Use of truncation and internal deletion mutants revealed that the coiled-coil domain of RFWD3 specifically interacted with a domain near the C terminus of RPA2. Immunohistochemical analysis revealed that RFWD3 colocalized with RPA2 at hydroxyurea-induced foci of DNA damage. Knockdown of RFWD3 via small interfering RNA caused failure to phosphorylate the checkpoint protein CHK1 (CHEK1; 603078) following DNA damage. Failure to activate CHK1 was also observed with a RFWD3 mutant unable to interact with RPA2 and with a RFWD3 mutant lacking the E3 ubiquitin ligase RING domain. Loss of RFWD3 caused hypersensitivity to hydroxyurea. Gong and Chen (2011) concluded that the E3 ubiquitin ligase activity of RFWD3 is critical for replication checkpoint. </p><p>Liu et al. (2011) found that RFWD3 partly localized to PML (102578) nuclear storage bodies during S/G2 phase in normal growing human cells and translocated to sites of DNA damage in an RPA-dependent manner. RFWD3 directly interacted with RPA2 via its coiled-coil domain and WD40 repeats and required this interaction for accumulation at sites of DNA damage. Knockdown of either RFWD3 or RPA2 attenuated phosphorylation of both proteins. Loss of RFWD3 delayed RAD51 (179617) focus formation in response to replication block and correlated with persistence of RAD51 and phosphorylated H2AX (601772) foci, indicating defective DNA repair. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Hartz (2011) mapped the RFWD3 gene to chromosome 16q23.1 based on an alignment of the RFWD3 sequence (GenBank AK001382) with the genomic sequence (GRCh37).</p>
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<h4>
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<strong>Molecular Genetics</strong>
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<p>In a 12-year-old German girl (patient 1143), born of unrelated parents, with Fanconi anemia complementation group W (FANCW; 617784), Knies et al. (2017) identified compound heterozygous mutations in the RFWD3 gene (c.205_206dupCC, 614151.0001 and I639K, 614151.0002). Patient cells showed increased chromosomal breakage, reduced survival, and cell cycle arrest in G2 following exposure to mitomycin C (MMC) and additional DNA cross-linking agents, and these defects could be restored by expression of wildtype RFWD3. The specific results suggested a defect in BRCA2 (600185)-dependent homologous recombination (HR). In vitro studies of the I639K variant indicated that it had less relocalization to the nucleus and to chromatin compared to wildtype, had disrupted physical interaction with RPA proteins (see, e.g., RPA2, 179836), and caused impaired HR in transduced cells. Three different cellular models with generation of RFWD3 mutants recapitulated the defects observed in patient cells, indicating that RFWD3 normally promotes HR induced by DNA interstrand cross-links. Knies et al. (2017) concluded that RFWD3 is positioned late in the FA/BRCA pathway, downstream of BRCA2/FANCD1. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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<span class="mim-text-font">
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<p>Knies et al. (2017) found that Rfwd3-null mice were viable and did not show overt phenotypic abnormalities, although there was some evidence for increased embryonic lethality, earlier death, and subfertility, associated with testicular and ovarian atrophy in mutant mice. Mutant mouse embryonic fibroblasts were hypersensitive to DNA cross-linking agents and showed increased chromosomal breakage compared to controls. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 FANCONI ANEMIA, COMPLEMENTATION GROUP W (1 patient)</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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RFWD3, 2-BP DUP, 205CC
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<br />
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SNP: rs1205970095,
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gnomAD: rs1205970095,
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ClinVar: RCV000515639, RCV002525010
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 12-year-old German girl (patient 1143), born of unrelated parents, with Fanconi anemia complementation group W (FANCW; 617784), Knies et al. (2017) identified compound heterozygous mutations in the RFWD3 gene: a 2-bp duplication (c.205_206dupCC, NM_018124.3), resulting in a frameshift and premature termination (Leu69ProfsTer12) in the N-terminal region, and a c.1916T-A transversion, resulting in an ile639-to-lys (I639K; 614151.0002) substitution at a highly conserved residue in the WD40 domain, which is responsible for RPA2 (179836) binding. Neither mutation was found in the 1000 Genomes Project or the ExAC database. The c.205_206dupCC mutation was predicted to result in nonsense-mediated mRNA decay and a functionally null allele, since a truncated protein was not detected in patient cells. Patient cells showed increased chromosomal breakage following exposure to mitomycin C (MMC) and additional disruptive agents, and these defects could be restored by expression of wildtype RFWD3. The specific results suggested a defect in BRCA2 (600185)-dependent homologous recombination (HR). In vitro studies of the I639K variant indicated that it had less relocalization to the nucleus and to chromatin compared to wildtype as well as impaired interaction with RPA2, resulting in impaired HR in transduced cells. </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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<h4>
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<span class="mim-font">
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<strong>.0002 FANCONI ANEMIA, COMPLEMENTATION GROUP W (1 patient)</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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RFWD3, ILE639LYS
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<br />
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SNP: rs1555524842,
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ClinVar: RCV000515641, RCV001194816
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.1916T-A transversion (c.1916T-A, NM_018124.3) in the RFWD3 gene, resulting in an ile639-to-lys (I639K) substitution, that was found in compound heterozygous state in a patient with Fanconi anemia complementation group W (FANCW; 617784) by Knies et al. (2017), see 614151.0001. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Fu, X., Yucer, N., Liu, S., Li, M., Yi, P., Mu, J.-J., Yang, T., Chu, J., Jung, S. Y., O'Malley, B. W., Gu, W., Qin, J., Wang, Y.
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<strong>RFWD3-Mdm2 ubiquitin ligase complex positively regulates p53 stability in response to DNA damage.</strong>
|
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Proc. Nat. Acad. Sci. 107: 4579-4584, 2010.
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[PubMed: 20173098]
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[Full Text: https://doi.org/10.1073/pnas.0912094107]
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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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Gong, Z., Chen, J.
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<strong>E3 ligase RFWD3 participates in replication checkpoint control.</strong>
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J. Biol. Chem. 286: 22308-22313, 2011.
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[PubMed: 21504906]
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[Full Text: https://doi.org/10.1074/jbc.M111.222869]
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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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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/5/2011.
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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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Knies, K., Inano, S., Ramirez, M. J., Ishiai, M., Surralles, J., Takata, M., Schindler, D.
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<strong>Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.</strong>
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J. Clin. Invest. 127: 3013-3027, 2017.
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[PubMed: 28691929]
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[Full Text: https://doi.org/10.1172/JCI92069]
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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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Liu, S., Chu, J., Yucer, N., Leng, M., Wang, S.-Y., Chen, B. P. C., Hittelman, W. N., Wang, Y.
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<strong>RING finger and WD repeat domain 3 (RFWD3) associates with replication protein A (RPA) and facilitates RPA-mediated DNA damage response.</strong>
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J. Biol. Chem. 286: 22314-22322, 2011.
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[PubMed: 21558276]
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[Full Text: https://doi.org/10.1074/jbc.M111.222802]
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</p>
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</li>
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</ol>
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<div>
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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>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/27/2017
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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 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 : 8/8/2011
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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">
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carol : 11/28/2017<br>ckniffin : 11/27/2017<br>wwang : 08/08/2011
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