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<title>
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Entry
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- *604325 - PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA; PPP2R2B
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- OMIM
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<p>
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<span class="h4">*604325</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/604325">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000156475;t=ENST00000394411" 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=5521" 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=604325" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000156475;t=ENST00000394411" 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_001271899,NM_001271900,NM_001271948,NM_001428277,NM_001428279,NM_181674,NM_181675,NM_181676,NM_181677,NM_181678" 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_181675" 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=604325" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=05059&isoform_id=05059_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/PPP2R2B" 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/190424,190425,190426,231446,8248032,21619305,32307117,32307119,32307121,119582233,119582234,119582235,119582236,119582237,119582238,119582239,158260457,193786359,221040150,221040726,430727949,430727958,430727960,430727962,1825761149,2694681424,2694681440" 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/Q00005" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=5521" 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=ENSG00000156475;t=ENST00000394411" 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=PPP2R2B" 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=PPP2R2B" 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+5521" 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/PPP2R2B" 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:5521" 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/5521" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr5&hgg_gene=ENST00000394411.9&hgg_start=146580742&hgg_end=147081520&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604325[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604325[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/ENSG00000156475" 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=PPP2R2B" 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=PPP2R2B" 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=PPP2R2B" 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=PPP2R2B&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/PA33669" 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:9305" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0004889.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1920180" 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/PPP2R2B#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:1920180" 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/5521/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=5521" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00006352;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041010-39" 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">
|
|
<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">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5521" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=PPP2R2B&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 719208005<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
604325
|
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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>
|
|
<span class="mim-font">
|
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PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA; PPP2R2B
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
PP2APR55-BETA<br />
|
|
PP2AB55-BETA<br />
|
|
PP2AB-BETA<br />
|
|
PR55-BETA<br />
|
|
B55-BETA
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
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<div>
|
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<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PPP2R2B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PPP2R2B</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/5/633?start=-3&limit=10&highlight=633">5q32</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:146580742-147081520&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">5:146,580,742-147,081,520</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
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|
|
</span>
|
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</p>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/633?start=-3&limit=10&highlight=633">
|
|
5q32
|
|
</a>
|
|
</span>
|
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</td>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/radial/604325" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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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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<p>The PPP2R2B gene encodes a brain-specific regulatory subunit B of protein phosphatase 2. Protein phosphatase 2A (PP2A), a heterotrimeric serine/threonine phosphatase, has been implicated in a variety of regulatory processes, including cell growth and division, muscle contraction, and gene transcription. PP2A is composed of a 36-kD catalytic subunit (<a href="/entry/176915">176915</a>), a highly homologous 65-kD structural subunit (<a href="/entry/176915">176915</a>), and any of several different regulatory subunits that control its specificity, including PPP2R2B (<a href="#6" class="mim-tip-reference" title="Mayer, R. E., Hendrix, P., Cron, P., Matthies, R., Stone, S. R., Goris, J., Merlevede, W., Hofsteenge, J., Hemmings, B. A. <strong>Structure of the 55-kDa regulatory subunit of protein phosphatase 2A: evidence for a neuronal-specific isoform.</strong> Biochemistry 30: 3589-3597, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1849734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1849734</a>] [<a href="https://doi.org/10.1021/bi00229a001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1849734">Mayer et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1849734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By screening lung fibroblast and fetal brain cDNA libraries using 2 overlapping oligonucleotides corresponding to a tryptic peptide derived from the 55-kD subunit of rabbit PP2A (PR55), <a href="#6" class="mim-tip-reference" title="Mayer, R. E., Hendrix, P., Cron, P., Matthies, R., Stone, S. R., Goris, J., Merlevede, W., Hofsteenge, J., Hemmings, B. A. <strong>Structure of the 55-kDa regulatory subunit of protein phosphatase 2A: evidence for a neuronal-specific isoform.</strong> Biochemistry 30: 3589-3597, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1849734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1849734</a>] [<a href="https://doi.org/10.1021/bi00229a001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1849734">Mayer et al. (1991)</a> isolated human cDNAs encoding PPP2R2A (<a href="/entry/604941">604941</a>) and PPP2R2B, which they termed PR55-alpha and PR55-beta, respectively. Sequence analysis indicated that the PPP2R2B gene encodes a deduced 443-amino acid protein of approximately 52 kD. The nucleotide sequence of PPP2R2B is 75% identical to PPP2R2A in the coding region. Northern blot analysis detected strong expression of an approximately 2.5-kb PPP2R2A transcript in a neuroblastoma cell line but weak or no expression in other neuroblastoma and tumor cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1849734" 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>Using deletion/site-directed mutagenesis, cDNA overexpression assays, DNA pull-down and chromatin immunoprecipitation assays, and in silico analysis, <a href="#5" class="mim-tip-reference" title="Lin, C.-H., Chen, C.-M., Hou, Y.-T., Wu, Y.-R., Hsieh-Li, H.-M., Su, M.-T., Lee-Chen, G.-J. <strong>The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression.</strong> Hum. Genet. 128: 205-212, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20533062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20533062</a>] [<a href="https://doi.org/10.1007/s00439-010-0843-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20533062">Lin et al. (2010)</a> found that CREB1 (<a href="/entry/123810">123810</a>) and SP1 (<a href="/entry/189906">189906</a>) upregulate PPP2R2B expression by binding to conserved sequences upstream of the polymorphic CAG repeat site, whereas TFAP4 (<a href="/entry/600743">600743</a>) binds downstream of the CAG repeats to downregulate PPP2R2B expression. The CAG repeats themselves also function as a cis element to upregulate PPP2R2B expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20533062" 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="#11" class="mim-tip-reference" title="Schols, L., Amoiridis, G., Buttner, T., Przuntek, H., Epplen, J. T., Riess, O. <strong>Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?</strong> Ann. Neurol. 42: 924-932, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9403486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9403486</a>] [<a href="https://doi.org/10.1002/ana.410420615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9403486">Schols et al. (1997)</a> identified a novel form of autosomal dominant spinocerebellar ataxia (SCA), termed SCA12 (<a href="/entry/604326">604326</a>), in a large pedigree, 'R,' of German descent. The phenotype was variable, but the prototypic phenotype was that of a classic spinocerebellar ataxia, and the disease resembled the spinocerebellar ataxias more closely than any other form of neurodegenerative disorder. <a href="#4" class="mim-tip-reference" title="Holmes, S. E., O'Hearn, E. E., McInnis, M. G., Gorelick-Feldman, D. A., Kleiderlein, J. J., Callahan, C., Kwak, N. G., Ingersoll-Ashworth, R. G., Sherr, M., Sumner, A. J., Sharp, A. H., Ananth, U., Seltzer, W. K., Boss, M. A., Vieria-Saecker, A.-M., Epplen, J. T., Riess, O., Ross, C. A., Margolis, R. L. <strong>Expansion of a novel CAG trinucleotide repeat in the 5-prime region of PPP2R2B is associated with SCA12. (Letter)</strong> Nature Genet. 23: 391-392, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581021</a>] [<a href="https://doi.org/10.1038/70493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581021">Holmes et al. (1999)</a> used repeat expansion detection (RED), as described by <a href="#10" class="mim-tip-reference" title="Schalling, M., Hudson, T. J., Buetow, K. H., Housman, D. E. <strong>Direct detection of novel expanded trinucleotide repeats in the human genome.</strong> Nature Genet. 4: 135-139, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8348150/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8348150</a>] [<a href="https://doi.org/10.1038/ng0693-135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8348150">Schalling et al. (1993)</a>, to identify an expanded CAG repeat (<a href="#0001">604325.0001</a>) in the proband and other affected family members with SCA12. From the proband, they cloned a 2.5-kb genomic clone that contained a repeat of 93 uninterrupted CAGs. The CAG tract lies 133 nucleotides upstream of the reported transcription start site of the PPP2R2B gene, encoding a brain-specific regulatory subunit of the protein phosphatase PP2A. The PPP2R2B gene had been mapped to 5q31-q33 between markers D5S436 and D5S470. The region surrounding the CAG tract showed no homology with any additional genes in the EST database. Although the possibility that the CAG tract may lie within an unidentified gene overlapping or adjacent to PPP2R2B could not be excluded, an antibody probe did not detect polyglutamine expansions in protein derived from lymphoblastoid cell lines of affected family members. The correlation between repeat expansion and disease in pedigree R, the lack of expansions in controls, and the known capacity of expansion mutations outside of protein-coding regions to cause disease indicated that the expansion was causative. Although the precise role of the subunit encoded by PPP2R2B remained to be determined, the trimeric holoenzyme PP2A had been implicated in a number of cellular functions (<a href="#8" class="mim-tip-reference" title="Millward, T. A., Zolnierowicz, S., Hemmings, B. A. <strong>Regulation of protein kinase cascades by protein phosphatase 2A.</strong> Trends Biochem. Sci. 24: 186-191, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10322434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10322434</a>] [<a href="https://doi.org/10.1016/s0968-0004(99)01375-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10322434">Millward et al., 1999</a>), including modulation of cell cycle progression (<a href="#7" class="mim-tip-reference" title="Mayer-Jaekel, R. E., Ohkura, H., Gomes, R., Sunkel, C. E., Baumgartner, S., Hemmings, B. A., Glover, D. M. <strong>The 55 kd regulatory subunit of Drosophila protein phosphatase 2A is required for anaphase.</strong> Cell 72: 621-633, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8382567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8382567</a>] [<a href="https://doi.org/10.1016/0092-8674(93)90080-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8382567">Mayer-Jaekel et al., 1993</a>), tau phosphorylation (<a href="#12" class="mim-tip-reference" title="Sontag, E., Nunbhakdi-Craig, V., Lee, G., Brandt, R., Kamibayashi, C., Kuret, J., White, C. L., III, Mumby, M. C., Bloom, G. S. <strong>Molecular interactions among protein phosphatase 2A, tau, and microtubules.</strong> J. Biol. Chem. 274: 25490-25498, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10464280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10464280</a>] [<a href="https://doi.org/10.1074/jbc.274.36.25490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10464280">Sontag et al., 1999</a>), and apoptosis (<a href="#2" class="mim-tip-reference" title="Deng, X., Ito, T., Carr, B., Mumby, M., May, W. S., Jr. <strong>Reversible phosphorylation of Bcl2 following interleukin 3 or bryostatin 1 is mediated by direct interaction with protein phosphatase 2A.</strong> J. Biol. Chem. 273: 34157-34163, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9852076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9852076</a>] [<a href="https://doi.org/10.1074/jbc.273.51.34157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9852076">Deng et al., 1998</a>; <a href="#9" class="mim-tip-reference" title="Santoro, M. F., Annand, R. R., Robertson, M. M., Peng, Y.-W., Brady, M. J., Mankovich, J. A., Hackett, M. C., Ghayur, T., Walter, G., Wong, W. W., Giegel, D. A. <strong>Regulation of protein phosphatase 2A activity by caspase-3 during apoptosis.</strong> J. Biol. Chem. 273: 13119-13128, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582351</a>] [<a href="https://doi.org/10.1074/jbc.273.21.13119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9582351">Santoro et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10322434+9403486+9852076+9582351+10581021+8382567+8348150+10464280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604325[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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PPP2R2B, (CAG)n REPEAT EXPANSION
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<p>In a large pedigree, 'R,' of German descent with SCA12 (<a href="/entry/604326">604326</a>) described by <a href="#11" class="mim-tip-reference" title="Schols, L., Amoiridis, G., Buttner, T., Przuntek, H., Epplen, J. T., Riess, O. <strong>Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?</strong> Ann. Neurol. 42: 924-932, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9403486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9403486</a>] [<a href="https://doi.org/10.1002/ana.410420615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9403486">Schols et al. (1997)</a>, <a href="#4" class="mim-tip-reference" title="Holmes, S. E., O'Hearn, E. E., McInnis, M. G., Gorelick-Feldman, D. A., Kleiderlein, J. J., Callahan, C., Kwak, N. G., Ingersoll-Ashworth, R. G., Sherr, M., Sumner, A. J., Sharp, A. H., Ananth, U., Seltzer, W. K., Boss, M. A., Vieria-Saecker, A.-M., Epplen, J. T., Riess, O., Ross, C. A., Margolis, R. L. <strong>Expansion of a novel CAG trinucleotide repeat in the 5-prime region of PPP2R2B is associated with SCA12. (Letter)</strong> Nature Genet. 23: 391-392, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581021</a>] [<a href="https://doi.org/10.1038/70493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581021">Holmes et al. (1999)</a> used repeat expansion detection (RED) to identify an expanded CAG repeat in the 5-prime region of the PPP2R2B gene in the proband and other affected family members. From the proband, they cloned a 2.5-kb genomic clone that contained a repeat of 93 uninterrupted CAGs. All 10 affected family members still living had a repeat expansion. They also tested 8 unaffected offspring of affected family members, 5 older than age 60 years and 3 aged 42 to 49 years. Seven lacked an expansion and a 49-year-old, with no signs or symptoms of SCA12, had an expansion. There was no apparent correlation between repeat size and age of onset, although the range of expanded alleles was relatively narrow (66 to 78 repeats) and the precise age of onset of tremor, typically the first symptom, was difficult to define in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9403486+10581021" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a screening of 145 families with autosomal dominant cerebellar ataxia, <a href="#3" class="mim-tip-reference" title="Fujigasaki, H., Verma, I. C., Camuzat, A., Margolis, R. L., Zander, C., Lebre, A.-S., Jamot, L., Saxena, R., Anand, I., Holmes, S. E., Ross, C. A., Durr, A., Brice, A. <strong>SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family.</strong> Ann. Neurol. 49: 117-121, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11198281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11198281</a>]" pmid="11198281">Fujigasaki et al. (2001)</a> identified a family from India with the CAG repeat expansion in the PPP2R2B gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11198281" 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>Among 20 families from northern India with SCA12, <a href="#1" class="mim-tip-reference" title="Bahl, S., Virdi, K., Mittal, U., Sachdeva, M. P., Kalla, A. K., Holmes, S. E., O'Hearn, E., Margolis, R. L., Jain, S., Srivastava, A. K., Mukerji, M. <strong>Evidence of a common founder for SCA12 in the Indian population.</strong> Ann. Hum. Genet. 69: 528-534, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16138911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16138911</a>] [<a href="https://doi.org/10.1046/j.1529-8817.2005.00173.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16138911">Bahl et al. (2005)</a> identified expanded CAG repeats ranging from 51 to 69 triplets. Unaffected individuals had repeats ranging from 8 to 23 triplets. Of note, 1 asymptomatic individual was homozygous for an expanded repeat (52 and 59 triplets). Haplotype analysis identified 1 haplotype that was associated with the disease alleles, indicating a common founder. <a href="#1" class="mim-tip-reference" title="Bahl, S., Virdi, K., Mittal, U., Sachdeva, M. P., Kalla, A. K., Holmes, S. E., O'Hearn, E., Margolis, R. L., Jain, S., Srivastava, A. K., Mukerji, M. <strong>Evidence of a common founder for SCA12 in the Indian population.</strong> Ann. Hum. Genet. 69: 528-534, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16138911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16138911</a>] [<a href="https://doi.org/10.1046/j.1529-8817.2005.00173.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16138911">Bahl et al. (2005)</a> estimated that SCA12 accounts for about 16% of all ADCA cases in northern India. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16138911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In in vitro studies, <a href="#5" class="mim-tip-reference" title="Lin, C.-H., Chen, C.-M., Hou, Y.-T., Wu, Y.-R., Hsieh-Li, H.-M., Su, M.-T., Lee-Chen, G.-J. <strong>The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression.</strong> Hum. Genet. 128: 205-212, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20533062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20533062</a>] [<a href="https://doi.org/10.1007/s00439-010-0843-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20533062">Lin et al. (2010)</a> demonstrated that expanded CAG repeats in the 5-prime region of the PPP2R2B gene caused increased gene expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20533062" 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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Bahl, S., Virdi, K., Mittal, U., Sachdeva, M. P., Kalla, A. K., Holmes, S. E., O'Hearn, E., Margolis, R. L., Jain, S., Srivastava, A. K., Mukerji, M.
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<strong>Evidence of a common founder for SCA12 in the Indian population.</strong>
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Ann. Hum. Genet. 69: 528-534, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16138911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16138911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16138911" 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/10.1046/j.1529-8817.2005.00173.x" target="_blank">Full Text</a>]
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Fujigasaki, H., Verma, I. C., Camuzat, A., Margolis, R. L., Zander, C., Lebre, A.-S., Jamot, L., Saxena, R., Anand, I., Holmes, S. E., Ross, C. A., Durr, A., Brice, A.
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<strong>SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family.</strong>
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Ann. Neurol. 49: 117-121, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11198281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11198281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11198281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Holmes, S. E., O'Hearn, E. E., McInnis, M. G., Gorelick-Feldman, D. A., Kleiderlein, J. J., Callahan, C., Kwak, N. G., Ingersoll-Ashworth, R. G., Sherr, M., Sumner, A. J., Sharp, A. H., Ananth, U., Seltzer, W. K., Boss, M. A., Vieria-Saecker, A.-M., Epplen, J. T., Riess, O., Ross, C. A., Margolis, R. L.
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<strong>Expansion of a novel CAG trinucleotide repeat in the 5-prime region of PPP2R2B is associated with SCA12. (Letter)</strong>
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Nature Genet. 23: 391-392, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581021</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581021" 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/10.1038/70493" target="_blank">Full Text</a>]
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Lin, C.-H., Chen, C.-M., Hou, Y.-T., Wu, Y.-R., Hsieh-Li, H.-M., Su, M.-T., Lee-Chen, G.-J.
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<strong>The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression.</strong>
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Hum. Genet. 128: 205-212, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20533062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20533062</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20533062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(93)90080-a" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8348150/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8348150</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8348150" 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/10.1038/ng0693-135" target="_blank">Full Text</a>]
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Schols, L., Amoiridis, G., Buttner, T., Przuntek, H., Epplen, J. T., Riess, O.
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<strong>Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?</strong>
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Ann. Neurol. 42: 924-932, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9403486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9403486</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9403486" 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/10.1002/ana.410420615" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Sontag1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sontag, E., Nunbhakdi-Craig, V., Lee, G., Brandt, R., Kamibayashi, C., Kuret, J., White, C. L., III, Mumby, M. C., Bloom, G. S.
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<strong>Molecular interactions among protein phosphatase 2A, tau, and microtubules.</strong>
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J. Biol. Chem. 274: 25490-25498, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10464280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10464280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10464280" 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.274.36.25490" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/6/2011
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/6/2010<br>Victor A. McKusick - updated : 2/22/2002<br>Paul J. Converse - updated : 5/10/2000
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 11/30/1999
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alopez : 10/31/2019
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alopez : 10/04/2016<br>carol : 10/06/2011<br>ckniffin : 10/6/2011<br>wwang : 4/6/2010<br>ckniffin : 3/30/2010<br>wwang : 4/23/2008<br>mgross : 12/1/2006<br>carol : 3/11/2002<br>cwells : 3/5/2002<br>terry : 2/22/2002<br>terry : 12/7/2001<br>mgross : 5/10/2000<br>terry : 2/28/2000<br>alopez : 11/30/1999
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<strong>*</strong> 604325
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PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA; PPP2R2B
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PP2APR55-BETA<br />
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PP2AB55-BETA<br />
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PP2AB-BETA<br />
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PR55-BETA<br />
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B55-BETA
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PPP2R2B</em></strong>
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<strong>SNOMEDCT:</strong> 719208005;
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Cytogenetic location: 5q32
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:146,580,742-147,081,520 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<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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Phenotype <br /> mapping key
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5q32
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Spinocerebellar ataxia 12
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<span class="mim-font">
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604326
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Autosomal dominant
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>The PPP2R2B gene encodes a brain-specific regulatory subunit B of protein phosphatase 2. Protein phosphatase 2A (PP2A), a heterotrimeric serine/threonine phosphatase, has been implicated in a variety of regulatory processes, including cell growth and division, muscle contraction, and gene transcription. PP2A is composed of a 36-kD catalytic subunit (176915), a highly homologous 65-kD structural subunit (176915), and any of several different regulatory subunits that control its specificity, including PPP2R2B (Mayer et al., 1991). </p>
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<strong>Cloning and Expression</strong>
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<p>By screening lung fibroblast and fetal brain cDNA libraries using 2 overlapping oligonucleotides corresponding to a tryptic peptide derived from the 55-kD subunit of rabbit PP2A (PR55), Mayer et al. (1991) isolated human cDNAs encoding PPP2R2A (604941) and PPP2R2B, which they termed PR55-alpha and PR55-beta, respectively. Sequence analysis indicated that the PPP2R2B gene encodes a deduced 443-amino acid protein of approximately 52 kD. The nucleotide sequence of PPP2R2B is 75% identical to PPP2R2A in the coding region. Northern blot analysis detected strong expression of an approximately 2.5-kb PPP2R2A transcript in a neuroblastoma cell line but weak or no expression in other neuroblastoma and tumor cell lines. </p>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Using deletion/site-directed mutagenesis, cDNA overexpression assays, DNA pull-down and chromatin immunoprecipitation assays, and in silico analysis, Lin et al. (2010) found that CREB1 (123810) and SP1 (189906) upregulate PPP2R2B expression by binding to conserved sequences upstream of the polymorphic CAG repeat site, whereas TFAP4 (600743) binds downstream of the CAG repeats to downregulate PPP2R2B expression. The CAG repeats themselves also function as a cis element to upregulate PPP2R2B expression. </p>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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<span class="mim-text-font">
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<p>Schols et al. (1997) identified a novel form of autosomal dominant spinocerebellar ataxia (SCA), termed SCA12 (604326), in a large pedigree, 'R,' of German descent. The phenotype was variable, but the prototypic phenotype was that of a classic spinocerebellar ataxia, and the disease resembled the spinocerebellar ataxias more closely than any other form of neurodegenerative disorder. Holmes et al. (1999) used repeat expansion detection (RED), as described by Schalling et al. (1993), to identify an expanded CAG repeat (604325.0001) in the proband and other affected family members with SCA12. From the proband, they cloned a 2.5-kb genomic clone that contained a repeat of 93 uninterrupted CAGs. The CAG tract lies 133 nucleotides upstream of the reported transcription start site of the PPP2R2B gene, encoding a brain-specific regulatory subunit of the protein phosphatase PP2A. The PPP2R2B gene had been mapped to 5q31-q33 between markers D5S436 and D5S470. The region surrounding the CAG tract showed no homology with any additional genes in the EST database. Although the possibility that the CAG tract may lie within an unidentified gene overlapping or adjacent to PPP2R2B could not be excluded, an antibody probe did not detect polyglutamine expansions in protein derived from lymphoblastoid cell lines of affected family members. The correlation between repeat expansion and disease in pedigree R, the lack of expansions in controls, and the known capacity of expansion mutations outside of protein-coding regions to cause disease indicated that the expansion was causative. Although the precise role of the subunit encoded by PPP2R2B remained to be determined, the trimeric holoenzyme PP2A had been implicated in a number of cellular functions (Millward et al., 1999), including modulation of cell cycle progression (Mayer-Jaekel et al., 1993), tau phosphorylation (Sontag et al., 1999), and apoptosis (Deng et al., 1998; Santoro et al., 1998). </p>
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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>1 Selected Example):</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 SPINOCEREBELLAR ATAXIA 12</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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PPP2R2B, (CAG)n REPEAT EXPANSION
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<br />
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ClinVar: RCV000005966
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a large pedigree, 'R,' of German descent with SCA12 (604326) described by Schols et al. (1997), Holmes et al. (1999) used repeat expansion detection (RED) to identify an expanded CAG repeat in the 5-prime region of the PPP2R2B gene in the proband and other affected family members. From the proband, they cloned a 2.5-kb genomic clone that contained a repeat of 93 uninterrupted CAGs. All 10 affected family members still living had a repeat expansion. They also tested 8 unaffected offspring of affected family members, 5 older than age 60 years and 3 aged 42 to 49 years. Seven lacked an expansion and a 49-year-old, with no signs or symptoms of SCA12, had an expansion. There was no apparent correlation between repeat size and age of onset, although the range of expanded alleles was relatively narrow (66 to 78 repeats) and the precise age of onset of tremor, typically the first symptom, was difficult to define in this disorder. </p><p>In a screening of 145 families with autosomal dominant cerebellar ataxia, Fujigasaki et al. (2001) identified a family from India with the CAG repeat expansion in the PPP2R2B gene. </p><p>Among 20 families from northern India with SCA12, Bahl et al. (2005) identified expanded CAG repeats ranging from 51 to 69 triplets. Unaffected individuals had repeats ranging from 8 to 23 triplets. Of note, 1 asymptomatic individual was homozygous for an expanded repeat (52 and 59 triplets). Haplotype analysis identified 1 haplotype that was associated with the disease alleles, indicating a common founder. Bahl et al. (2005) estimated that SCA12 accounts for about 16% of all ADCA cases in northern India. </p><p>In in vitro studies, Lin et al. (2010) demonstrated that expanded CAG repeats in the 5-prime region of the PPP2R2B gene caused increased gene expression. </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>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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Bahl, S., Virdi, K., Mittal, U., Sachdeva, M. P., Kalla, A. K., Holmes, S. E., O'Hearn, E., Margolis, R. L., Jain, S., Srivastava, A. K., Mukerji, M.
|
|
<strong>Evidence of a common founder for SCA12 in the Indian population.</strong>
|
|
Ann. Hum. Genet. 69: 528-534, 2005.
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[PubMed: 16138911]
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[Full Text: https://doi.org/10.1046/j.1529-8817.2005.00173.x]
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<li>
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<p class="mim-text-font">
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Deng, X., Ito, T., Carr, B., Mumby, M., May, W. S., Jr.
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<strong>Reversible phosphorylation of Bcl2 following interleukin 3 or bryostatin 1 is mediated by direct interaction with protein phosphatase 2A.</strong>
|
|
J. Biol. Chem. 273: 34157-34163, 1998.
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[PubMed: 9852076]
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[Full Text: https://doi.org/10.1074/jbc.273.51.34157]
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</p>
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<li>
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<p class="mim-text-font">
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