2983 lines
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Entry
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- *603157 - PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 2; PIK3R2
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- OMIM
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<p>
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<span class="h4">*603157</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</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>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603157">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 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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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000105647;t=ENST00000222254" 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=5296" 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=603157" 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=ENSG00000105647;t=ENST00000222254" 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_005027,NR_073517,NR_162071" 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_005027" 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=603157" 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=04404&isoform_id=04404_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/PIK3R2" 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/2160048,4558641,40226308,40226343,47682978,59862087,116283839,119605065,119605066,317373311,1519315795" 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/O00459" 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=5296" 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=ENSG00000105647;t=ENST00000222254" 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=PIK3R2" 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=PIK3R2" 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+5296" 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/PIK3R2" 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:5296" 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/5296" 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=chr19&hgg_gene=ENST00000593731.1&hgg_start=18153163&hgg_end=18170532&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8980" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:8980" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/pik3r2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603157[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=603157[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PIK3R2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000105647" 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=PIK3R2" 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=PIK3R2" 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=PIK3R2" 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=PIK3R2&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/PA33313" 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:8980" 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/FBgn0020622.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:1098772" 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/PIK3R2#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:1098772" 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/5296/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=5296" 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=WBGene00000001;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-040309-1" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5296" 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=PIK3R2&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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603157
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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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PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 2; PIK3R2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT, 85-KD, BETA<br />
|
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p85-BETA
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</span>
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</h4>
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</div>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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PIK3R2/UPS8 FUSION GENE, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PIK3R2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PIK3R2</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/19/453?start=-3&limit=10&highlight=453">19p13.11</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:18153163-18170532&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'})">19:18,153,163-18,170,532</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">
|
|
<a href="/geneMap/19/453?start=-3&limit=10&highlight=453">
|
|
19p13.11
|
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</a>
|
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</span>
|
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</td>
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|
|
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<td>
|
|
<span class="mim-font">
|
|
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
|
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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/603387"> 603387 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<p>Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates the inositol ring of phosphatidylinositol and related compounds at the 3-prime position. The products of these reactions are thought to serve as second messengers in growth signaling pathways. The kinase itself is made up of a catalytic subunit of molecular mass 110 kD (p110; e.g., PIK3CA, <a href="/entry/171834">171834</a>) and a regulatory subunit of molecular mass 85, 55, or 50 kD (summary by <a href="#2" class="mim-tip-reference" title="Hoyle, J., Yulug, I. G., Egan, S. E., Fisher, E. M. C. <strong>The gene that encodes the phosphatidylinositol-3 kinase regulatory subunit (p85-alpha) maps to chromosome 13 in the mouse.</strong> Genomics 24: 400-402, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7698770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7698770</a>] [<a href="https://doi.org/10.1006/geno.1994.1638" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7698770">Hoyle et al., 1994</a>; <a href="#3" class="mim-tip-reference" title="Janssen, J. W. G., Schleithoff, L., Bartram, C. R., Schulz, A. S. <strong>An oncogenic fusion product of the phosphatidylinositol 3-kinase p85-beta subunit and HUMORF8, a putative deubiquitinating enzyme.</strong> Oncogene 16: 1767-1772, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582025</a>] [<a href="https://doi.org/10.1038/sj.onc.1201695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9582025">Janssen et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9582025+7698770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Otsu, M., Hiles, I., Gout, I., Fry, M. J., Ruiz-Larrea, F., Panayotou, G., Thompson, A., Dhand, R., Hsuan, J., Totty, N., Smith, A. D., Morgan, S. J., Courtneidge, S. A., Parker, P. J., Waterfield, M. D. <strong>Characterization of two 85 kd proteins that associate with receptor tyrosine kinases, middle-T/pp60(c-src) complexes, and PI3-kinase.</strong> Cell 65: 91-104, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1707345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1707345</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90411-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1707345">Otsu et al. (1991)</a> showed that the bovine PI3K p85 subunit consists of 2 closely related proteins, p85-alpha (<a href="/entry/171833">171833</a>) and p85-beta. They cloned cDNAs encoding both p85 subunits, each of which is 724 amino acids long. The subunits share 62% amino acid identity across their entire length. Both sequences contain an N-terminal SH3 region, 2 SH2 regions, and a region of homology to BCR (<a href="/entry/151410">151410</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1707345" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Janssen, J. W. G., Schleithoff, L., Bartram, C. R., Schulz, A. S. <strong>An oncogenic fusion product of the phosphatidylinositol 3-kinase p85-beta subunit and HUMORF8, a putative deubiquitinating enzyme.</strong> Oncogene 16: 1767-1772, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582025</a>] [<a href="https://doi.org/10.1038/sj.onc.1201695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9582025">Janssen et al. (1998)</a> determined the human p85-beta cDNA sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582025" 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>Functional expression studies by <a href="#6" class="mim-tip-reference" title="Otsu, M., Hiles, I., Gout, I., Fry, M. J., Ruiz-Larrea, F., Panayotou, G., Thompson, A., Dhand, R., Hsuan, J., Totty, N., Smith, A. D., Morgan, S. J., Courtneidge, S. A., Parker, P. J., Waterfield, M. D. <strong>Characterization of two 85 kd proteins that associate with receptor tyrosine kinases, middle-T/pp60(c-src) complexes, and PI3-kinase.</strong> Cell 65: 91-104, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1707345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1707345</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90411-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1707345">Otsu et al. (1991)</a> showed that both bovine p85 subunits bound tyrosine kinase receptors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1707345" 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="#1" class="mim-tip-reference" title="Hale, B. G., Jackson, D., Chen, Y.-H., Lamb, R. A., Randall, R. E. <strong>Influenza A virus NS1 protein binds p85-beta and activates phosphatidylinositol-3-kinase signaling.</strong> Proc. Nat. Acad. Sci. 103: 14194-14199, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16963558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16963558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16963558[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.0606109103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16963558">Hale et al. (2006)</a> generated a laryngeal carcinoma cell line constitutively expressing influenza A virus NS1 protein and found that NS1 bound specifically to p85-beta. The NS1 protein from various influenza strains also bound p85-beta, but not p85-alpha. Expression of NS1 led to induction of PI3K signaling, including phosphorylation of AKT (<a href="/entry/164730">164730</a>) at ser473. Binding of p85-beta and activation of PI3K required tyr89 of NS1, and mutant viruses expressing NS1 with a tyr89-to-phe substitution grew more slowly in cell culture than wildtype viruses. <a href="#1" class="mim-tip-reference" title="Hale, B. G., Jackson, D., Chen, Y.-H., Lamb, R. A., Randall, R. E. <strong>Influenza A virus NS1 protein binds p85-beta and activates phosphatidylinositol-3-kinase signaling.</strong> Proc. Nat. Acad. Sci. 103: 14194-14199, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16963558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16963558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16963558[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.0606109103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16963558">Hale et al. (2006)</a> proposed that activation of PI3K signaling in influenza A virus-infected cells is important for efficient virus replication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16963558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using mouse embryonic fibroblasts, <a href="#7" class="mim-tip-reference" title="Park, S. W., Zhou, Y., Lee, J., Lu, A., Sun, C., Chung, J., Ueki, K., Ozcan, U. <strong>The regulatory subunits of PI3K, p85-alpha and p85-beta, interact with XBP-1 and increase its nuclear translocation.</strong> Nature Med. 16: 429-437, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20348926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20348926</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20348926[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/10.1038/nm.2099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20348926">Park et al. (2010)</a> showed that, in addition to regulating PI3K function, p85-alpha and p85-beta regulated the function of Xbp1s (XBP1; <a href="/entry/194355">194355</a>), a transcription factor that orchestrates the unfolded protein response (UPR) following endoplasmic reticulum (ER) stress. Both p85-alpha and p85-beta bound Xbp1s and increased its nuclear translocation, and it appeared that the p110 PI3K catalytic subunit and Xbp1s competed for binding of these regulatory subunits. p85-alpha and p85-beta formed an inactive dimer that was disrupted by insulin in a time-dependent manner, which promoted their association with Xbp1s. Refeeding of wildtype mice after fasting induced ER stress that was quickly resolved, as measured by Xbp1s levels. In contrast, obese and insulin-resistant ob/ob (LEP; <a href="/entry/164160">164160</a>) mice could not resolve the ER stress induced during refeeding, and nuclear translocation of Xbp1s was absent in ob/ob mice. Overexpression of p85-alpha or p85-beta in livers of ob/ob mice increased glucose tolerance and reduced blood glucose concentrations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20348926" 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>To assess the impact of the AKT3 (<a href="/entry/611223">611223</a>), PIK3R2, and PIK3CA mutations in individuals with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP; <a href="/entry/602501">602501</a>) and megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome-1 (MPPH1; <a href="/entry/603387">603387</a>) on PI3K activity, <a href="#8" class="mim-tip-reference" title="Riviere, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., and 29 others. <strong>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</strong> Nature Genet. 44: 934-940, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729224</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729224[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/10.1038/ng.2331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22729224">Riviere et al. (2012)</a> used immunostaining to compare PIP3 amounts in lymphoblastoid cell lines derived from 4 mutation carriers with megalencephaly to those in control and PTEN (<a href="/entry/601728">601728</a>)-mutant cells. Consistent with elevated PI3K activity, and similar to what is seen with PTEN loss, all 3 lines with PIK3R2 or PIK3CA mutations showed significantly more PIP3 staining than control cells, as well as greater localization of active phosphoinositide-dependent kinase-1 (PDPK1; <a href="/entry/605213">605213</a>) to the cell membrane. Treatment with the PI3K inhibitor PI-103 resulted in less PIP3 in the PIK3R2 G373R (<a href="#0001">603157.0001</a>) and PIK3CA E453del (<a href="/entry/171834#0014">171834.0014</a>) mutant lines, confirming that these results are PI3K-dependent. <a href="#8" class="mim-tip-reference" title="Riviere, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., and 29 others. <strong>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</strong> Nature Genet. 44: 934-940, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729224</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729224[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/10.1038/ng.2331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22729224">Riviere et al. (2012)</a> found no evidence for increased PI3K activity in the AKT3-mutant line, consistent with a mutation affecting a downstream effector of PI3K. Protein blot analysis showed higher amounts of phosphorylated S6 protein and 4E-BP1 in all mutant cell lines compared to controls. Although PI-103 treatment reduced S6 phosphorylation in control and mutant lines, the latter showed relative resistance to PI3K inhibition, consistent with elevated signaling through the pathway. <a href="#8" class="mim-tip-reference" title="Riviere, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., and 29 others. <strong>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</strong> Nature Genet. 44: 934-940, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729224</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729224[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/10.1038/ng.2331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22729224">Riviere et al. (2012)</a> concluded that the megalencephaly-associated mutations result in higher PI3K activity and PI3K-mTOR signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22729224" 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="#10" class="mim-tip-reference" title="Volinia, S., Patracchini, P., Otsu, M., Hiles, I., Gout, I., Calzolari, E., Bernardi, F., Rooke, L., Waterfield, M. D. <strong>Chromosomal localization of human p85-alpha, a subunit of phosphatidylinositol 3-kinase, and its homologue p85-beta.</strong> Oncogene 7: 789-793, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1314371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1314371</a>]" pmid="1314371">Volinia et al. (1992)</a> used in situ hybridization to map the PIK3R2 gene to human chromosome 19q13.2-q13.4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1314371" 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="Janssen, J. W. G., Schleithoff, L., Bartram, C. R., Schulz, A. S. <strong>An oncogenic fusion product of the phosphatidylinositol 3-kinase p85-beta subunit and HUMORF8, a putative deubiquitinating enzyme.</strong> Oncogene 16: 1767-1772, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582025</a>] [<a href="https://doi.org/10.1038/sj.onc.1201695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9582025">Janssen et al. (1998)</a> analyzed DNA from a patient with chronic myeloproliferative disorder. They identified an oncogenic fusion of the 5-prime end of p85-beta and the 3-prime end of HUMORF8 (USP8; <a href="/entry/603158">603158</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582025" 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="#8" class="mim-tip-reference" title="Riviere, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., and 29 others. <strong>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</strong> Nature Genet. 44: 934-940, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729224</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729224[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/10.1038/ng.2331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22729224">Riviere et al. (2012)</a> performed exome sequencing in the oldest of 3 affected sibs with MPPH1 and identified a heterozygous mutation in the PIK3R2 gene (G373R; <a href="#0001">603157.0001</a>). Sanger sequencing confirmed the presence of the mutation in all 3 affected sibs and its absence in the saliva and blood of both parents and the unaffected sister, showing germline mosaicism in 1 parent. Sequencing of the PIK3R2 gene in 40 individuals with megalencephaly identified the same nucleotide change in 10 additional subjects with MPPH, and this mutation was shown to be de novo in all subjects for whom parental DNA was available. The mutation occurred at a CpG dinucleotide, which might explain its recurrence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22729224" 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="#5" class="mim-tip-reference" title="Oak, J. S., Deane, J. A., Kharas, M. G., Luo, J., Lane, T. E., Cantley, L. C., Fruman, D. A. <strong>Sjogren's syndrome-like disease in mice with T cells lacking class 1A phosphoinositide-3-kinase.</strong> Proc. Nat. Acad. Sci. 103: 16882-16887, 2006. Note: Erratum: Proc. Nat. Acad. Sci. 106: 10871 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17071741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17071741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17071741[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.0607984103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17071741">Oak et al. (2006)</a> crossed mice with a floxed Pik3r1 allele and a null Pik3r2 allele with Lck (<a href="/entry/153390">153390</a>)-Cre transgenic mice to generate a strain in which class IA Pi3k expression and function were essentially abrogated in T cells beginning at the double-negative stage. Histopathologic analysis of these mice showed development of organ-specific autoimmunity resembling Sjogren syndrome (SS; <a href="/entry/270150">270150</a>). By 3 to 8 months of age, mutant mice developed corneal opacity and eye lesions due to irritation and constant scratching. Mutant mice showed marked lymphocytic infiltration of lacrimal glands and serum antinuclear and anti-Ssa (SSA1; <a href="/entry/109092">109092</a>) antibodies, but no kidney pathology. Cd4-positive T cells, which were the predominant infiltrating cells in lacrimal glands of mutant mice, exhibited aberrant differentiation in vitro. <a href="#5" class="mim-tip-reference" title="Oak, J. S., Deane, J. A., Kharas, M. G., Luo, J., Lane, T. E., Cantley, L. C., Fruman, D. A. <strong>Sjogren's syndrome-like disease in mice with T cells lacking class 1A phosphoinositide-3-kinase.</strong> Proc. Nat. Acad. Sci. 103: 16882-16887, 2006. Note: Erratum: Proc. Nat. Acad. Sci. 106: 10871 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17071741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17071741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17071741[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.0607984103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17071741">Oak et al. (2006)</a> concluded that impaired class IA PI3K signaling in T cells can lead to organ-specific autoimmunity, and they proposed that class IA Pi3k-deficient mice manifest the cardinal features of human primary SS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17071741" 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=603157[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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776934 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776934;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=rs587776934" 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=rs587776934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 13 individuals with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome-1 (MPPH1; <a href="/entry/603387">603387</a>) from 11 unrelated families, <a href="#8" class="mim-tip-reference" title="Riviere, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., and 29 others. <strong>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</strong> Nature Genet. 44: 934-940, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729224</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729224[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/10.1038/ng.2331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22729224">Riviere et al. (2012)</a> identified a heterozygous 1117G-A transition in the PIK3R2 gene, resulting in a gly373-to-arg (G373R) substitution in the PIK3R2 gene. This mutation was shown to be de novo in all subjects for whom parental DNA was available. The mutation occurred at a CpG dinucleotide, which might explain its recurrence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22729224" 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">rs587777624 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777624;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=rs587777624" 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=rs587777624" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an 8-year-old Japanese girl with MPPH1 (<a href="/entry/603387">603387</a>), <a href="#4" class="mim-tip-reference" title="Nakamura, K., Kato, M., Tohyama, J., Shiohama, T., Hayasaka, K., Nishiyama, K., Kodera, H., Nakashima, M., Tsurusaki, Y., Miyake, N., Matsumoto, N., Saitsu, H. <strong>AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. (Letter)</strong> Clin. Genet. 85: 396-298, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23745724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23745724</a>] [<a href="https://doi.org/10.1111/cge.12188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23745724">Nakamura et al. (2014)</a> identified a de novo heterozygous c.1202T-C transition in the PIK3R2 gene, resulting in a leu401-to-pro (L401P) substitution in the SH2 domain. The mutation, which was found by whole-exome sequencing, was not present in the Exome Sequencing Project database or in 144 in-house control exomes. Functional studies of the variant were not performed. The patient had previously been reported by <a href="#9" class="mim-tip-reference" title="Tohyama, J., Akasaka, N., Saito, N., Yoshimura, J., Nishiyama, K., Kato, M. <strong>Megalencephaly and polymicrogyria with polydactyly syndrome.</strong> Pediat. Neurol. 37: 148-151, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17675034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17675034</a>] [<a href="https://doi.org/10.1016/j.pediatrneurol.2007.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17675034">Tohyama et al. (2007)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23745724+17675034" 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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Hale, B. G., Jackson, D., Chen, Y.-H., Lamb, R. A., Randall, R. E.
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<strong>Influenza A virus NS1 protein binds p85-beta and activates phosphatidylinositol-3-kinase signaling.</strong>
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Proc. Nat. Acad. Sci. 103: 14194-14199, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16963558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16963558</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16963558[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=16963558" 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.0606109103" target="_blank">Full Text</a>]
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Hoyle, J., Yulug, I. G., Egan, S. E., Fisher, E. M. C.
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<strong>The gene that encodes the phosphatidylinositol-3 kinase regulatory subunit (p85-alpha) maps to chromosome 13 in the mouse.</strong>
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Genomics 24: 400-402, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7698770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7698770</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7698770" 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/10.1006/geno.1994.1638" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Janssen1998" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Janssen, J. W. G., Schleithoff, L., Bartram, C. R., Schulz, A. S.
|
|
<strong>An oncogenic fusion product of the phosphatidylinositol 3-kinase p85-beta subunit and HUMORF8, a putative deubiquitinating enzyme.</strong>
|
|
Oncogene 16: 1767-1772, 1998.
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|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582025" 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/sj.onc.1201695" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Nakamura2014" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Nakamura, K., Kato, M., Tohyama, J., Shiohama, T., Hayasaka, K., Nishiyama, K., Kodera, H., Nakashima, M., Tsurusaki, Y., Miyake, N., Matsumoto, N., Saitsu, H.
|
|
<strong>AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. (Letter)</strong>
|
|
Clin. Genet. 85: 396-298, 2014.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23745724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23745724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23745724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.12188" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Oak2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Oak, J. S., Deane, J. A., Kharas, M. G., Luo, J., Lane, T. E., Cantley, L. C., Fruman, D. A.
|
|
<strong>Sjogren's syndrome-like disease in mice with T cells lacking class 1A phosphoinositide-3-kinase.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 16882-16887, 2006. Note: Erratum: Proc. Nat. Acad. Sci. 106: 10871 only, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17071741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17071741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17071741[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=17071741" 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.0607984103" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Otsu1991" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Otsu, M., Hiles, I., Gout, I., Fry, M. J., Ruiz-Larrea, F., Panayotou, G., Thompson, A., Dhand, R., Hsuan, J., Totty, N., Smith, A. D., Morgan, S. J., Courtneidge, S. A., Parker, P. J., Waterfield, M. D.
|
|
<strong>Characterization of two 85 kd proteins that associate with receptor tyrosine kinases, middle-T/pp60(c-src) complexes, and PI3-kinase.</strong>
|
|
Cell 65: 91-104, 1991.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1707345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1707345</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1707345" 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(91)90411-q" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Park2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Park, S. W., Zhou, Y., Lee, J., Lu, A., Sun, C., Chung, J., Ueki, K., Ozcan, U.
|
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<strong>The regulatory subunits of PI3K, p85-alpha and p85-beta, interact with XBP-1 and increase its nuclear translocation.</strong>
|
|
Nature Med. 16: 429-437, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20348926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20348926</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20348926[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=20348926" 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/nm.2099" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Riviere2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Riviere, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., and 29 others.
|
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<strong>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</strong>
|
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Nature Genet. 44: 934-940, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729224</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729224[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=22729224" 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/ng.2331" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Tohyama2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tohyama, J., Akasaka, N., Saito, N., Yoshimura, J., Nishiyama, K., Kato, M.
|
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<strong>Megalencephaly and polymicrogyria with polydactyly syndrome.</strong>
|
|
Pediat. Neurol. 37: 148-151, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17675034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17675034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17675034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.pediatrneurol.2007.04.008" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Volinia1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Volinia, S., Patracchini, P., Otsu, M., Hiles, I., Gout, I., Calzolari, E., Bernardi, F., Rooke, L., Waterfield, M. D.
|
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<strong>Chromosomal localization of human p85-alpha, a subunit of phosphatidylinositol 3-kinase, and its homologue p85-beta.</strong>
|
|
Oncogene 7: 789-793, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1314371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1314371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1314371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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 : 8/12/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Nara Sobreira - updated : 11/20/2012<br>Nara Sobreira - updated : 11/14/2012<br>Patricia A. Hartz - updated : 6/7/2010<br>Paul J. Converse - updated : 2/5/2007<br>Paul J. Converse - updated : 1/16/2007
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</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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Jennifer P. Macke : 10/19/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 10/01/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 8/19/2014<br>ckniffin : 8/12/2014<br>ckniffin : 6/12/2014<br>carol : 11/20/2012<br>terry : 11/14/2012<br>terry : 6/6/2012<br>mgross : 6/10/2010<br>mgross : 6/10/2010<br>terry : 6/7/2010<br>mgross : 8/13/2007<br>mgross : 2/5/2007<br>mgross : 1/16/2007<br>carol : 4/23/2003<br>alopez : 10/19/1998
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>*</strong> 603157
|
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</span>
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</h3>
|
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</div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
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|
|
PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 2; PIK3R2
|
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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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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT, 85-KD, BETA<br />
|
|
p85-BETA
|
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</span>
|
|
</h4>
|
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</div>
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</div>
|
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
PIK3R2/UPS8 FUSION GENE, INCLUDED
|
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</span>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: PIK3R2</em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: 19p13.11
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 19:18,153,163-18,170,532 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</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">
|
|
19p13.11
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
603387
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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|
|
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</tr>
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</table>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates the inositol ring of phosphatidylinositol and related compounds at the 3-prime position. The products of these reactions are thought to serve as second messengers in growth signaling pathways. The kinase itself is made up of a catalytic subunit of molecular mass 110 kD (p110; e.g., PIK3CA, 171834) and a regulatory subunit of molecular mass 85, 55, or 50 kD (summary by Hoyle et al., 1994; Janssen et al., 1998). </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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</span>
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</h4>
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<span class="mim-text-font">
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<p>Otsu et al. (1991) showed that the bovine PI3K p85 subunit consists of 2 closely related proteins, p85-alpha (171833) and p85-beta. They cloned cDNAs encoding both p85 subunits, each of which is 724 amino acids long. The subunits share 62% amino acid identity across their entire length. Both sequences contain an N-terminal SH3 region, 2 SH2 regions, and a region of homology to BCR (151410). </p><p>Janssen et al. (1998) determined the human p85-beta cDNA sequence. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Functional expression studies by Otsu et al. (1991) showed that both bovine p85 subunits bound tyrosine kinase receptors. </p><p>Hale et al. (2006) generated a laryngeal carcinoma cell line constitutively expressing influenza A virus NS1 protein and found that NS1 bound specifically to p85-beta. The NS1 protein from various influenza strains also bound p85-beta, but not p85-alpha. Expression of NS1 led to induction of PI3K signaling, including phosphorylation of AKT (164730) at ser473. Binding of p85-beta and activation of PI3K required tyr89 of NS1, and mutant viruses expressing NS1 with a tyr89-to-phe substitution grew more slowly in cell culture than wildtype viruses. Hale et al. (2006) proposed that activation of PI3K signaling in influenza A virus-infected cells is important for efficient virus replication. </p><p>Using mouse embryonic fibroblasts, Park et al. (2010) showed that, in addition to regulating PI3K function, p85-alpha and p85-beta regulated the function of Xbp1s (XBP1; 194355), a transcription factor that orchestrates the unfolded protein response (UPR) following endoplasmic reticulum (ER) stress. Both p85-alpha and p85-beta bound Xbp1s and increased its nuclear translocation, and it appeared that the p110 PI3K catalytic subunit and Xbp1s competed for binding of these regulatory subunits. p85-alpha and p85-beta formed an inactive dimer that was disrupted by insulin in a time-dependent manner, which promoted their association with Xbp1s. Refeeding of wildtype mice after fasting induced ER stress that was quickly resolved, as measured by Xbp1s levels. In contrast, obese and insulin-resistant ob/ob (LEP; 164160) mice could not resolve the ER stress induced during refeeding, and nuclear translocation of Xbp1s was absent in ob/ob mice. Overexpression of p85-alpha or p85-beta in livers of ob/ob mice increased glucose tolerance and reduced blood glucose concentrations. </p><p>To assess the impact of the AKT3 (611223), PIK3R2, and PIK3CA mutations in individuals with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP; 602501) and megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome-1 (MPPH1; 603387) on PI3K activity, Riviere et al. (2012) used immunostaining to compare PIP3 amounts in lymphoblastoid cell lines derived from 4 mutation carriers with megalencephaly to those in control and PTEN (601728)-mutant cells. Consistent with elevated PI3K activity, and similar to what is seen with PTEN loss, all 3 lines with PIK3R2 or PIK3CA mutations showed significantly more PIP3 staining than control cells, as well as greater localization of active phosphoinositide-dependent kinase-1 (PDPK1; 605213) to the cell membrane. Treatment with the PI3K inhibitor PI-103 resulted in less PIP3 in the PIK3R2 G373R (603157.0001) and PIK3CA E453del (171834.0014) mutant lines, confirming that these results are PI3K-dependent. Riviere et al. (2012) found no evidence for increased PI3K activity in the AKT3-mutant line, consistent with a mutation affecting a downstream effector of PI3K. Protein blot analysis showed higher amounts of phosphorylated S6 protein and 4E-BP1 in all mutant cell lines compared to controls. Although PI-103 treatment reduced S6 phosphorylation in control and mutant lines, the latter showed relative resistance to PI3K inhibition, consistent with elevated signaling through the pathway. Riviere et al. (2012) concluded that the megalencephaly-associated mutations result in higher PI3K activity and PI3K-mTOR signaling. </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>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Volinia et al. (1992) used in situ hybridization to map the PIK3R2 gene to human chromosome 19q13.2-q13.4. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Janssen et al. (1998) analyzed DNA from a patient with chronic myeloproliferative disorder. They identified an oncogenic fusion of the 5-prime end of p85-beta and the 3-prime end of HUMORF8 (USP8; 603158). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Riviere et al. (2012) performed exome sequencing in the oldest of 3 affected sibs with MPPH1 and identified a heterozygous mutation in the PIK3R2 gene (G373R; 603157.0001). Sanger sequencing confirmed the presence of the mutation in all 3 affected sibs and its absence in the saliva and blood of both parents and the unaffected sister, showing germline mosaicism in 1 parent. Sequencing of the PIK3R2 gene in 40 individuals with megalencephaly identified the same nucleotide change in 10 additional subjects with MPPH, and this mutation was shown to be de novo in all subjects for whom parental DNA was available. The mutation occurred at a CpG dinucleotide, which might explain its recurrence. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Oak et al. (2006) crossed mice with a floxed Pik3r1 allele and a null Pik3r2 allele with Lck (153390)-Cre transgenic mice to generate a strain in which class IA Pi3k expression and function were essentially abrogated in T cells beginning at the double-negative stage. Histopathologic analysis of these mice showed development of organ-specific autoimmunity resembling Sjogren syndrome (SS; 270150). By 3 to 8 months of age, mutant mice developed corneal opacity and eye lesions due to irritation and constant scratching. Mutant mice showed marked lymphocytic infiltration of lacrimal glands and serum antinuclear and anti-Ssa (SSA1; 109092) antibodies, but no kidney pathology. Cd4-positive T cells, which were the predominant infiltrating cells in lacrimal glands of mutant mice, exhibited aberrant differentiation in vitro. Oak et al. (2006) concluded that impaired class IA PI3K signaling in T cells can lead to organ-specific autoimmunity, and they proposed that class IA Pi3k-deficient mice manifest the cardinal features of human primary SS. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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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 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1</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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PIK3R2, GLY373ARG
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<br />
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SNP: rs587776934,
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ClinVar: RCV000033029, RCV000190661, RCV000366413, RCV000416575, RCV001526656, RCV001836718, RCV001849288, RCV003914893
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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 13 individuals with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome-1 (MPPH1; 603387) from 11 unrelated families, Riviere et al. (2012) identified a heterozygous 1117G-A transition in the PIK3R2 gene, resulting in a gly373-to-arg (G373R) substitution in the PIK3R2 gene. This mutation was shown to be de novo in all subjects for whom parental DNA was available. The mutation occurred at a CpG dinucleotide, which might explain its recurrence. </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>.0002 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1</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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PIK3R2, LEU401PRO
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<br />
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SNP: rs587777624,
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ClinVar: RCV000133505
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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 an 8-year-old Japanese girl with MPPH1 (603387), Nakamura et al. (2014) identified a de novo heterozygous c.1202T-C transition in the PIK3R2 gene, resulting in a leu401-to-pro (L401P) substitution in the SH2 domain. The mutation, which was found by whole-exome sequencing, was not present in the Exome Sequencing Project database or in 144 in-house control exomes. Functional studies of the variant were not performed. The patient had previously been reported by Tohyama et al. (2007). </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">
|
|
<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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Hale, B. G., Jackson, D., Chen, Y.-H., Lamb, R. A., Randall, R. E.
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<strong>Influenza A virus NS1 protein binds p85-beta and activates phosphatidylinositol-3-kinase signaling.</strong>
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Proc. Nat. Acad. Sci. 103: 14194-14199, 2006.
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[PubMed: 16963558]
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[Full Text: https://doi.org/10.1073/pnas.0606109103]
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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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Hoyle, J., Yulug, I. G., Egan, S. E., Fisher, E. M. C.
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<strong>The gene that encodes the phosphatidylinositol-3 kinase regulatory subunit (p85-alpha) maps to chromosome 13 in the mouse.</strong>
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Genomics 24: 400-402, 1994.
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[PubMed: 7698770]
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[Full Text: https://doi.org/10.1006/geno.1994.1638]
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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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Janssen, J. W. G., Schleithoff, L., Bartram, C. R., Schulz, A. S.
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<strong>An oncogenic fusion product of the phosphatidylinositol 3-kinase p85-beta subunit and HUMORF8, a putative deubiquitinating enzyme.</strong>
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Oncogene 16: 1767-1772, 1998.
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[PubMed: 9582025]
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[Full Text: https://doi.org/10.1038/sj.onc.1201695]
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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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Nakamura, K., Kato, M., Tohyama, J., Shiohama, T., Hayasaka, K., Nishiyama, K., Kodera, H., Nakashima, M., Tsurusaki, Y., Miyake, N., Matsumoto, N., Saitsu, H.
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<strong>AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. (Letter)</strong>
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Clin. Genet. 85: 396-298, 2014.
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[PubMed: 23745724]
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[Full Text: https://doi.org/10.1111/cge.12188]
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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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Oak, J. S., Deane, J. A., Kharas, M. G., Luo, J., Lane, T. E., Cantley, L. C., Fruman, D. A.
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<strong>Sjogren's syndrome-like disease in mice with T cells lacking class 1A phosphoinositide-3-kinase.</strong>
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Proc. Nat. Acad. Sci. 103: 16882-16887, 2006. Note: Erratum: Proc. Nat. Acad. Sci. 106: 10871 only, 2009.
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[PubMed: 17071741]
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[Full Text: https://doi.org/10.1073/pnas.0607984103]
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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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Otsu, M., Hiles, I., Gout, I., Fry, M. J., Ruiz-Larrea, F., Panayotou, G., Thompson, A., Dhand, R., Hsuan, J., Totty, N., Smith, A. D., Morgan, S. J., Courtneidge, S. A., Parker, P. J., Waterfield, M. D.
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<strong>Characterization of two 85 kd proteins that associate with receptor tyrosine kinases, middle-T/pp60(c-src) complexes, and PI3-kinase.</strong>
|
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Cell 65: 91-104, 1991.
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[PubMed: 1707345]
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[Full Text: https://doi.org/10.1016/0092-8674(91)90411-q]
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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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Park, S. W., Zhou, Y., Lee, J., Lu, A., Sun, C., Chung, J., Ueki, K., Ozcan, U.
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<strong>The regulatory subunits of PI3K, p85-alpha and p85-beta, interact with XBP-1 and increase its nuclear translocation.</strong>
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Nature Med. 16: 429-437, 2010.
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[PubMed: 20348926]
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[Full Text: https://doi.org/10.1038/nm.2099]
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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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Riviere, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., and 29 others.
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<strong>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</strong>
|
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Nature Genet. 44: 934-940, 2012.
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[PubMed: 22729224]
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[Full Text: https://doi.org/10.1038/ng.2331]
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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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Tohyama, J., Akasaka, N., Saito, N., Yoshimura, J., Nishiyama, K., Kato, M.
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<strong>Megalencephaly and polymicrogyria with polydactyly syndrome.</strong>
|
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Pediat. Neurol. 37: 148-151, 2007.
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[PubMed: 17675034]
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[Full Text: https://doi.org/10.1016/j.pediatrneurol.2007.04.008]
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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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Volinia, S., Patracchini, P., Otsu, M., Hiles, I., Gout, I., Calzolari, E., Bernardi, F., Rooke, L., Waterfield, M. D.
|
|
<strong>Chromosomal localization of human p85-alpha, a subunit of phosphatidylinositol 3-kinase, and its homologue p85-beta.</strong>
|
|
Oncogene 7: 789-793, 1992.
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[PubMed: 1314371]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
|
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</span>
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</div>
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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 : 8/12/2014<br>Nara Sobreira - updated : 11/20/2012<br>Nara Sobreira - updated : 11/14/2012<br>Patricia A. Hartz - updated : 6/7/2010<br>Paul J. Converse - updated : 2/5/2007<br>Paul J. Converse - updated : 1/16/2007
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
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