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<title>
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Entry
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- *603317 - PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, Q; PTPRQ
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- OMIM
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<li class="dropdown-header">
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Advanced Search
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<a href="/history"> Search History </a>
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</form>
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<div class="row">
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<p />
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<div class="container hidden-print">
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603317</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603317">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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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 panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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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=ENSG00000139304;t=ENST00000644991" 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=374462" 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=603317" 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=ENSG00000139304;t=ENST00000644991" 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_001145026" 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_001145026" 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=603317" 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=19562&isoform_id=19562_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/PTPRQ" 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/5738160,158563998,222537743" 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/Q9UMZ3" 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=374462" 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=ENSG00000139304;t=ENST00000644991" 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=PTPRQ" 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=PTPRQ" 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+374462" 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/PTPRQ" 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:374462" 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/374462" 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=chr12&hgg_gene=ENST00000644991.3&hgg_start=80444235&hgg_end=80680273&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:9679" 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:9679" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603317[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603317[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000139304" 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=PTPRQ" 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=PTPRQ" 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=PTPRQ" 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=PTPRQ&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/PA164742315" 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:9679" 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/FBgn0043903.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:1096349" 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/PTPRQ#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:1096349" 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/374462/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002196/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=374462" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050419-183" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=PTPRQ&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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603317
|
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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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PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, Q; PTPRQ
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, EXPRESSED BY GLOMERULAR MESANGIAL CELLS 1; PTPGMC1
|
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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>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PTPRQ" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PTPRQ</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/12/650?start=-3&limit=10&highlight=650">12q21.31</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:80444235-80680273&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'})">12:80,444,235-80,680,273</a> </span>
|
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</em>
|
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</strong>
|
|
<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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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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>
|
|
<th>
|
|
Phenotype
|
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|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=617663,613391" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
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|
|
</th>
|
|
<th>
|
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Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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<p>PTPRQ belongs to the type III receptor-like protein-tyrosine phosphatase (PTPase) family. PTPRQ has low activity against phosphotyrosine, but is active against phosphatidylinositol phosphates that are involved in regulation of survival, proliferation, and subcellular architecture (<a href="#5" class="mim-tip-reference" title="Seifert, R. A., Coats, S. A., Oganesian, A., Wright, M. B., Dishmon, M., Booth, C. J., Johnson, R. J., Alpers, C. E., Bowen-Pope, D. F. <strong>PTPRQ is a novel phosphatidylinositol phosphatase that can be expressed as a cytoplasmic protein or as a subcellularly localized receptor-like protein.</strong> Exp. Cell Res. 287: 374-386, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12837292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12837292</a>] [<a href="https://doi.org/10.1016/s0014-4827(03)00121-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12837292">Seifert et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12837292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using degenerate PCR to identify novel PTPases expressed in glomerular mesangial cells from rats with experimentally-induced glomerulonephritis, <a href="#6" class="mim-tip-reference" title="Wright, M. B., Hugo, C., Seifert, R., Disteche, C. M., Bowen-Pope, D. F. <strong>Proliferating and migrating mesangial cells responding to injury express a novel receptor protein-tyrosine phosphatase in experimental mesangial proliferative glomerulonephritis.</strong> J. Biol. Chem. 273: 23929-23937, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9727007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9727007</a>] [<a href="https://doi.org/10.1074/jbc.273.37.23929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9727007">Wright et al. (1998)</a> cloned Ptprq, which they called Ptpgmc1. The Ptpgmc1 protein contains a signal peptide, 18 fibronectin (<a href="/entry/135600">135600</a>) type III-like adhesion domains, a transmembrane domain, and a single cytosolic PTPase domain. It also has putative sites for phosphorylation and N-linked glycosylation. <a href="#6" class="mim-tip-reference" title="Wright, M. B., Hugo, C., Seifert, R., Disteche, C. M., Bowen-Pope, D. F. <strong>Proliferating and migrating mesangial cells responding to injury express a novel receptor protein-tyrosine phosphatase in experimental mesangial proliferative glomerulonephritis.</strong> J. Biol. Chem. 273: 23929-23937, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9727007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9727007</a>] [<a href="https://doi.org/10.1074/jbc.273.37.23929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9727007">Wright et al. (1998)</a> also cloned a human partial PTPGMC1 cDNA. Northern blot analysis of rat tissues demonstrated Ptpgmc1 expression only in proliferating mesangial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9727007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Seifert, R. A., Coats, S. A., Oganesian, A., Wright, M. B., Dishmon, M., Booth, C. J., Johnson, R. J., Alpers, C. E., Bowen-Pope, D. F. <strong>PTPRQ is a novel phosphatidylinositol phosphatase that can be expressed as a cytoplasmic protein or as a subcellularly localized receptor-like protein.</strong> Exp. Cell Res. 287: 374-386, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12837292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12837292</a>] [<a href="https://doi.org/10.1016/s0014-4827(03)00121-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12837292">Seifert et al. (2003)</a> presented evidence that cytoplasmic and receptor-like forms of rat and human PTPRQ are produced by alternative splicing and the use of alternative promoters. Northern blot analysis detected PTPRQ transcripts of 1.8 to 7.5 kb in human tissues and rat mesangial cells. The 1.8-kb transcript, which encodes a soluble protein containing only the catalytic domain, was predominant in human testis and rat mesangial cells, in which it was upregulated 7- to 8-fold following induction of glomerular injury. The 7.5-kb transcript, which encodes a protein containing both catalytic and extracellular domains, was predominant in human adult lung and adult and fetal kidney. In situ hybridization detected PTPRQ on the basal membrane of adult and fetal human glomerular podocytes, but not elsewhere in the kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12837292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Schraders, M., Oostrik, J., Huygen, P. L. M., Strom, T. M., van Wijk, E., Kunst, H. P. M., Hoefsloot, L. H., Cremers, C. W. R. J., Admiraal, R. J. C., Kremer, H. <strong>Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.</strong> Am. J. Hum. Genet. 86: 604-610, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20346435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20346435</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20346435[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20346435">Schraders et al. (2010)</a> reported complete characterization of the human PTPRQ gene and identified 4 different splice variants (I-IV). Alternative splicing occurred at the 5-prime end of the gene, and exon 49 was also alternatively spliced in both testes and retina. The splice variants differed in the number of FN3 domains, which are known to bind extracellular ligands, with variant I containing 2,200 amino acids and 15 FN3 domains, variant II containing 2,587 amino acids and 19 FN3 domains, variant III containing 2,517 amino acids and 19 FN3 domains, and variant IV containing 2,501 amino acids and 18 FN3 domains. Quantitative PCR analysis using a fragment encoding the intracellular region of PTPRQ detected expression in all but 2 human fetal tissues tested, with highest expression in fetal kidney, followed by fetal lung and fetal cochlea. Transcript levels were below detection level in fetal liver and fetal colon. In all adult human tissues tested, the highest transcript levels were in lung and heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20346435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Schraders, M., Oostrik, J., Huygen, P. L. M., Strom, T. M., van Wijk, E., Kunst, H. P. M., Hoefsloot, L. H., Cremers, C. W. R. J., Admiraal, R. J. C., Kremer, H. <strong>Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.</strong> Am. J. Hum. Genet. 86: 604-610, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20346435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20346435</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20346435[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20346435">Schraders et al. (2010)</a> determined that the PTPRQ gene contains 58 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20346435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#6" class="mim-tip-reference" title="Wright, M. B., Hugo, C., Seifert, R., Disteche, C. M., Bowen-Pope, D. F. <strong>Proliferating and migrating mesangial cells responding to injury express a novel receptor protein-tyrosine phosphatase in experimental mesangial proliferative glomerulonephritis.</strong> J. Biol. Chem. 273: 23929-23937, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9727007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9727007</a>] [<a href="https://doi.org/10.1074/jbc.273.37.23929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9727007">Wright et al. (1998)</a> mapped the PTPRQ gene to chromosome 12q15. <a href="#4" class="mim-tip-reference" title="Schraders, M., Oostrik, J., Huygen, P. L. M., Strom, T. M., van Wijk, E., Kunst, H. P. M., Hoefsloot, L. H., Cremers, C. W. R. J., Admiraal, R. J. C., Kremer, H. <strong>Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.</strong> Am. J. Hum. Genet. 86: 604-610, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20346435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20346435</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20346435[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20346435">Schraders et al. (2010)</a> noted that the PTPRQ gene mapped to chromosome 12q21.31. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20346435+9727007" 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="Oganesian, A., Poot, M., Daum, G., Coats, S. A., Wright, M. B., Seifert, R. A., Bowen-Pope, D. F. <strong>Protein tyrosine phosphatase RQ is a phosphatidylinositol phosphatase that can regulate cell survival and proliferation.</strong> Proc. Nat. Acad. Sci. 100: 7563-7568, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12802008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12802008</a>] [<a href="https://doi.org/10.1073/pnas.1336511100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12802008">Oganesian et al. (2003)</a> found that rat Ptprq had both protein-tyrosine phosphatase activity and phosphatidylinositol (PtdIns) phosphatase activity. In vitro, the recombinant catalytic domain of Ptprq had low tyrosine phosphatase activity against tyrosine-phosphorylated peptides and protein substrates, but it could dephosphorylate a broad range of PtdIns phosphates, including PtdIns 2,3,4-trisphosphate and most PtdIns monophosphates and diphosphates. Phosphate was hydrolyzed from the D3 and D5 positions in the inositol ring. Overexpression of Ptprq in cultured cells inhibited proliferation and induced apoptosis. A mutation that had no effect on protein-tyrosine phosphatase activity but eliminated PtdIns phosphatase activity eliminated the inhibitory effects on proliferation and apoptosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12802008" 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><strong><em>Deafness, Autosomal Recessive 84A</em></strong></p><p>
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In affected members of 2 unrelated families with autosomal recessive nonsyndromic sensorineural hearing loss with vestibular dysfunction (DFNB84A; <a href="/entry/613391">613391</a>), <a href="#4" class="mim-tip-reference" title="Schraders, M., Oostrik, J., Huygen, P. L. M., Strom, T. M., van Wijk, E., Kunst, H. P. M., Hoefsloot, L. H., Cremers, C. W. R. J., Admiraal, R. J. C., Kremer, H. <strong>Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.</strong> Am. J. Hum. Genet. 86: 604-610, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20346435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20346435</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20346435[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20346435">Schraders et al. (2010)</a> identified respective homozygous mutations in the PTPRQ gene (<a href="#0001">603317.0001</a> and <a href="#0002">603317.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20346435" 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><strong><em>Deafness, Autosomal Dominant 73</em></strong></p><p>
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By whole-exome sequencing in a 4-generation German family segregating autosomal dominant hearing loss (DFNA73; <a href="/entry/617663">617663</a>), <a href="#1" class="mim-tip-reference" title="Eisenberger, T., Di Donato, N., Decker, C., Delle Vedove, A, Neuhaus, C., Nurnberg, G., Toliat, M., Nurnberg, P., Murbe, D., Bolz, H. J. B. <strong>A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss.</strong> Genet. Med. 20: 614-621, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29309402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29309402</a>] [<a href="https://doi.org/10.1038/gim.2017.155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29309402">Eisenberger et al. (2017)</a> identified a heterozygous nonsense mutation in the last coding exon (exon 45) of the PTPRQ gene (W2294X; <a href="#0003">603317.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29309402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Goodyear, R. J., Legan, P. K., Wright, M. B., Marcotti, W., Oganesian, A., Coats, S. A., Booth, C. J., Kros, C. J., Seifert, R. A., Bowen-Pope, D. F., Richardson, G. P. <strong>A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles.</strong> J. Neurosci. 23: 9208-9219, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14534255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14534255</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.23-27-09208.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14534255">Goodyear et al. (2003)</a> showed that Ptprq localized to inner-ear hair bundles in chick inner ear and to kidney glomeruli. In early postnatal mice, Ptprq stained hair bundles in the cochlea and the vestibule in the inner ear and was also expressed during embryonic development. The distribution of staining on hair bundles differed according to the type of hair cell and its location. Two different transgenic mouse strains with different mutations in the Ptprq gene had absence of shaft connectors in mutant vestibular hair bundles and misaligned or absent stereocilia. Mutant mice showed rapid postnatal deterioration in cochlear hair-bundle structure, associated with smaller than normal transducer currents, progressive loss of basal-coil cochlear hair cells, and deafness. <a href="#2" class="mim-tip-reference" title="Goodyear, R. J., Legan, P. K., Wright, M. B., Marcotti, W., Oganesian, A., Coats, S. A., Booth, C. J., Kros, C. J., Seifert, R. A., Bowen-Pope, D. F., Richardson, G. P. <strong>A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles.</strong> J. Neurosci. 23: 9208-9219, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14534255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14534255</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.23-27-09208.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14534255">Goodyear et al. (2003)</a> suggested that Ptprq is required for formation of the shaft connectors of the hair bundle, the normal maturation of cochlear hair bundles, and the long-term survival of high-frequency auditory hair cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14534255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs183258549 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs183258549;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs183258549?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs183258549" 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=rs183258549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Dutch adult sibs with autosomal recessive nonsyndromic hearing loss with vestibular dysfunction (DFNB84A; <a href="/entry/613391">613391</a>), <a href="#4" class="mim-tip-reference" title="Schraders, M., Oostrik, J., Huygen, P. L. M., Strom, T. M., van Wijk, E., Kunst, H. P. M., Hoefsloot, L. H., Cremers, C. W. R. J., Admiraal, R. J. C., Kremer, H. <strong>Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.</strong> Am. J. Hum. Genet. 86: 604-610, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20346435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20346435</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20346435[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20346435">Schraders et al. (2010)</a> identified a homozygous 1491T-A transversion in exon 19 of the PTPRQ gene, resulting in a tyr497-to-ter (Y497X) substitution, and a truncated protein lacking the transmembrane and phosphatase domains. The nomenclature of the mutation was based on splice variant III. The mutation was not found in 125 ethnically matched controls. Measurements of autozygosity indicated that the parents had a common ancestor who lived at least 5 generations ago. The hearing loss was bilateral, symmetric, sensorineural, and likely congenital. Neither patient developed normal speech, and both reported progression of hearing loss from severe to profound from 30 and 45 years of age and after, respectively. In addition, both reported delayed motor development, and electronystagmography in caloric and rotary testing demonstrated impaired vestibular function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20346435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 Moroccan sibs, born of consanguineous parents, with autosomal recessive nonsyndromic hearing loss with vestibular dysfunction (DFNB84A; <a href="/entry/613391">613391</a>), <a href="#4" class="mim-tip-reference" title="Schraders, M., Oostrik, J., Huygen, P. L. M., Strom, T. M., van Wijk, E., Kunst, H. P. M., Hoefsloot, L. H., Cremers, C. W. R. J., Admiraal, R. J. C., Kremer, H. <strong>Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.</strong> Am. J. Hum. Genet. 86: 604-610, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20346435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20346435</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20346435[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.02.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20346435">Schraders et al. (2010)</a> identified a homozygous 1369A-G transition in exon 19 of the PTPRQ gene, resulting in an arg457-to-gly (A457G) substitution in a highly conserved residue in the fifth FN3 domain, which is an extracellular domain known to bind ligands. The nomenclature of the mutation was based on splice variant III. The mutation was not found in 125 ethnically matched controls. The hearing loss was bilateral, symmetric, sensorineural, progressive, and likely congenital. Electronystagmography in caloric and rotary testing demonstrated impaired vestibular function. The phenotype was slightly less severe than that observed in a Dutch family with a truncating mutation (Y497X; <a href="#0001">603317.0001</a>), suggesting that the R457G mutant retains residual function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20346435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By whole-exome sequencing in a 4-generation German family segregating autosomal dominant nonsyndromic hearing loss (DFNA73; <a href="/entry/617663">617663</a>), <a href="#1" class="mim-tip-reference" title="Eisenberger, T., Di Donato, N., Decker, C., Delle Vedove, A, Neuhaus, C., Nurnberg, G., Toliat, M., Nurnberg, P., Murbe, D., Bolz, H. J. B. <strong>A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss.</strong> Genet. Med. 20: 614-621, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29309402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29309402</a>] [<a href="https://doi.org/10.1038/gim.2017.155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29309402">Eisenberger et al. (2017)</a> identified a heterozygous c.6881G-A transition (c.6881G-A, NM_001145026.1) in the last coding exon (exon 45) of the PTPRQ gene, resulting in a trp2294-to-ter (W2294X) substitution, in affected members. The age of onset of hearing loss ranged from early childhood to the third decade. The proband's 4-year-old brother, who was heterozygous for the mutation, had not yet manifested hearing loss, but the mutation otherwise segregated with the phenotype. The mutation was not present in the ExAC or the gnomAD databases. PTPRQ expression in patient fibroblasts indicated that the mutant allele escapes nonsense-mediated decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29309402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<a id="1" class="mim-anchor"></a>
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<a id="Eisenberger2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Eisenberger, T., Di Donato, N., Decker, C., Delle Vedove, A, Neuhaus, C., Nurnberg, G., Toliat, M., Nurnberg, P., Murbe, D., Bolz, H. J. B.
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<strong>A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss.</strong>
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Genet. Med. 20: 614-621, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29309402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29309402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29309402" 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/gim.2017.155" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Goodyear2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Goodyear, R. J., Legan, P. K., Wright, M. B., Marcotti, W., Oganesian, A., Coats, S. A., Booth, C. J., Kros, C. J., Seifert, R. A., Bowen-Pope, D. F., Richardson, G. P.
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<strong>A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles.</strong>
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J. Neurosci. 23: 9208-9219, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14534255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14534255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14534255" 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/10.1523/JNEUROSCI.23-27-09208.2003" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Oganesian2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Oganesian, A., Poot, M., Daum, G., Coats, S. A., Wright, M. B., Seifert, R. A., Bowen-Pope, D. F.
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<strong>Protein tyrosine phosphatase RQ is a phosphatidylinositol phosphatase that can regulate cell survival and proliferation.</strong>
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Proc. Nat. Acad. Sci. 100: 7563-7568, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12802008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12802008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12802008" 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.1336511100" target="_blank">Full Text</a>]
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Schraders2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schraders, M., Oostrik, J., Huygen, P. L. M., Strom, T. M., van Wijk, E., Kunst, H. P. M., Hoefsloot, L. H., Cremers, C. W. R. J., Admiraal, R. J. C., Kremer, H.
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<strong>Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.</strong>
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Am. J. Hum. Genet. 86: 604-610, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20346435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20346435</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20346435[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=20346435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.02.015" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Seifert2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Seifert, R. A., Coats, S. A., Oganesian, A., Wright, M. B., Dishmon, M., Booth, C. J., Johnson, R. J., Alpers, C. E., Bowen-Pope, D. F.
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<strong>PTPRQ is a novel phosphatidylinositol phosphatase that can be expressed as a cytoplasmic protein or as a subcellularly localized receptor-like protein.</strong>
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Exp. Cell Res. 287: 374-386, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12837292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12837292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12837292" 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/s0014-4827(03)00121-6" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Wright1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wright, M. B., Hugo, C., Seifert, R., Disteche, C. M., Bowen-Pope, D. F.
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<strong>Proliferating and migrating mesangial cells responding to injury express a novel receptor protein-tyrosine phosphatase in experimental mesangial proliferative glomerulonephritis.</strong>
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J. Biol. Chem. 273: 23929-23937, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9727007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9727007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9727007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.273.37.23929" target="_blank">Full Text</a>]
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<br />
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<a id="contributors" class="mim-anchor"></a>
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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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<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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Joanna S. Amberger - updated : 09/12/2017
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/30/2010<br>Matthew B. Gross - updated : 12/1/2006
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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 : 11/24/1998
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/07/2018
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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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joanna : 09/15/2017<br>joanna : 09/13/2017<br>carol : 09/12/2017<br>joanna : 09/12/2017<br>carol : 09/07/2017<br>carol : 11/26/2012<br>carol : 5/24/2011<br>wwang : 4/30/2010<br>ckniffin : 4/30/2010<br>carol : 12/4/2008<br>mgross : 12/1/2006<br>mgross : 12/1/2006<br>alopez : 11/24/1998
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603317
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<div>
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<h3>
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<span class="mim-font">
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PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, Q; PTPRQ
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, EXPRESSED BY GLOMERULAR MESANGIAL CELLS 1; PTPGMC1
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</span>
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</h4>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PTPRQ</em></strong>
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<strong>
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<em>
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Cytogenetic location: 12q21.31
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:80,444,235-80,680,273 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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Location
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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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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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12q21.31
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<td>
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<span class="mim-font">
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Deafness, autosomal dominant 73
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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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617663
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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Deafness, autosomal recessive 84A
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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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613391
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<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>PTPRQ belongs to the type III receptor-like protein-tyrosine phosphatase (PTPase) family. PTPRQ has low activity against phosphotyrosine, but is active against phosphatidylinositol phosphates that are involved in regulation of survival, proliferation, and subcellular architecture (Seifert et al., 2003). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Using degenerate PCR to identify novel PTPases expressed in glomerular mesangial cells from rats with experimentally-induced glomerulonephritis, Wright et al. (1998) cloned Ptprq, which they called Ptpgmc1. The Ptpgmc1 protein contains a signal peptide, 18 fibronectin (135600) type III-like adhesion domains, a transmembrane domain, and a single cytosolic PTPase domain. It also has putative sites for phosphorylation and N-linked glycosylation. Wright et al. (1998) also cloned a human partial PTPGMC1 cDNA. Northern blot analysis of rat tissues demonstrated Ptpgmc1 expression only in proliferating mesangial cells. </p><p>Seifert et al. (2003) presented evidence that cytoplasmic and receptor-like forms of rat and human PTPRQ are produced by alternative splicing and the use of alternative promoters. Northern blot analysis detected PTPRQ transcripts of 1.8 to 7.5 kb in human tissues and rat mesangial cells. The 1.8-kb transcript, which encodes a soluble protein containing only the catalytic domain, was predominant in human testis and rat mesangial cells, in which it was upregulated 7- to 8-fold following induction of glomerular injury. The 7.5-kb transcript, which encodes a protein containing both catalytic and extracellular domains, was predominant in human adult lung and adult and fetal kidney. In situ hybridization detected PTPRQ on the basal membrane of adult and fetal human glomerular podocytes, but not elsewhere in the kidney. </p><p>Schraders et al. (2010) reported complete characterization of the human PTPRQ gene and identified 4 different splice variants (I-IV). Alternative splicing occurred at the 5-prime end of the gene, and exon 49 was also alternatively spliced in both testes and retina. The splice variants differed in the number of FN3 domains, which are known to bind extracellular ligands, with variant I containing 2,200 amino acids and 15 FN3 domains, variant II containing 2,587 amino acids and 19 FN3 domains, variant III containing 2,517 amino acids and 19 FN3 domains, and variant IV containing 2,501 amino acids and 18 FN3 domains. Quantitative PCR analysis using a fragment encoding the intracellular region of PTPRQ detected expression in all but 2 human fetal tissues tested, with highest expression in fetal kidney, followed by fetal lung and fetal cochlea. Transcript levels were below detection level in fetal liver and fetal colon. In all adult human tissues tested, the highest transcript levels were in lung and heart. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</h4>
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<span class="mim-text-font">
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<p>Schraders et al. (2010) determined that the PTPRQ gene contains 58 exons. </p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Mapping</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>By fluorescence in situ hybridization, Wright et al. (1998) mapped the PTPRQ gene to chromosome 12q15. Schraders et al. (2010) noted that the PTPRQ gene mapped to chromosome 12q21.31. </p>
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</span>
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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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<span class="mim-text-font">
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<p>Oganesian et al. (2003) found that rat Ptprq had both protein-tyrosine phosphatase activity and phosphatidylinositol (PtdIns) phosphatase activity. In vitro, the recombinant catalytic domain of Ptprq had low tyrosine phosphatase activity against tyrosine-phosphorylated peptides and protein substrates, but it could dephosphorylate a broad range of PtdIns phosphates, including PtdIns 2,3,4-trisphosphate and most PtdIns monophosphates and diphosphates. Phosphate was hydrolyzed from the D3 and D5 positions in the inositol ring. Overexpression of Ptprq in cultured cells inhibited proliferation and induced apoptosis. A mutation that had no effect on protein-tyrosine phosphatase activity but eliminated PtdIns phosphatase activity eliminated the inhibitory effects on proliferation and apoptosis. </p>
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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 class="mim-text-font">
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<p><strong><em>Deafness, Autosomal Recessive 84A</em></strong></p><p>
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In affected members of 2 unrelated families with autosomal recessive nonsyndromic sensorineural hearing loss with vestibular dysfunction (DFNB84A; 613391), Schraders et al. (2010) identified respective homozygous mutations in the PTPRQ gene (603317.0001 and 603317.0002). </p><p><strong><em>Deafness, Autosomal Dominant 73</em></strong></p><p>
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By whole-exome sequencing in a 4-generation German family segregating autosomal dominant hearing loss (DFNA73; 617663), Eisenberger et al. (2017) identified a heterozygous nonsense mutation in the last coding exon (exon 45) of the PTPRQ gene (W2294X; 603317.0003). </p>
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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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</h4>
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<span class="mim-text-font">
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<p>Goodyear et al. (2003) showed that Ptprq localized to inner-ear hair bundles in chick inner ear and to kidney glomeruli. In early postnatal mice, Ptprq stained hair bundles in the cochlea and the vestibule in the inner ear and was also expressed during embryonic development. The distribution of staining on hair bundles differed according to the type of hair cell and its location. Two different transgenic mouse strains with different mutations in the Ptprq gene had absence of shaft connectors in mutant vestibular hair bundles and misaligned or absent stereocilia. Mutant mice showed rapid postnatal deterioration in cochlear hair-bundle structure, associated with smaller than normal transducer currents, progressive loss of basal-coil cochlear hair cells, and deafness. Goodyear et al. (2003) suggested that Ptprq is required for formation of the shaft connectors of the hair bundle, the normal maturation of cochlear hair bundles, and the long-term survival of high-frequency auditory hair cells. </p>
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</span>
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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>3 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 DEAFNESS, AUTOSOMAL RECESSIVE 84A</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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PTPRQ, TYR497TER
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<br />
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SNP: rs183258549,
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gnomAD: rs183258549,
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ClinVar: RCV000144417
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</span>
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<div>
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<span class="mim-text-font">
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<p>In 2 Dutch adult sibs with autosomal recessive nonsyndromic hearing loss with vestibular dysfunction (DFNB84A; 613391), Schraders et al. (2010) identified a homozygous 1491T-A transversion in exon 19 of the PTPRQ gene, resulting in a tyr497-to-ter (Y497X) substitution, and a truncated protein lacking the transmembrane and phosphatase domains. The nomenclature of the mutation was based on splice variant III. The mutation was not found in 125 ethnically matched controls. Measurements of autozygosity indicated that the parents had a common ancestor who lived at least 5 generations ago. The hearing loss was bilateral, symmetric, sensorineural, and likely congenital. Neither patient developed normal speech, and both reported progression of hearing loss from severe to profound from 30 and 45 years of age and after, respectively. In addition, both reported delayed motor development, and electronystagmography in caloric and rotary testing demonstrated impaired vestibular function. </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 DEAFNESS, AUTOSOMAL RECESSIVE 84A</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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PTPRQ, ARG457GLY
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<br />
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SNP: rs281865414,
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ClinVar: RCV000144416
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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 2 Moroccan sibs, born of consanguineous parents, with autosomal recessive nonsyndromic hearing loss with vestibular dysfunction (DFNB84A; 613391), Schraders et al. (2010) identified a homozygous 1369A-G transition in exon 19 of the PTPRQ gene, resulting in an arg457-to-gly (A457G) substitution in a highly conserved residue in the fifth FN3 domain, which is an extracellular domain known to bind ligands. The nomenclature of the mutation was based on splice variant III. The mutation was not found in 125 ethnically matched controls. The hearing loss was bilateral, symmetric, sensorineural, progressive, and likely congenital. Electronystagmography in caloric and rotary testing demonstrated impaired vestibular function. The phenotype was slightly less severe than that observed in a Dutch family with a truncating mutation (Y497X; 603317.0001), suggesting that the R457G mutant retains residual function. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 DEAFNESS, AUTOSOMAL DOMINANT 73 (1 family)</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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PTPRQ, TRP2294TER
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<br />
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SNP: rs1555214288,
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|
|
ClinVar: RCV000505470, RCV001268420
|
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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>By whole-exome sequencing in a 4-generation German family segregating autosomal dominant nonsyndromic hearing loss (DFNA73; 617663), Eisenberger et al. (2017) identified a heterozygous c.6881G-A transition (c.6881G-A, NM_001145026.1) in the last coding exon (exon 45) of the PTPRQ gene, resulting in a trp2294-to-ter (W2294X) substitution, in affected members. The age of onset of hearing loss ranged from early childhood to the third decade. The proband's 4-year-old brother, who was heterozygous for the mutation, had not yet manifested hearing loss, but the mutation otherwise segregated with the phenotype. The mutation was not present in the ExAC or the gnomAD databases. PTPRQ expression in patient fibroblasts indicated that the mutant allele escapes nonsense-mediated decay. </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>
|
|
</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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Eisenberger, T., Di Donato, N., Decker, C., Delle Vedove, A, Neuhaus, C., Nurnberg, G., Toliat, M., Nurnberg, P., Murbe, D., Bolz, H. J. B.
|
|
<strong>A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss.</strong>
|
|
Genet. Med. 20: 614-621, 2017.
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[PubMed: 29309402]
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[Full Text: https://doi.org/10.1038/gim.2017.155]
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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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Goodyear, R. J., Legan, P. K., Wright, M. B., Marcotti, W., Oganesian, A., Coats, S. A., Booth, C. J., Kros, C. J., Seifert, R. A., Bowen-Pope, D. F., Richardson, G. P.
|
|
<strong>A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles.</strong>
|
|
J. Neurosci. 23: 9208-9219, 2003.
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[PubMed: 14534255]
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[Full Text: https://doi.org/10.1523/JNEUROSCI.23-27-09208.2003]
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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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Oganesian, A., Poot, M., Daum, G., Coats, S. A., Wright, M. B., Seifert, R. A., Bowen-Pope, D. F.
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<strong>Protein tyrosine phosphatase RQ is a phosphatidylinositol phosphatase that can regulate cell survival and proliferation.</strong>
|
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Proc. Nat. Acad. Sci. 100: 7563-7568, 2003.
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[PubMed: 12802008]
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[Full Text: https://doi.org/10.1073/pnas.1336511100]
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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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Schraders, M., Oostrik, J., Huygen, P. L. M., Strom, T. M., van Wijk, E., Kunst, H. P. M., Hoefsloot, L. H., Cremers, C. W. R. J., Admiraal, R. J. C., Kremer, H.
|
|
<strong>Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.</strong>
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Am. J. Hum. Genet. 86: 604-610, 2010.
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[PubMed: 20346435]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.02.015]
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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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Seifert, R. A., Coats, S. A., Oganesian, A., Wright, M. B., Dishmon, M., Booth, C. J., Johnson, R. J., Alpers, C. E., Bowen-Pope, D. F.
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<strong>PTPRQ is a novel phosphatidylinositol phosphatase that can be expressed as a cytoplasmic protein or as a subcellularly localized receptor-like protein.</strong>
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Exp. Cell Res. 287: 374-386, 2003.
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[PubMed: 12837292]
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[Full Text: https://doi.org/10.1016/s0014-4827(03)00121-6]
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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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Wright, M. B., Hugo, C., Seifert, R., Disteche, C. M., Bowen-Pope, D. F.
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<strong>Proliferating and migrating mesangial cells responding to injury express a novel receptor protein-tyrosine phosphatase in experimental mesangial proliferative glomerulonephritis.</strong>
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J. Biol. Chem. 273: 23929-23937, 1998.
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[PubMed: 9727007]
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[Full Text: https://doi.org/10.1074/jbc.273.37.23929]
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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 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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Joanna S. Amberger - updated : 09/12/2017<br>Cassandra L. Kniffin - updated : 4/30/2010<br>Matthew B. Gross - updated : 12/1/2006
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</span>
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</div>
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</div>
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<br />
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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 : 11/24/1998
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/07/2018<br>joanna : 09/15/2017<br>joanna : 09/13/2017<br>carol : 09/12/2017<br>joanna : 09/12/2017<br>carol : 09/07/2017<br>carol : 11/26/2012<br>carol : 5/24/2011<br>wwang : 4/30/2010<br>ckniffin : 4/30/2010<br>carol : 12/4/2008<br>mgross : 12/1/2006<br>mgross : 12/1/2006<br>alopez : 11/24/1998
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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