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Entry
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- *605948 - G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER B; GPRC5B
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- OMIM
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<p>
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<span class="h4">*605948</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605948">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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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 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=ENSG00000167191;t=ENST00000300571" 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=51704" 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=605948" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000167191;t=ENST00000300571" 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_001304771,NM_016235" 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_016235" 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=605948" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</div>
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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=16177&isoform_id=16177_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/GPRC5B" 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/3342218,6175913,7682557,7706451,9588667,21759767,22761001,46396016,119570687,119570688,119570689,119570690,221040166,221040670,221041498,221044280,221045366,255689348,755571572" 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/Q9NZH0" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=51704" 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=ENSG00000167191;t=ENST00000300571" 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=GPRC5B" 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=GPRC5B" 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+51704" 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/GPRC5B" 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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<div><a href="https://www.ncbi.nlm.nih.gov/gene/51704" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr16&hgg_gene=ENST00000300571.7&hgg_start=19856691&hgg_end=19885634&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 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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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605948[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=605948[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/ENSG00000167191" 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=GPRC5B" 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=GPRC5B" 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=GPRC5B" 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=GPRC5B&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/PA28938" 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:13308" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1927596" 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/GPRC5B#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:1927596" 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/51704/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=51704" 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-030131-8162" 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=GPRC5B&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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605948
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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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G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER B; GPRC5B
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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RETINOIC ACID-INDUCIBLE GENE 2; RAIG2
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GPRC5B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GPRC5B</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/16/240?start=-3&limit=10&highlight=240">16p12.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:19856691-19885634&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">16:19,856,691-19,885,634</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/16/240?start=-3&limit=10&highlight=240">
|
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16p12.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Megalencephalic leukoencephalopathy with subcortical cysts 3
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/620447"> 620447 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/605948" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605948" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>G protein-coupled receptors (GPCRs) share a common structure of 7 transmembrane domains, an extracellular N-terminal domain, an intracellular C-terminal domain, and several conserved residues. Family C of the GPCR superfamily, which includes GPRC5B, consists of metabotropic glutamate receptor-like proteins (e.g., GRM2; <a href="/entry/604099">604099</a>) (summary by <a href="#1" class="mim-tip-reference" title="Brauner-Osborne, H., Krogsgaard-Larsen, P. <strong>Sequence and expression pattern of a novel human orphan G-protein-coupled receptor, GPRC5B, a family C receptor with a short amino-terminal domain.</strong> Genomics 65: 121-128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10783259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10783259</a>] [<a href="https://doi.org/10.1006/geno.2000.6164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10783259">Brauner-Osborne and Krogsgaard-Larsen, 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10783259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
|
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<br />
|
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</div>
|
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</div>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<p>By searching sequence databases for metabotropic glutamate receptor homologs, <a href="#3" class="mim-tip-reference" title="Robbins, M. J., Michalovich, D., Hill, J., Calver, A. R., Medhurst, A. D., Gloger, I., Sims, M., Middlemiss, D. N., Pangalos, M. N. <strong>Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C).</strong> Genomics 67: 8-18, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10945465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10945465</a>] [<a href="https://doi.org/10.1006/geno.2000.6226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10945465">Robbins et al. (2000)</a> and <a href="#1" class="mim-tip-reference" title="Brauner-Osborne, H., Krogsgaard-Larsen, P. <strong>Sequence and expression pattern of a novel human orphan G-protein-coupled receptor, GPRC5B, a family C receptor with a short amino-terminal domain.</strong> Genomics 65: 121-128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10783259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10783259</a>] [<a href="https://doi.org/10.1006/geno.2000.6164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10783259">Brauner-Osborne and Krogsgaard-Larsen (2000)</a> identified cDNAs encoding GPRC5B, which <a href="#3" class="mim-tip-reference" title="Robbins, M. J., Michalovich, D., Hill, J., Calver, A. R., Medhurst, A. D., Gloger, I., Sims, M., Middlemiss, D. N., Pangalos, M. N. <strong>Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C).</strong> Genomics 67: 8-18, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10945465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10945465</a>] [<a href="https://doi.org/10.1006/geno.2000.6226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10945465">Robbins et al. (2000)</a> called RAIG2. <a href="#3" class="mim-tip-reference" title="Robbins, M. J., Michalovich, D., Hill, J., Calver, A. R., Medhurst, A. D., Gloger, I., Sims, M., Middlemiss, D. N., Pangalos, M. N. <strong>Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C).</strong> Genomics 67: 8-18, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10945465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10945465</a>] [<a href="https://doi.org/10.1006/geno.2000.6226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10945465">Robbins et al. (2000)</a> predicted that GPRC5B is a 403-amino acid protein, while <a href="#1" class="mim-tip-reference" title="Brauner-Osborne, H., Krogsgaard-Larsen, P. <strong>Sequence and expression pattern of a novel human orphan G-protein-coupled receptor, GPRC5B, a family C receptor with a short amino-terminal domain.</strong> Genomics 65: 121-128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10783259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10783259</a>] [<a href="https://doi.org/10.1006/geno.2000.6164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10783259">Brauner-Osborne and Krogsgaard-Larsen (2000)</a> predicted the use of a different start codon that results in a 395-amino acid protein encoded by 3 exons. The GPRC5B protein contains 7 predicted transmembrane helices and conserved cysteines characteristic of GPCRs. It also contains a predicted signal peptide and a potential N-glycosylation site. <a href="#3" class="mim-tip-reference" title="Robbins, M. J., Michalovich, D., Hill, J., Calver, A. R., Medhurst, A. D., Gloger, I., Sims, M., Middlemiss, D. N., Pangalos, M. N. <strong>Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C).</strong> Genomics 67: 8-18, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10945465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10945465</a>] [<a href="https://doi.org/10.1006/geno.2000.6226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10945465">Robbins et al. (2000)</a> reported that GPRC5B shares 43% and 38% amino acid identity with GPRC5C (<a href="/entry/605949">605949</a>) and RAIG1 (RAI3; <a href="/entry/604138">604138</a>), respectively. <a href="#1" class="mim-tip-reference" title="Brauner-Osborne, H., Krogsgaard-Larsen, P. <strong>Sequence and expression pattern of a novel human orphan G-protein-coupled receptor, GPRC5B, a family C receptor with a short amino-terminal domain.</strong> Genomics 65: 121-128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10783259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10783259</a>] [<a href="https://doi.org/10.1006/geno.2000.6164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10783259">Brauner-Osborne and Krogsgaard-Larsen (2000)</a> assigned GPRC5B to family C, group 5, of the GPCR superfamily. In contrast to other members of family C, GPRC5B has a short N-terminal domain, and <a href="#1" class="mim-tip-reference" title="Brauner-Osborne, H., Krogsgaard-Larsen, P. <strong>Sequence and expression pattern of a novel human orphan G-protein-coupled receptor, GPRC5B, a family C receptor with a short amino-terminal domain.</strong> Genomics 65: 121-128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10783259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10783259</a>] [<a href="https://doi.org/10.1006/geno.2000.6164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10783259">Brauner-Osborne and Krogsgaard-Larsen (2000)</a> hypothesized that it may represent a novel subgroup of family C receptors. Using a PCR-based expression analysis, <a href="#3" class="mim-tip-reference" title="Robbins, M. J., Michalovich, D., Hill, J., Calver, A. R., Medhurst, A. D., Gloger, I., Sims, M., Middlemiss, D. N., Pangalos, M. N. <strong>Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C).</strong> Genomics 67: 8-18, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10945465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10945465</a>] [<a href="https://doi.org/10.1006/geno.2000.6226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10945465">Robbins et al. (2000)</a> detected GPRC5B transcripts at highest levels in brain, with most abundant expression in corpus callosum, caudate nucleus, putamen, substantia nigra, thalamus, hippocampus, and spinal cord. Using RT-PCR, <a href="#1" class="mim-tip-reference" title="Brauner-Osborne, H., Krogsgaard-Larsen, P. <strong>Sequence and expression pattern of a novel human orphan G-protein-coupled receptor, GPRC5B, a family C receptor with a short amino-terminal domain.</strong> Genomics 65: 121-128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10783259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10783259</a>] [<a href="https://doi.org/10.1006/geno.2000.6164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10783259">Brauner-Osborne and Krogsgaard-Larsen (2000)</a> detected widespread expression of GPRC5B, with highest levels in kidney, pancreas, and testis, and medium levels in brain, heart, prostate, small intestine, and spleen. After retinoic acid treatment, <a href="#3" class="mim-tip-reference" title="Robbins, M. J., Michalovich, D., Hill, J., Calver, A. R., Medhurst, A. D., Gloger, I., Sims, M., Middlemiss, D. N., Pangalos, M. N. <strong>Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C).</strong> Genomics 67: 8-18, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10945465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10945465</a>] [<a href="https://doi.org/10.1006/geno.2000.6226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10945465">Robbins et al. (2000)</a> observed induction of GPRC5B expression in some human transformed cell lines. Using transient transfection experiments, <a href="#3" class="mim-tip-reference" title="Robbins, M. J., Michalovich, D., Hill, J., Calver, A. R., Medhurst, A. D., Gloger, I., Sims, M., Middlemiss, D. N., Pangalos, M. N. <strong>Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C).</strong> Genomics 67: 8-18, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10945465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10945465</a>] [<a href="https://doi.org/10.1006/geno.2000.6226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10945465">Robbins et al. (2000)</a> detected GPRC5B expression on the cell surface. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10783259+10945465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In human brain tissue, <a href="#2" class="mim-tip-reference" title="Passchier, E. M. J., Kerst, S., Brouwers, E., Hamilton, E. M. C., Bisseling, Q., Bugiani, M., Waisfisz, Q., Kitchen, P., Unger, L., Breur, M., Hoogterp, L., de Vries, S. I., and 12 others. <strong>Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.</strong> Brain 146: 3444-3454, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37143309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37143309</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37143309[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/10.1093/brain/awad146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37143309">Passchier et al. (2023)</a> found expression of the GPRC5B gene in astrocyte cell bodies in white matter. GPRC5B showed clear perivascular staining, as well as localization to the glia limitans and in ependymal cells, but not in neurons. Electron microscopy showed membranous labeling of GPRC5B in the perivascular region in astrocyte endfeet, confirming proximity to MLC1 (<a href="/entry/605908">605908</a>), GlialCAM (HEPACAM; <a href="/entry/611642">611642</a>), AQP4 (<a href="/entry/600308">600308</a>), and other proteins involved in astrocyte ion and water homeostasis. Membranous labeling of GPRC5B was also observed in endothelial cells and pericytes; lymphocytes showed intracellular and membranous GPRC5B labeling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37143309" 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 STS analysis, <a href="#3" class="mim-tip-reference" title="Robbins, M. J., Michalovich, D., Hill, J., Calver, A. R., Medhurst, A. D., Gloger, I., Sims, M., Middlemiss, D. N., Pangalos, M. N. <strong>Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C).</strong> Genomics 67: 8-18, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10945465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10945465</a>] [<a href="https://doi.org/10.1006/geno.2000.6226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10945465">Robbins et al. (2000)</a> mapped the GPRC5B gene to 16p12.3-p12.1. <a href="#1" class="mim-tip-reference" title="Brauner-Osborne, H., Krogsgaard-Larsen, P. <strong>Sequence and expression pattern of a novel human orphan G-protein-coupled receptor, GPRC5B, a family C receptor with a short amino-terminal domain.</strong> Genomics 65: 121-128, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10783259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10783259</a>] [<a href="https://doi.org/10.1006/geno.2000.6164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10783259">Brauner-Osborne and Krogsgaard-Larsen (2000)</a> identified the GPRC5B sequence in a BAC clone mapped to 16p12. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10783259+10945465" 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 3 unrelated patients (P1-P3) with megalencephalic leukoencephalopathy with subcortical cysts-3 (MLC3; <a href="/entry/620447">620447</a>), <a href="#2" class="mim-tip-reference" title="Passchier, E. M. J., Kerst, S., Brouwers, E., Hamilton, E. M. C., Bisseling, Q., Bugiani, M., Waisfisz, Q., Kitchen, P., Unger, L., Breur, M., Hoogterp, L., de Vries, S. I., and 12 others. <strong>Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.</strong> Brain 146: 3444-3454, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37143309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37143309</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37143309[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/10.1093/brain/awad146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37143309">Passchier et al. (2023)</a> identified 2 different de novo heterozygous 3-bp in-frame duplications in the GPRC5B gene (<a href="#0001">605948.0001</a> and <a href="#0002">605948.0002</a>). Both mutations occurred in the fourth transmembrane protein domain. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were not present in the gnomAD database. Western blot analysis of patient lymphoblasts showed a strong increase in GPRC5B levels compared to controls. MLC1 (<a href="/entry/605908">605908</a>) levels were similar to controls, but levels of the cation channel TRPV4 (<a href="/entry/605427">605427</a>) were strongly decreased. In vitro functional studies showed that regulatory volume decrease (RVD) in patient lymphoblasts was reduced following swelling compared to controls. These findings indicated disturbed volume regulation in patient lymphoblasts, potentially due to increased GPRC5B expression. Overexpression of mutant and wildtype GPRC5B in human astrocytoma cells increased volume-regulated anion channel (VRAC) function to similar degrees. <a href="#2" class="mim-tip-reference" title="Passchier, E. M. J., Kerst, S., Brouwers, E., Hamilton, E. M. C., Bisseling, Q., Bugiani, M., Waisfisz, Q., Kitchen, P., Unger, L., Breur, M., Hoogterp, L., de Vries, S. I., and 12 others. <strong>Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.</strong> Brain 146: 3444-3454, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37143309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37143309</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37143309[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/10.1093/brain/awad146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37143309">Passchier et al. (2023)</a> suggested that increased GPRC5B expression causes chronic white matter edema by disrupting fine tuning of the essential volume-regulating channels VRAC and TRPV4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37143309" 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 unrelated patients (P1 and P2) with megalencephalic leukoencephalopathy with subcortical cysts-3 (MLC3; <a href="/entry/620447">620447</a>), <a href="#2" class="mim-tip-reference" title="Passchier, E. M. J., Kerst, S., Brouwers, E., Hamilton, E. M. C., Bisseling, Q., Bugiani, M., Waisfisz, Q., Kitchen, P., Unger, L., Breur, M., Hoogterp, L., de Vries, S. I., and 12 others. <strong>Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.</strong> Brain 146: 3444-3454, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37143309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37143309</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37143309[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/10.1093/brain/awad146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37143309">Passchier et al. (2023)</a> identified a de novo heterozygous 3-bp in-frame duplication (c.526_528dup, NM_016235.2) in the GPRC5B gene, resulting in the duplication of residue ile176 (Ile176dup) in the fourth transmembrane protein domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. Western blot analysis of patient lymphoblasts showed a strong increase in GPRC5B levels compared to controls. This increase was accompanied by impaired regulatory volume decrease (RVD) in patient lymphoblasts following swelling compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37143309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3</strong>
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GPRC5B, 3-BP DUP, NT528
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003315381" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003315381" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003315381</a>
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<p>In a patient (P3) with megalencephalic leukoencephalopathy with subcortical cysts-3 (MLC3; <a href="/entry/620447">620447</a>), <a href="#2" class="mim-tip-reference" title="Passchier, E. M. J., Kerst, S., Brouwers, E., Hamilton, E. M. C., Bisseling, Q., Bugiani, M., Waisfisz, Q., Kitchen, P., Unger, L., Breur, M., Hoogterp, L., de Vries, S. I., and 12 others. <strong>Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.</strong> Brain 146: 3444-3454, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37143309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37143309</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37143309[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/10.1093/brain/awad146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37143309">Passchier et al. (2023)</a> identified a de novo heterozygous 3-bp in-frame duplication (c.528_530dup, NM_016235.2) in the GPRC5B gene, resulting in the duplication of residue ala177 (Ala177dup) in the fourth transmembrane protein domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. Western blot analysis of patient lymphoblasts showed a strong increase in GPRC5B levels compared to controls. This increase was accompanied by impaired regulatory volume decrease (RVD) in patient lymphoblasts following swelling compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37143309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Brauner-Osborne2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Brauner-Osborne, H., Krogsgaard-Larsen, P.
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<strong>Sequence and expression pattern of a novel human orphan G-protein-coupled receptor, GPRC5B, a family C receptor with a short amino-terminal domain.</strong>
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Genomics 65: 121-128, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10783259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10783259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10783259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.2000.6164" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Passchier2023" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Passchier, E. M. J., Kerst, S., Brouwers, E., Hamilton, E. M. C., Bisseling, Q., Bugiani, M., Waisfisz, Q., Kitchen, P., Unger, L., Breur, M., Hoogterp, L., de Vries, S. I., and 12 others.
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<strong>Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.</strong>
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Brain 146: 3444-3454, 2023.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37143309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37143309</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37143309[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=37143309" 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/10.1093/brain/awad146" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Robbins2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Robbins, M. J., Michalovich, D., Hill, J., Calver, A. R., Medhurst, A. D., Gloger, I., Sims, M., Middlemiss, D. N., Pangalos, M. N.
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<strong>Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C).</strong>
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Genomics 67: 8-18, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10945465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10945465</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10945465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.2000.6226" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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Contributors:
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 07/19/2023
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Dawn Watkins-Chow : 5/18/2001
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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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alopez : 08/17/2023
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<span class="mim-text-font">
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alopez : 07/19/2023<br>ckniffin : 07/19/2023<br>alopez : 03/26/2012<br>mgross : 5/18/2001
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<strong>*</strong> 605948
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<h3>
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<span class="mim-font">
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G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER B; GPRC5B
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</h3>
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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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<span class="mim-font">
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RETINOIC ACID-INDUCIBLE GENE 2; RAIG2
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GPRC5B</em></strong>
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Cytogenetic location: 16p12.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:19,856,691-19,885,634 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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16p12.3
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<span class="mim-font">
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Megalencephalic leukoencephalopathy with subcortical cysts 3
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<span class="mim-font">
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620447
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>G protein-coupled receptors (GPCRs) share a common structure of 7 transmembrane domains, an extracellular N-terminal domain, an intracellular C-terminal domain, and several conserved residues. Family C of the GPCR superfamily, which includes GPRC5B, consists of metabotropic glutamate receptor-like proteins (e.g., GRM2; 604099) (summary by Brauner-Osborne and Krogsgaard-Larsen, 2000). </p>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<p>By searching sequence databases for metabotropic glutamate receptor homologs, Robbins et al. (2000) and Brauner-Osborne and Krogsgaard-Larsen (2000) identified cDNAs encoding GPRC5B, which Robbins et al. (2000) called RAIG2. Robbins et al. (2000) predicted that GPRC5B is a 403-amino acid protein, while Brauner-Osborne and Krogsgaard-Larsen (2000) predicted the use of a different start codon that results in a 395-amino acid protein encoded by 3 exons. The GPRC5B protein contains 7 predicted transmembrane helices and conserved cysteines characteristic of GPCRs. It also contains a predicted signal peptide and a potential N-glycosylation site. Robbins et al. (2000) reported that GPRC5B shares 43% and 38% amino acid identity with GPRC5C (605949) and RAIG1 (RAI3; 604138), respectively. Brauner-Osborne and Krogsgaard-Larsen (2000) assigned GPRC5B to family C, group 5, of the GPCR superfamily. In contrast to other members of family C, GPRC5B has a short N-terminal domain, and Brauner-Osborne and Krogsgaard-Larsen (2000) hypothesized that it may represent a novel subgroup of family C receptors. Using a PCR-based expression analysis, Robbins et al. (2000) detected GPRC5B transcripts at highest levels in brain, with most abundant expression in corpus callosum, caudate nucleus, putamen, substantia nigra, thalamus, hippocampus, and spinal cord. Using RT-PCR, Brauner-Osborne and Krogsgaard-Larsen (2000) detected widespread expression of GPRC5B, with highest levels in kidney, pancreas, and testis, and medium levels in brain, heart, prostate, small intestine, and spleen. After retinoic acid treatment, Robbins et al. (2000) observed induction of GPRC5B expression in some human transformed cell lines. Using transient transfection experiments, Robbins et al. (2000) detected GPRC5B expression on the cell surface. </p><p>In human brain tissue, Passchier et al. (2023) found expression of the GPRC5B gene in astrocyte cell bodies in white matter. GPRC5B showed clear perivascular staining, as well as localization to the glia limitans and in ependymal cells, but not in neurons. Electron microscopy showed membranous labeling of GPRC5B in the perivascular region in astrocyte endfeet, confirming proximity to MLC1 (605908), GlialCAM (HEPACAM; 611642), AQP4 (600308), and other proteins involved in astrocyte ion and water homeostasis. Membranous labeling of GPRC5B was also observed in endothelial cells and pericytes; lymphocytes showed intracellular and membranous GPRC5B labeling. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Using STS analysis, Robbins et al. (2000) mapped the GPRC5B gene to 16p12.3-p12.1. Brauner-Osborne and Krogsgaard-Larsen (2000) identified the GPRC5B sequence in a BAC clone mapped to 16p12. </p>
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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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<p>In 3 unrelated patients (P1-P3) with megalencephalic leukoencephalopathy with subcortical cysts-3 (MLC3; 620447), Passchier et al. (2023) identified 2 different de novo heterozygous 3-bp in-frame duplications in the GPRC5B gene (605948.0001 and 605948.0002). Both mutations occurred in the fourth transmembrane protein domain. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were not present in the gnomAD database. Western blot analysis of patient lymphoblasts showed a strong increase in GPRC5B levels compared to controls. MLC1 (605908) levels were similar to controls, but levels of the cation channel TRPV4 (605427) were strongly decreased. In vitro functional studies showed that regulatory volume decrease (RVD) in patient lymphoblasts was reduced following swelling compared to controls. These findings indicated disturbed volume regulation in patient lymphoblasts, potentially due to increased GPRC5B expression. Overexpression of mutant and wildtype GPRC5B in human astrocytoma cells increased volume-regulated anion channel (VRAC) function to similar degrees. Passchier et al. (2023) suggested that increased GPRC5B expression causes chronic white matter edema by disrupting fine tuning of the essential volume-regulating channels VRAC and TRPV4. </p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3</strong>
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</span>
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</h4>
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GPRC5B, 3-BP DUP, NT526
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<br />
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ClinVar: RCV003315380
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<span class="mim-text-font">
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<p>In 2 unrelated patients (P1 and P2) with megalencephalic leukoencephalopathy with subcortical cysts-3 (MLC3; 620447), Passchier et al. (2023) identified a de novo heterozygous 3-bp in-frame duplication (c.526_528dup, NM_016235.2) in the GPRC5B gene, resulting in the duplication of residue ile176 (Ile176dup) in the fourth transmembrane protein domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. Western blot analysis of patient lymphoblasts showed a strong increase in GPRC5B levels compared to controls. This increase was accompanied by impaired regulatory volume decrease (RVD) in patient lymphoblasts following swelling compared to controls. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3</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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GPRC5B, 3-BP DUP, NT528
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<br />
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ClinVar: RCV003315381
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<span class="mim-text-font">
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<p>In a patient (P3) with megalencephalic leukoencephalopathy with subcortical cysts-3 (MLC3; 620447), Passchier et al. (2023) identified a de novo heterozygous 3-bp in-frame duplication (c.528_530dup, NM_016235.2) in the GPRC5B gene, resulting in the duplication of residue ala177 (Ala177dup) in the fourth transmembrane protein domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. Western blot analysis of patient lymphoblasts showed a strong increase in GPRC5B levels compared to controls. This increase was accompanied by impaired regulatory volume decrease (RVD) in patient lymphoblasts following swelling compared to controls. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<ol>
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<li>
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<p class="mim-text-font">
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Brauner-Osborne, H., Krogsgaard-Larsen, P.
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<strong>Sequence and expression pattern of a novel human orphan G-protein-coupled receptor, GPRC5B, a family C receptor with a short amino-terminal domain.</strong>
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Genomics 65: 121-128, 2000.
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[PubMed: 10783259]
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[Full Text: https://doi.org/10.1006/geno.2000.6164]
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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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Passchier, E. M. J., Kerst, S., Brouwers, E., Hamilton, E. M. C., Bisseling, Q., Bugiani, M., Waisfisz, Q., Kitchen, P., Unger, L., Breur, M., Hoogterp, L., de Vries, S. I., and 12 others.
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<strong>Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.</strong>
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Brain 146: 3444-3454, 2023.
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[PubMed: 37143309]
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[Full Text: https://doi.org/10.1093/brain/awad146]
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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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Robbins, M. J., Michalovich, D., Hill, J., Calver, A. R., Medhurst, A. D., Gloger, I., Sims, M., Middlemiss, D. N., Pangalos, M. N.
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<strong>Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C).</strong>
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Genomics 67: 8-18, 2000.
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[PubMed: 10945465]
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[Full Text: https://doi.org/10.1006/geno.2000.6226]
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</p>
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</li>
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</ol>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 07/19/2023
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Dawn Watkins-Chow : 5/18/2001
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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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alopez : 08/17/2023<br>alopez : 07/19/2023<br>ckniffin : 07/19/2023<br>alopez : 03/26/2012<br>mgross : 5/18/2001
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