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Entry
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- *173610 - SELECTIN P; SELP
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*173610</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFamily">Gene Family</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/173610">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000174175;t=ENST00000263686" 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=6403" 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=173610" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000174175;t=ENST00000263686" 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_003005,XM_005245435,XM_005245436,XM_005245438,XM_005245439,XM_005245440,XM_047427583" 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_003005" 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=173610" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01433&isoform_id=01433_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/SELP" 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/183389,183391,3419679,22771014,34420913,34783407,46250438,119611256,119611257,119611258,119611259,119611260,157419154,189053564,530365270,530365272,530365276,530365278,530365280,957950182,957950185,2217269938,2462512388,2462512390,2462512392,2462512394,2462512396,2462512398,2664703247" 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/P16109" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=6403" 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=ENSG00000174175;t=ENST00000263686" 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=SELP" 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=SELP" 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+6403" 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/SELP" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:6403" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/6403" 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=chr1&hgg_gene=ENST00000263686.11&hgg_start=169588849&hgg_end=169630124&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=173610[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 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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<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=173610[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/SELP/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000174175" 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=SELP" 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=SELP" 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=SELP" 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=SELP&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/PA35643" 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:10721" 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:98280" 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/SELP#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:98280" 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/6403/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=6403" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00002976;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-110107-2" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6403" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SELP&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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<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 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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<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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173610
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</span>
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</span>
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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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SELECTIN P; SELP
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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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PLATELET ALPHA-GRANULE MEMBRANE PROTEIN<br />
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CD62<br />
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GRANULOCYTE MEMBRANE PROTEIN; GRMP<br />
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GMP140<br />
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P-SELECTIN
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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=SELP" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SELP</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/1/1405?start=-3&limit=10&highlight=1405">1q24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:169588849-169630124&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'})">1:169,588,849-169,630,124</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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</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="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<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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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>The gene encoding GMP-140 was cloned by Johnston et al. (<a href="#15" class="mim-tip-reference" title="Johnston, G. I., Le Beau, M. M., Lemons, R. S., McEver, R. P. <strong>Cloning of GMP-140: chromosomal localization, molecular heterogeneity and identification of cDNAs predicting both membrane bound and soluble proteins. (Abstract)</strong> Blood 72 (suppl.): 327a only, 1988."None>1988</a>, <a href="#14" class="mim-tip-reference" title="Johnston, G. I., Cook, R. G., McEver, R. P. <strong>Cloning of GMP-140, a granule membrane protein of platelets and endothelium: sequence similarity to proteins involved in cell adhesion and inflammation.</strong> Cell 56: 1033-1044, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2466574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2466574</a>] [<a href="https://doi.org/10.1016/0092-8674(89)90636-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2466574">1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2466574" 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="geneFunction" class="mim-anchor"></a>
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<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<div id="mimGeneFunctionFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>P-selectin, also called GMP-140, CD62, or selectin P, is a 140-kD adhesion molecule, expressed at the surface of activated cells, that mediates the interaction of activated endothelial cells or platelets with leukocytes. <a href="#23" class="mim-tip-reference" title="McEver, R. P., Beckstead, J. H., Moore, K. L., Marshall-Carlson, L., Bainton, D. F. <strong>GMP-140, a platelet alpha-granule membrane protein, is also synthesized by vascular endothelial cells and is localized in Weibel-Palade bodies.</strong> J. Clin. Invest. 84: 92-99, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2472431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2472431</a>] [<a href="https://doi.org/10.1172/JCI114175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2472431">McEver et al. (1989)</a> used an immunoperoxidase procedure to examine the distribution of GMP-140 in human tissues. The protein was detected in megakaryocytes and platelets, as well as in vascular endothelial cells, but was not found in a variety of other cell types examined. In endothelial cells, the protein was localized to the membranes of Weibel-Palade bodies, the intracellular storage granules for von Willebrand factor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2472431" 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>CD24 is a ligand for P-selectin; see <a href="/entry/600074">600074</a>.</p><p><a href="#6" class="mim-tip-reference" title="Florian, V., Schluter, T., Bohnensack, R. <strong>A new member of the sorting nexin family interacts with the C-terminus of P-selectin.</strong> Biochem. Biophys. Res. Commun. 281: 1045-1050, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11237770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11237770</a>] [<a href="https://doi.org/10.1006/bbrc.2001.4467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11237770">Florian et al. (2001)</a> demonstrated that sorting nexin-17 (SNX17; <a href="/entry/605963">605963</a>) interacts with the cytosolic domain of P-selectin and suggested that SNX17 may function in the intracellular trafficking of P-selectin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11237770" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Lages, B., Shattil, S. J., Bainton, D. F., Weiss, H. J. <strong>Decreased content and surface expression of alpha-granule membrane protein GMP-140 in one of two types of platelet alpha-delta storage pool deficiency.</strong> J. Clin. Invest. 87: 919-929, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1705568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1705568</a>] [<a href="https://doi.org/10.1172/JCI115099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1705568">Lages et al. (1991)</a> found reduced content and surface expression of the GMP-140 protein in 1 form of platelet alpha/delta storage pool deficiency (see <a href="/entry/185050">185050</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1705568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 29-year-old patient with a lifelong bleeding disorder characterized by highly increased bleeding time, menorrhagias, long-lasting bleeding after cuts and tooth extractions, and large posttraumatic hematomas, <a href="#22" class="mim-tip-reference" title="Mazurov, A. V., Vinogradov, D. V., Khaspekova, S. G., Krushinsky, A. V., Gerdeva, L. V., Vasiliev, S. A. <strong>Deficiency of P-selectin in a patient with grey platelet syndrome.</strong> Europ. J. Haemat. 57: 38-41, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8698129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8698129</a>] [<a href="https://doi.org/10.1111/j.1600-0609.1996.tb00487.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8698129">Mazurov et al. (1996)</a> made a diagnosis of gray platelet syndrome (<a href="/entry/139090">139090</a>). Furthermore, they showed by quantitative immunoblotting that the patient's platelets contained only about 15% of the control values of P-selectin. The content of plasma membrane glycoproteins IIb/IIIa (<a href="/entry/607759">607759</a>/<a href="/entry/173470">173470</a>) and Ib (<a href="/entry/231200">231200</a>) was not reduced, suggesting a specific deficiency of alpha-granule membrane protein. <a href="#18" class="mim-tip-reference" title="Lages, B., Shattil, S. J., Bainton, D. F., Weiss, H. J. <strong>Decreased content and surface expression of alpha-granule membrane protein GMP-140 in one of two types of platelet alpha-delta storage pool deficiency.</strong> J. Clin. Invest. 87: 919-929, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1705568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1705568</a>] [<a href="https://doi.org/10.1172/JCI115099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1705568">Lages et al. (1991)</a> likewise found a combined deficiency of alpha-granules and P-selectin in the gray platelet syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1705568+8698129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Koyama, H., Maeno, T., Fukumoto, S., Shoji, T., Yamane, T., Yokoyama, H., Emoto, M., Shoji, T., Tahara, H., Inaba, M., Hino, M., Shioi, A., Miki, T., Nishizawa, Y. <strong>Platelet P-selectin expression is associated with atherosclerotic wall thickness in carotid artery in humans.</strong> Circulation 108: 524-529, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12860908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12860908</a>] [<a href="https://doi.org/10.1161/01.CIR.0000081765.88440.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12860908">Koyama et al. (2003)</a> determined P-selectin expression in 517 unrelated Japanese patients, including 187 with type II diabetes (<a href="/entry/125853">125853</a>), 184 with hypertension, and 366 with hyperlipidemia. P-selectin expression was found to be significantly and positively correlated with carotid artery stiffness and wall thickness, and the percentage of P-selectin-positive platelets was significantly higher in patients with carotid plaque (p less than 0.0001). The percentage of P-selectin-positive platelets was independently associated with both carotid wall thickness and carotid plaque, by multiple and logistic regression analyses, respectively. In addition, the percentage of P-selectin-positive platelets was positively associated with age, body mass index, systolic and diastolic blood pressure, and glycosylated hemoglobin, and inversely associated with high density lipoprotein (HDL) cholesterol. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12860908" 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>The lymph node homing receptor (LAM1; <a href="/entry/153240">153240</a>), granule membrane protein-140 (GMP-140), and endothelial leukocyte adhesion molecule-1 (ELAM1; <a href="/entry/131210">131210</a>) are thought to comprise an adhesion protein family, known as the selectins, that arose by multiple gene duplication events before divergence of mouse and human (<a href="#27" class="mim-tip-reference" title="Watson, M. L., Kingsmore, S. F., Johnston, G. I., Siegelman, M. H., Le Beau, M. M., Lemons, R. S., Bora, N. S., Howard, T. A., Weissman, I. L., McEver, R. P., Seldin, M. F. <strong>Genomic organization of the selectin family of leukocyte adhesion molecules on human and mouse chromosome 1.</strong> J. Exp. Med. 172: 263-272, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1694218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1694218</a>] [<a href="https://doi.org/10.1084/jem.172.1.263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1694218">Watson et al., 1990</a>). The location of these genes on mouse and human chromosome 1, furthermore, is consistent with a close evolutionary relationship to the complement receptor-related genes, which also are positioned on the same chromosomes in both species and with which these genes share a region of sequence homology. <a href="#27" class="mim-tip-reference" title="Watson, M. L., Kingsmore, S. F., Johnston, G. I., Siegelman, M. H., Le Beau, M. M., Lemons, R. S., Bora, N. S., Howard, T. A., Weissman, I. L., McEver, R. P., Seldin, M. F. <strong>Genomic organization of the selectin family of leukocyte adhesion molecules on human and mouse chromosome 1.</strong> J. Exp. Med. 172: 263-272, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1694218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1694218</a>] [<a href="https://doi.org/10.1084/jem.172.1.263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1694218">Watson et al. (1990)</a> observed that this region of 1q appears to be critical for intercellular communication within the immune system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1694218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="Johnston, G. I., Bliss, G. A., Newman, P. J., McEver, R. P. <strong>Structure of the human gene encoding granule membrane protein-140, a member of the selectin family of adhesion receptors for leukocytes.</strong> J. Biol. Chem. 265: 21381-21385, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1701178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1701178</a>]" pmid="1701178">Johnston et al. (1990)</a> found that the GMP140 gene spans over 50 kb and contains 17 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1701178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By gene linkage analysis in the mouse, <a href="#27" class="mim-tip-reference" title="Watson, M. L., Kingsmore, S. F., Johnston, G. I., Siegelman, M. H., Le Beau, M. M., Lemons, R. S., Bora, N. S., Howard, T. A., Weissman, I. L., McEver, R. P., Seldin, M. F. <strong>Genomic organization of the selectin family of leukocyte adhesion molecules on human and mouse chromosome 1.</strong> J. Exp. Med. 172: 263-272, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1694218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1694218</a>] [<a href="https://doi.org/10.1084/jem.172.1.263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1694218">Watson et al. (1990)</a> showed that the LAM1, GMP140, and ELAM1 genes, as well as the gene encoding coagulation factor V (<a href="/entry/612309">612309</a>), mapped to a region of distal mouse chromosome 1 that is syntenic with human chromosome 1; no crossovers were identified among these 4 genes in 428 meiotic events. Long-range restriction site mapping demonstrated that these genes map to within 300 kb in both the human and mouse genomes. By in situ hybridization, <a href="#27" class="mim-tip-reference" title="Watson, M. L., Kingsmore, S. F., Johnston, G. I., Siegelman, M. H., Le Beau, M. M., Lemons, R. S., Bora, N. S., Howard, T. A., Weissman, I. L., McEver, R. P., Seldin, M. F. <strong>Genomic organization of the selectin family of leukocyte adhesion molecules on human and mouse chromosome 1.</strong> J. Exp. Med. 172: 263-272, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1694218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1694218</a>] [<a href="https://doi.org/10.1084/jem.172.1.263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1694218">Watson et al. (1990)</a> mapped the human GMP140 gene to 1q21-q24. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1694218" 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>Bonds between adhesion molecules are often mechanically stressed. It has been suggested that force could either shorten bond lifetimes, because work done by the force could lower the energy barrier between the bound and free states ('slip'), or prolong bond lifetimes by deforming the molecules such that they lock more tightly ('catch'). Using atomic force microscopy and flow-chamber experiments, <a href="#20" class="mim-tip-reference" title="Marshall, B. T., Long, M., Piper, J. W., Yago, T., McEver, R. P., Zhu, C. <strong>Direct observation of catch bonds involving cell-adhesion molecules.</strong> Nature 423: 190-193, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12736689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12736689</a>] [<a href="https://doi.org/10.1038/nature01605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12736689">Marshall et al. (2003)</a> showed that increasing force first prolonged and then shortened the lifetime of P-selectin complexes with P-selectin glycoprotein ligand-1 (<a href="/entry/600738">600738</a>), revealing both catch and slip bond behavior. Transitions between catch and slip bonds might explain why leukocyte rolling on selectins first increases and then decreases as wall shear stress increases. <a href="#20" class="mim-tip-reference" title="Marshall, B. T., Long, M., Piper, J. W., Yago, T., McEver, R. P., Zhu, C. <strong>Direct observation of catch bonds involving cell-adhesion molecules.</strong> Nature 423: 190-193, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12736689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12736689</a>] [<a href="https://doi.org/10.1038/nature01605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12736689">Marshall et al. (2003)</a> concluded that this dual response to force provides a mechanism for regulating cell adhesion under conditions of variable mechanical stress. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12736689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Bevilacqua, M., Butcher, E., Furie, B., Furie, B., Gallatin, M., Gimbrone, M., Harlan, J., Kishimoto, K., Lasky, L., McEver, R., Paulson, J., Rosen, S., Seed, B., Siegelman, M., Springer, T., Stoolman, L., Tedder, T., Varki, A., Wagner, D., Weissman, I., Zimmerman, G. <strong>Selectins: a family of adhesion receptors. (Letter)</strong> Cell 67: 233 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1717161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1717161</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90174-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1717161">Bevilacqua et al. (1991)</a> recommended that the homologous proteins involved in cell-cell adhesion events should be named selectins to reflect the involvement of carbohydrate recognition in their functions. Individual members of the family would be designated by a prefix capital letter, as is done for the cadherins (e.g., <a href="/entry/114020">114020</a>). Letters would be chosen based on the tissue of original discovery and would not imply cell-type specificity. Accordingly, CD62 was named P-selectin. See review of selectins by <a href="#3" class="mim-tip-reference" title="Bevilacqua, M. P., Nelson, R. M. <strong>Selectins.</strong> J. Clin. Invest. 91: 379-387, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7679406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7679406</a>] [<a href="https://doi.org/10.1172/JCI116210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7679406">Bevilacqua and Nelson (1993)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7679406+1717161" 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>P-selectin expression is increased in atherosclerotic plaques, and high plasma levels of this molecule are found in patients with unstable angina. <a href="#9" class="mim-tip-reference" title="Herrmann, S.-M., Ricard, S., Nicaud, V., Mallet, C., Evans, A., Ruidavets, J.-B., Arveiler, D., Luc, G., Cambien, F. <strong>The P-selectin gene is highly polymorphic: reduced frequency of the pro715 allele carriers in patients with myocardial infarction.</strong> Hum. Molec. Genet. 7: 1277-1284, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9668170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9668170</a>] [<a href="https://doi.org/10.1093/hmg/7.8.1277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9668170">Herrmann et al. (1998)</a> investigated the P-selectin gene as a possible candidate for myocardial infarction. They screened the sequences of the 5-prime flanking region and exons of 40 alleles from patients with myocardial infarction for polymorphisms, using PCR/SSCP and sequencing. Thirteen polymorphisms were identified: 5 were in the 5-prime flanking sequences and 8 were in the exonic sequences. Four polymorphisms (S290N, N562D, L599V, and T715P) predicted a change in the amino acid sequence of the protein. <a href="#9" class="mim-tip-reference" title="Herrmann, S.-M., Ricard, S., Nicaud, V., Mallet, C., Evans, A., Ruidavets, J.-B., Arveiler, D., Luc, G., Cambien, F. <strong>The P-selectin gene is highly polymorphic: reduced frequency of the pro715 allele carriers in patients with myocardial infarction.</strong> Hum. Molec. Genet. 7: 1277-1284, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9668170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9668170</a>] [<a href="https://doi.org/10.1093/hmg/7.8.1277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9668170">Herrmann et al. (1998)</a> investigated all P-selectin polymorphisms as well as a common E-selectin polymorphism, ser128 to arg, which had been reported as being associated with an increased risk of premature coronary heart disease and to be in tight linkage disequilibrium with several P-selectin polymorphisms, in 647 patients with myocardial infarction and 758 control subjects from 4 regions of France and Northern Ireland. (The P-selectin and E-selectin genes are tightly linked on 1q.) The entire set of P-selectin polymorphisms provided a heterozygosity of 91%. The polymorphisms were tightly associated with one another and displayed patterns of linkage disequilibrium suggesting the existence of highly conserved ancestral haplotypes. The 5 polymorphisms in the 5-prime flanking region of the gene were unrelated to MI or any relevant phenotype measured in the study, which went by the designation ECTIM (Etude Cas-Temoins de l'Infarctus du Myocarde). They inferred that the 4 missense variants identified in the coding region predicted 8 common forms of the P-selectin protein. The pro715 allele that characterized 1 of these forms was less frequent in France than in Northern Ireland (P less than 0.002) and in cases than in controls (P less than 0.002; P less than 0.02 after correction for the number of tests). <a href="#9" class="mim-tip-reference" title="Herrmann, S.-M., Ricard, S., Nicaud, V., Mallet, C., Evans, A., Ruidavets, J.-B., Arveiler, D., Luc, G., Cambien, F. <strong>The P-selectin gene is highly polymorphic: reduced frequency of the pro715 allele carriers in patients with myocardial infarction.</strong> Hum. Molec. Genet. 7: 1277-1284, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9668170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9668170</a>] [<a href="https://doi.org/10.1093/hmg/7.8.1277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9668170">Herrmann et al. (1998)</a> concluded that the P-selectin gene is highly polymorphic and hypothesized that the pro715 variant may be protective for MI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9668170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Tregouet, D.-A., Barbaux, S., Escolano, S., Tahri, N., Golmard, J.-L., Tiret, L., Cambien, F. <strong>Specific haplotypes of the P-selectin gene are associated with myocardial infarction.</strong> Hum. Molec. Genet. 11: 2015-2023, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12165563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12165563</a>] [<a href="https://doi.org/10.1093/hmg/11.17.2015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12165563">Tregouet et al. (2002)</a> performed haplotype analysis in a sample of 582 cases and 630 controls from a French myocardial infarction study. Whereas haplotypes defined by the polymorphisms located in the promoter region of the gene were unrelated to MI, those defined by the polymorphisms in the coding region were globally associated with MI. Detailed haplotype analysis confirmed the protective effect of the P715 allele (<a href="#0001">173610.0001</a>), and additionally revealed that the presence of 2 asparagine codons was associated with a higher risk of MI, but only when they were carried by the same haplotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12165563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To avoid problems related to unknown population substructure, association studies may be conducted in founder populations. However, in such populations, the relatedness among individuals may be considerable and may lead to seriously spurious associations. <a href="#4" class="mim-tip-reference" title="Bourgain, C., Hoffjan, S., Nicolae, R., Newman, D., Steiner, L., Walker, K., Reynolds, R., Ober, C., McPeek, M. S. <strong>Novel case-control test in a founder population identifies P-selectin as an atopy-susceptibility locus.</strong> Am. J. Hum. Genet. 73: 612-626, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12929084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12929084</a>] [<a href="https://doi.org/10.1086/378208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12929084">Bourgain et al. (2003)</a> proposed a method for case-control association studies of binary traits that is suitable for any set of related individuals, provided that their genealogy is known. They used 2 methods to test for associations between 3 asthma-associated phenotypes and 48 SNPs in 35 candidate genes in the Hutterites. They reported a highly significant association (P = 0.000002) between atopy (see <a href="/entry/147050">147050</a>) and a val640-to-leu polymorphism in the P-selectin gene (V640L; <a href="/entry/176310#0002">176310.0002</a>) detected with what they referred to as the quasi-likelihood score (QLS) test and also, but less significantly (P = 0.0014), with the transmission/disequilibrium test. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12929084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Zee, R. Y. L., Cook, N. R., Cheng, S., Reynolds, R., Erlich, H. A., Lindpaintner, K., Ridker, P. M. <strong>Polymorphism in the P-selectin and interleukin-4 genes as determinants of stroke: a population-based, prospective genetic analysis.</strong> Hum. Molec. Genet. 13: 389-396, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14681304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14681304</a>] [<a href="https://doi.org/10.1093/hmg/ddh039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14681304">Zee et al. (2004)</a> collected DNA samples at baseline in a prospective cohort of 14,916 initially healthy American men. The authors then genotyped 92 polymorphisms from 56 candidate genes among 319 individuals who subsequently developed ischemic stroke and among 2,092 individuals who remained free of reported cardiovascular disease over a mean follow-up period of 13.2 years. The V640L polymorphism in the SELP gene and a 582C-T transition in the IL4 gene (<a href="/entry/147780">147780</a>) were found to be independent predictors of thromboembolic stroke (odds ratio of 1.63, P = 0.001, and odds ratio of 1.40, P = 0.003, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14681304" 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>P-selectin and intercellular adhesion molecule-1 (ICAM1; <a href="/entry/147840">147840</a>) participate in inflammatory processes by promoting adhesion of leukocytes to vascular wall endothelium. Their soluble levels have been associated with adverse cardiovascular events. To identify loci affecting soluble levels of P-selectin (sP-selectin) and ICAM1 (sICAM1), <a href="#1" class="mim-tip-reference" title="Barbalic, M., Dupuis, J., Dehghan, A., Bis, J. C., Hoogeveen, R. C., Schnabel, R. B., Nambi, V., Bretler, M., Smith, N. L., Peters, A., Lu, C., Tracy, R. P., and 20 others. <strong>Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.</strong> Hum. Molec. Genet. 19: 1863-1872, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20167578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20167578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20167578[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/hmg/ddq061" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20167578">Barbalic et al. (2010)</a> performed a genomewide association study in a sample of 4,115 (sP-selectin) and 9,813 (sICAM1) individuals of European ancestry. The most significant SNP association for sP-selectin was within SELP (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs6136;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs6136</a>) and for sICAM1 levels within ICAM1 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3093030;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3093030</a>). Both sP-selection and sICAM1 were associated with ABO (<a href="/entry/110300">110300</a>) gene variants (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs579459;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs579459</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs649129;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs649129</a>, respectively), and in both cases the observed associations could be accounted for by the A1 allele of the ABO blood group. The absence of an association between ABO blood group and platelet-bound P-selectin levels in an independent subsample (n = 1,088) suggested that the ABO blood group may influence cleavage of the P-selectin protein from the cell surface or clearance from the circulation, rather than its production and cellular presentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20167578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#21" class="mim-tip-reference" title="Mayadas, T. N., Johnson, R. C., Rayburn, H., Hynes, R. O., Wagner, D. D. <strong>Leukocyte rolling and extravasation are severely compromised in P selectin-deficient mice.</strong> Cell 74: 541-554, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688665</a>] [<a href="https://doi.org/10.1016/0092-8674(93)80055-j" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7688665">Mayadas et al. (1993)</a> generated P-selectin-deficient mice by gene targeting in embryonic stem cells and found that they exhibited a number of defects in leukocyte behavior, including elevated numbers of circulating neutrophils, virtually total absence of leukocyte rolling in mesenteric venules, and delayed recruitment of neutrophils to the peritoneal cavity upon experimentally induced inflammation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7688665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mouse model of glomerulonephritis, <a href="#25" class="mim-tip-reference" title="Rosenkranz, A. R., Mendrick, D. L., Cotran, R. S., Mayadas, T. N. <strong>P-selectin deficiency exacerbates experimental glomerulonephritis: a protective role for endothelial P-selectin in inflammation.</strong> J. Clin. Invest. 103: 649-659, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10074481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10074481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10074481[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/10.1172/JCI5183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10074481">Rosenkranz et al. (1999)</a> observed that P-selectin-null mice exhibited more severe glomerular damage with significantly increased proteinuria and mortality compared to wildtype mice. Chimeric mice with only platelet P-selectin had glomerular injury similar to null mice, whereas chimeras with only endothelial cell P-selectin had injury similar to wildtype mice. Levels of soluble P-selectin were inversely associated with severity of disease; P-selectin was not expressed in the endothelium of the glomerulus or interstitium. <a href="#25" class="mim-tip-reference" title="Rosenkranz, A. R., Mendrick, D. L., Cotran, R. S., Mayadas, T. N. <strong>P-selectin deficiency exacerbates experimental glomerulonephritis: a protective role for endothelial P-selectin in inflammation.</strong> J. Clin. Invest. 103: 649-659, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10074481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10074481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10074481[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/10.1172/JCI5183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10074481">Rosenkranz et al. (1999)</a> concluded that part of the protective effect in wildtype mice might be accounted for by soluble P-selectin shed by nonrenal epithelial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10074481" 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>Soluble P-selectin is increased in many diseases, including atherosclerosis, in which soluble P-selectin is derived mostly from endothelial cells (<a href="#5" class="mim-tip-reference" title="Burger, P. C., Wagner, D. D. <strong>Platelet P-selectin facilitates atherosclerotic lesion development.</strong> Blood 101: 2661-2666, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12480714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12480714</a>] [<a href="https://doi.org/10.1182/blood-2002-07-2209" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12480714">Burger and Wagner, 2003</a>). High levels of soluble P-selectin are predictive of future cardiovascular events (<a href="#11" class="mim-tip-reference" title="Hillis, G. S., Terregino, C., Taggart, P., Killian, A., Zhao, N., Dalsey, W. C., Mangione, A. <strong>Elevated soluble P-selectin levels are associated with an increased risk of early adverse effects in patients with presumed myocardial ischemia.</strong> Am. Heart J. 143: 235-241, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11835025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11835025</a>] [<a href="https://doi.org/10.1067/mhj.2002.120303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11835025">Hillis et al., 2002</a>; <a href="#24" class="mim-tip-reference" title="Ridker, P. M., Buring, J. E., Rifai, N. <strong>Soluble P-selectin and the risk of future cardiovascular events.</strong> Circulation 103: 491-495, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157711</a>] [<a href="https://doi.org/10.1161/01.cir.103.4.491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11157711">Ridker et al., 2001</a>). Mice with high levels of soluble P-selectin have more microparticles in their plasma than do normal mice. <a href="#12" class="mim-tip-reference" title="Hrachovinova, I., Cambien, B., Hafezi-Moghadam, A., Kappelmayer, J., Camphausen, R. T., Widom, A., Xia, L., Kazazian, H. H., Jr., Schaub, R. G., McEver, R. P., Wagner, D. D. <strong>Interaction of P-selectin and PSGL-1 generates microparticles that correct hemostasis in a mouse model of hemophilia A.</strong> Nature Med. 9: 1020-1025, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12858167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12858167</a>] [<a href="https://doi.org/10.1038/nm899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12858167">Hrachovinova et al. (2003)</a> showed that molecular chimeras of P-selectin and immunoglobulin (P-sel--Ig) induced formation of procoagulant microparticles in human blood through its receptor P-selectin glycoprotein ligand-1 (PSGL1; <a href="/entry/600738">600738</a>), also known as selectin P ligand. Psgl1 -/- mice produced fewer microparticles after P-sel--Ig infusion and did not spontaneously increase their microparticle count in old age as do wildtype mice. Injected microparticles specifically bound to thrombi and thus could be involved in thrombin generation at sites of injury. Infusion of P-sel--Ig into hemophilia A mice produced a 20-fold increase over control immunoglobulin in microparticles containing tissue factor. This significantly improved the kinetics of fibrin formation in the hemophilia A mice and normalized their tail-bleeding time. It was suggested that P-sel--Ig treatment could become a new approach to sustained control of bleeding in hemophilia. The activity of P-selectin would bypass factors VIII (<a href="/entry/300841">300841</a>) or IX (<a href="/entry/300746">300746</a>) by producing tissue factor and escape the problem of development of antibodies to factor VIII that occurs in 20 to 50% of hemophilia A (<a href="/entry/306700">306700</a>) patients, making further treatment difficult. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12858167+11157711+11835025+12480714" 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>P-selectin contributes to both bronchoconstriction and inflammation in mouse models of allergic airway reactivity (<a href="#19" class="mim-tip-reference" title="Lukacs, N. W., John, A., Berlin, A., Bullard, D. C., Knibbs, R., Stoolman, L. M. <strong>E- and P-selectins are essential for the development of cockroach allergen-induced airway responses.</strong> J. Immun. 169: 2120-2125, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12165540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12165540</a>] [<a href="https://doi.org/10.4049/jimmunol.169.4.2120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12165540">Lukacs et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12165540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Forlow, S. B., White, E. J., Thomas, K. L., Bagby, G. J., Foley, P. L., Ley, K. <strong>T cell requirement for development of chronic ulcerative dermatitis in E- and P-selectin-deficient mice.</strong> J. Immun. 169: 4797-4804, 2002. Note: Erratum: J. Immun. 170: 643 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12391189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12391189</a>] [<a href="https://doi.org/10.4049/jimmunol.169.9.4797" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12391189">Forlow et al. (2002)</a> stated that mice lacking both Selp and Sele (<a href="/entry/131210">131210</a>) kept under specific pathogen-free barrier conditions have high circulating neutrophil counts and develop hypercellular cervical lymph nodes containing numerous plasma cells, severe ulcerative dermatitis, conjunctivitis, and lung pathology, eventually leading to premature death. They hypothesized that the pathology in Selp and Sele double-knockout mice might be due to dysfunctional lymphocyte activity and, to test this hypothesis, they crossed Selp and Sele double-knockout mice with mice deficient in Rag1 (<a href="/entry/179615">179615</a>), which lack mature T and B lymphocytes. The triple-knockout mice had high circulating neutrophil counts and plasma Gcsf (CSF3; <a href="/entry/138970">138970</a>), but none developed the conjunctivitis or dermatitis observed in Selp and Sele double-knockout mice. Histopathologic analysis revealed fewer lung anomalies and smaller cervical lymph nodes, which contained few mononuclear cells and no plasma cells, in triple-knockout mice compared with Selp and Sele double-knockout mice. <a href="#7" class="mim-tip-reference" title="Forlow, S. B., White, E. J., Thomas, K. L., Bagby, G. J., Foley, P. L., Ley, K. <strong>T cell requirement for development of chronic ulcerative dermatitis in E- and P-selectin-deficient mice.</strong> J. Immun. 169: 4797-4804, 2002. Note: Erratum: J. Immun. 170: 643 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12391189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12391189</a>] [<a href="https://doi.org/10.4049/jimmunol.169.9.4797" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12391189">Forlow et al. (2002)</a> concluded that the severe disease phenotype, but not the elevated neutrophil counts, in Selp and Sele double-knockout mice depends on lymphocyte function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12391189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using fluorescence intravital microscopy (IVM) with homing assays, <a href="#10" class="mim-tip-reference" title="Hidalgo, A., Weiss, L. A., Frenette, P. S. <strong>Functional selectin ligands mediating human CD34+ cell interactions with bone marrow endothelium are enhanced postnatally.</strong> J. Clin. Invest. 110: 559-569, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12189250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12189250</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12189250[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/10.1172/JCI14047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12189250">Hidalgo et al. (2002)</a> examined the repopulation of bone marrow of sublethally irradiated nonobese diabetic (NOD)/severe combined immunodeficiency (SCID) mice, which have multiple defects in innate and adaptive immunologic functions, with human CD34 (<a href="/entry/142230">142230</a>)-positive hematopoietic progenitor cells obtained either from cord blood or from adult bone marrow or peripheral blood. Human hematopoietic progenitor cells rolled and arrested in NOD/SCID bone marrow microvessels, and the rolling capacity of neonatal cord blood cells was much lower than that of adult cells. Rolling and retention were nearly abolished in NOD/SCID Selp -/- Sele -/- mice and in NOD/SCID Sele -/- mice. Flow cytometric and IVM analyses suggested that the neonatal defect resulted from expression of a nonfunctional form of SELPLG on cord blood CD34-positive cells that were unable to bind Selp. This subset of cells was enriched in CD34-positive/CD38 (<a href="/entry/107270">107270</a>)-low/negative progenitors. <a href="#10" class="mim-tip-reference" title="Hidalgo, A., Weiss, L. A., Frenette, P. S. <strong>Functional selectin ligands mediating human CD34+ cell interactions with bone marrow endothelium are enhanced postnatally.</strong> J. Clin. Invest. 110: 559-569, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12189250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12189250</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12189250[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/10.1172/JCI14047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12189250">Hidalgo et al. (2002)</a> proposed that manipulation of expression of selectins and their ligands may improve homing of cord blood CD34-positive cells to bone marrow. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12189250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Kisucka, J., Chauhan, A. K., Zhao, B.-Q., Patten, I. S., Yesilaltay, A., Krieger, M., Wagner, D. D. <strong>Elevated levels of soluble P-selectin in mice alter blood-brain barrier function, exacerbate stroke, and promote atherosclerosis.</strong> Blood 113: 6015-6022, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19349621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19349621</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19349621[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/10.1182/blood-2008-10-186650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19349621">Kisucka et al. (2009)</a> examined mice in which the endogenous P-selectin gene had been replaced with a mutant that produced abnormally high plasma levels of soluble P-selectin. Mutant mice presented several abnormalities, including higher blood-brain barrier permeability, with 25% of animals showing differential permeability between right and left hemispheres; altered social behavior with increased aggression; larger infarcts in the middle cerebral artery occlusion ischemic stroke model; and increased susceptibility to development of atherosclerotic, macrophage-rich lesions when coupled with apoE (<a href="/entry/107741">107741</a>) knockout. <a href="#16" class="mim-tip-reference" title="Kisucka, J., Chauhan, A. K., Zhao, B.-Q., Patten, I. S., Yesilaltay, A., Krieger, M., Wagner, D. D. <strong>Elevated levels of soluble P-selectin in mice alter blood-brain barrier function, exacerbate stroke, and promote atherosclerosis.</strong> Blood 113: 6015-6022, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19349621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19349621</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19349621[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/10.1182/blood-2008-10-186650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19349621">Kisucka et al. (2009)</a> concluded that elevated soluble P-selectin contributes directly to atherosclerosis and cerebrovascular disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19349621" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>2 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=173610[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 SELECTIN P POLYMORPHISM</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs6136 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs6136;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs6136?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs6136" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs6136" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#9" class="mim-tip-reference" title="Herrmann, S.-M., Ricard, S., Nicaud, V., Mallet, C., Evans, A., Ruidavets, J.-B., Arveiler, D., Luc, G., Cambien, F. <strong>The P-selectin gene is highly polymorphic: reduced frequency of the pro715 allele carriers in patients with myocardial infarction.</strong> Hum. Molec. Genet. 7: 1277-1284, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9668170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9668170</a>] [<a href="https://doi.org/10.1093/hmg/7.8.1277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9668170">Herrmann et al. (1998)</a> identified a thr715-to-pro polymorphism of the SELP gene and found negative association suggesting that the pro715 variant may be protective for myocardial infarction. The study was performed in Belfast, Northern Ireland, and in 4 regions of France. The association was not significantly heterogeneous between the 2 countries. In Belfast, the pro715 allele had a frequency of 0.174 and 0.098 in controls and cases, respectively; in France, the pro715 allele had a frequency of 0.107 and 0.085 in controls and cases, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9668170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014483" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014483" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014483</a>
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<p>This variant, formerly titled ATOPY, SUSCEPTIBILITY TO, has been reclassified as a polymorphism based on its frequency in the ExAC database (<a href="#8" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. July 31, 2017."None>Hamosh, 2017</a>).</p><p><a href="#4" class="mim-tip-reference" title="Bourgain, C., Hoffjan, S., Nicolae, R., Newman, D., Steiner, L., Walker, K., Reynolds, R., Ober, C., McPeek, M. S. <strong>Novel case-control test in a founder population identifies P-selectin as an atopy-susceptibility locus.</strong> Am. J. Hum. Genet. 73: 612-626, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12929084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12929084</a>] [<a href="https://doi.org/10.1086/378208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12929084">Bourgain et al. (2003)</a> found a highly significant association between a val640-to-leu (V640L) polymorphism in the SELP gene and atopy (see <a href="/entry/147050">147050</a>). Although associations between polymorphisms in SELP and asthma-related phenotypes had not previously been reported, P-selectin was considered an outstanding functional candidate. <a href="#4" class="mim-tip-reference" title="Bourgain, C., Hoffjan, S., Nicolae, R., Newman, D., Steiner, L., Walker, K., Reynolds, R., Ober, C., McPeek, M. S. <strong>Novel case-control test in a founder population identifies P-selectin as an atopy-susceptibility locus.</strong> Am. J. Hum. Genet. 73: 612-626, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12929084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12929084</a>] [<a href="https://doi.org/10.1086/378208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12929084">Bourgain et al. (2003)</a> concluded that the common val630 allele is a risk allele for atopy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12929084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. July 31, 2017."None>Hamosh (2017)</a> noted that the V604L variant was found in 15,436 of 121,310 alleles and in 2,223 homozygotes (allele frequency of 0.1272) in the ExAC database (July 31, 2017).</p>
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Barbalic, M., Dupuis, J., Dehghan, A., Bis, J. C., Hoogeveen, R. C., Schnabel, R. B., Nambi, V., Bretler, M., Smith, N. L., Peters, A., Lu, C., Tracy, R. P., and 20 others.
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<strong>Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.</strong>
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Hum. Molec. Genet. 19: 1863-1872, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20167578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20167578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20167578[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=20167578" 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/hmg/ddq061" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(91)90174-w" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI116210" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/378208" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1182/blood-2002-07-2209" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/bbrc.2001.4467" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.4049/jimmunol.169.9.4797" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/7.8.1277" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI14047" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1067/mhj.2002.120303" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nm899" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Lukacs2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lukacs, N. W., John, A., Berlin, A., Bullard, D. C., Knibbs, R., Stoolman, L. M.
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<strong>E- and P-selectins are essential for the development of cockroach allergen-induced airway responses.</strong>
|
|
J. Immun. 169: 2120-2125, 2002.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12165540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12165540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12165540" 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/10.4049/jimmunol.169.4.2120" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Marshall2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marshall, B. T., Long, M., Piper, J. W., Yago, T., McEver, R. P., Zhu, C.
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<strong>Direct observation of catch bonds involving cell-adhesion molecules.</strong>
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Nature 423: 190-193, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12736689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12736689</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12736689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature01605" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Mayadas1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mayadas, T. N., Johnson, R. C., Rayburn, H., Hynes, R. O., Wagner, D. D.
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<strong>Leukocyte rolling and extravasation are severely compromised in P selectin-deficient mice.</strong>
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Cell 74: 541-554, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7688665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(93)80055-j" target="_blank">Full Text</a>]
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Mazurov1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mazurov, A. V., Vinogradov, D. V., Khaspekova, S. G., Krushinsky, A. V., Gerdeva, L. V., Vasiliev, S. A.
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<strong>Deficiency of P-selectin in a patient with grey platelet syndrome.</strong>
|
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Europ. J. Haemat. 57: 38-41, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8698129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8698129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8698129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1600-0609.1996.tb00487.x" target="_blank">Full Text</a>]
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</p>
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<a id="23" class="mim-anchor"></a>
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<a id="McEver1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McEver, R. P., Beckstead, J. H., Moore, K. L., Marshall-Carlson, L., Bainton, D. F.
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<strong>GMP-140, a platelet alpha-granule membrane protein, is also synthesized by vascular endothelial cells and is localized in Weibel-Palade bodies.</strong>
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J. Clin. Invest. 84: 92-99, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2472431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2472431</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2472431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI114175" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Ridker2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ridker, P. M., Buring, J. E., Rifai, N.
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<strong>Soluble P-selectin and the risk of future cardiovascular events.</strong>
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Circulation 103: 491-495, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157711</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11157711" 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/10.1161/01.cir.103.4.491" target="_blank">Full Text</a>]
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Rosenkranz1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rosenkranz, A. R., Mendrick, D. L., Cotran, R. S., Mayadas, T. N.
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<strong>P-selectin deficiency exacerbates experimental glomerulonephritis: a protective role for endothelial P-selectin in inflammation.</strong>
|
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J. Clin. Invest. 103: 649-659, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10074481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10074481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10074481[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=10074481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI5183" target="_blank">Full Text</a>]
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Tregouet2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tregouet, D.-A., Barbaux, S., Escolano, S., Tahri, N., Golmard, J.-L., Tiret, L., Cambien, F.
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<strong>Specific haplotypes of the P-selectin gene are associated with myocardial infarction.</strong>
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Hum. Molec. Genet. 11: 2015-2023, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12165563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12165563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12165563" 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/hmg/11.17.2015" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Watson1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Watson, M. L., Kingsmore, S. F., Johnston, G. I., Siegelman, M. H., Le Beau, M. M., Lemons, R. S., Bora, N. S., Howard, T. A., Weissman, I. L., McEver, R. P., Seldin, M. F.
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<strong>Genomic organization of the selectin family of leukocyte adhesion molecules on human and mouse chromosome 1.</strong>
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J. Exp. Med. 172: 263-272, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1694218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1694218</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1694218" 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/10.1084/jem.172.1.263" target="_blank">Full Text</a>]
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<a id="28" class="mim-anchor"></a>
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<a id="Zee2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zee, R. Y. L., Cook, N. R., Cheng, S., Reynolds, R., Erlich, H. A., Lindpaintner, K., Ridker, P. M.
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<strong>Polymorphism in the P-selectin and interleukin-4 genes as determinants of stroke: a population-based, prospective genetic analysis.</strong>
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Hum. Molec. Genet. 13: 389-396, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14681304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14681304</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14681304" 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/hmg/ddh039" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 07/31/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 12/1/2011<br>Patricia A. Hartz - updated : 11/16/2010<br>George E. Tiller - updated : 12/4/2006<br>Paul J. Converse - updated : 1/12/2006<br>Paul J. Converse - updated : 1/4/2006<br>Marla J. F. O'Neill - updated : 7/13/2005<br>Marla J. F. O'Neill - updated : 10/22/2004<br>Victor A. McKusick - updated : 10/13/2003<br>Victor A. McKusick - updated : 8/15/2003<br>George E. Tiller - updated : 7/10/2003<br>Ada Hamosh - updated : 5/9/2003<br>Carol A. Bocchini - updated : 5/24/2001<br>Victor A. McKusick - updated : 8/6/1998
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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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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Victor A. McKusick : 8/2/1989
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/31/2017
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 01/28/2014<br>alopez : 12/6/2011<br>terry : 12/1/2011<br>carol : 4/7/2011<br>mgross : 11/16/2010<br>mgross : 11/16/2010<br>carol : 10/8/2008<br>carol : 4/18/2008<br>wwang : 12/4/2006<br>terry : 12/4/2006<br>mgross : 1/12/2006<br>mgross : 1/4/2006<br>wwang : 7/19/2005<br>terry : 7/13/2005<br>tkritzer : 10/25/2004<br>terry : 10/22/2004<br>terry : 10/22/2004<br>mgross : 3/17/2004<br>terry : 11/11/2003<br>carol : 10/24/2003<br>tkritzer : 10/20/2003<br>terry : 10/13/2003<br>alopez : 8/19/2003<br>alopez : 8/19/2003<br>terry : 8/15/2003<br>cwells : 7/10/2003<br>ckniffin : 5/15/2003<br>alopez : 5/9/2003<br>terry : 5/9/2003<br>carol : 5/24/2001<br>carol : 8/7/1998<br>terry : 8/6/1998<br>jenny : 8/22/1997<br>alopez : 7/30/1997<br>jenny : 7/9/1997<br>mark : 6/3/1997<br>mark : 1/15/1997<br>terry : 1/15/1997<br>jenny : 12/20/1996<br>terry : 12/13/1996<br>terry : 10/27/1994<br>carol : 3/22/1993<br>carol : 2/25/1993<br>carol : 10/20/1992<br>supermim : 3/16/1992<br>carol : 3/2/1992
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 173610
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<div>
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<h3>
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<span class="mim-font">
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SELECTIN P; SELP
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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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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PLATELET ALPHA-GRANULE MEMBRANE PROTEIN<br />
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CD62<br />
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GRANULOCYTE MEMBRANE PROTEIN; GRMP<br />
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GMP140<br />
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P-SELECTIN
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</span>
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</h4>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SELP</em></strong>
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</span>
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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: 1q24.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:169,588,849-169,630,124 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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<p>The gene encoding GMP-140 was cloned by Johnston et al. (1988, 1989). </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</h4>
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<p>P-selectin, also called GMP-140, CD62, or selectin P, is a 140-kD adhesion molecule, expressed at the surface of activated cells, that mediates the interaction of activated endothelial cells or platelets with leukocytes. McEver et al. (1989) used an immunoperoxidase procedure to examine the distribution of GMP-140 in human tissues. The protein was detected in megakaryocytes and platelets, as well as in vascular endothelial cells, but was not found in a variety of other cell types examined. In endothelial cells, the protein was localized to the membranes of Weibel-Palade bodies, the intracellular storage granules for von Willebrand factor. </p><p>CD24 is a ligand for P-selectin; see 600074.</p><p>Florian et al. (2001) demonstrated that sorting nexin-17 (SNX17; 605963) interacts with the cytosolic domain of P-selectin and suggested that SNX17 may function in the intracellular trafficking of P-selectin. </p><p>Lages et al. (1991) found reduced content and surface expression of the GMP-140 protein in 1 form of platelet alpha/delta storage pool deficiency (see 185050). </p><p>In a 29-year-old patient with a lifelong bleeding disorder characterized by highly increased bleeding time, menorrhagias, long-lasting bleeding after cuts and tooth extractions, and large posttraumatic hematomas, Mazurov et al. (1996) made a diagnosis of gray platelet syndrome (139090). Furthermore, they showed by quantitative immunoblotting that the patient's platelets contained only about 15% of the control values of P-selectin. The content of plasma membrane glycoproteins IIb/IIIa (607759/173470) and Ib (231200) was not reduced, suggesting a specific deficiency of alpha-granule membrane protein. Lages et al. (1991) likewise found a combined deficiency of alpha-granules and P-selectin in the gray platelet syndrome. </p><p>Koyama et al. (2003) determined P-selectin expression in 517 unrelated Japanese patients, including 187 with type II diabetes (125853), 184 with hypertension, and 366 with hyperlipidemia. P-selectin expression was found to be significantly and positively correlated with carotid artery stiffness and wall thickness, and the percentage of P-selectin-positive platelets was significantly higher in patients with carotid plaque (p less than 0.0001). The percentage of P-selectin-positive platelets was independently associated with both carotid wall thickness and carotid plaque, by multiple and logistic regression analyses, respectively. In addition, the percentage of P-selectin-positive platelets was positively associated with age, body mass index, systolic and diastolic blood pressure, and glycosylated hemoglobin, and inversely associated with high density lipoprotein (HDL) cholesterol. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Family</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The lymph node homing receptor (LAM1; 153240), granule membrane protein-140 (GMP-140), and endothelial leukocyte adhesion molecule-1 (ELAM1; 131210) are thought to comprise an adhesion protein family, known as the selectins, that arose by multiple gene duplication events before divergence of mouse and human (Watson et al., 1990). The location of these genes on mouse and human chromosome 1, furthermore, is consistent with a close evolutionary relationship to the complement receptor-related genes, which also are positioned on the same chromosomes in both species and with which these genes share a region of sequence homology. Watson et al. (1990) observed that this region of 1q appears to be critical for intercellular communication within the immune system. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Johnston et al. (1990) found that the GMP140 gene spans over 50 kb and contains 17 exons. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By gene linkage analysis in the mouse, Watson et al. (1990) showed that the LAM1, GMP140, and ELAM1 genes, as well as the gene encoding coagulation factor V (612309), mapped to a region of distal mouse chromosome 1 that is syntenic with human chromosome 1; no crossovers were identified among these 4 genes in 428 meiotic events. Long-range restriction site mapping demonstrated that these genes map to within 300 kb in both the human and mouse genomes. By in situ hybridization, Watson et al. (1990) mapped the human GMP140 gene to 1q21-q24. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Bonds between adhesion molecules are often mechanically stressed. It has been suggested that force could either shorten bond lifetimes, because work done by the force could lower the energy barrier between the bound and free states ('slip'), or prolong bond lifetimes by deforming the molecules such that they lock more tightly ('catch'). Using atomic force microscopy and flow-chamber experiments, Marshall et al. (2003) showed that increasing force first prolonged and then shortened the lifetime of P-selectin complexes with P-selectin glycoprotein ligand-1 (600738), revealing both catch and slip bond behavior. Transitions between catch and slip bonds might explain why leukocyte rolling on selectins first increases and then decreases as wall shear stress increases. Marshall et al. (2003) concluded that this dual response to force provides a mechanism for regulating cell adhesion under conditions of variable mechanical stress. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Bevilacqua et al. (1991) recommended that the homologous proteins involved in cell-cell adhesion events should be named selectins to reflect the involvement of carbohydrate recognition in their functions. Individual members of the family would be designated by a prefix capital letter, as is done for the cadherins (e.g., 114020). Letters would be chosen based on the tissue of original discovery and would not imply cell-type specificity. Accordingly, CD62 was named P-selectin. See review of selectins by Bevilacqua and Nelson (1993). </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>P-selectin expression is increased in atherosclerotic plaques, and high plasma levels of this molecule are found in patients with unstable angina. Herrmann et al. (1998) investigated the P-selectin gene as a possible candidate for myocardial infarction. They screened the sequences of the 5-prime flanking region and exons of 40 alleles from patients with myocardial infarction for polymorphisms, using PCR/SSCP and sequencing. Thirteen polymorphisms were identified: 5 were in the 5-prime flanking sequences and 8 were in the exonic sequences. Four polymorphisms (S290N, N562D, L599V, and T715P) predicted a change in the amino acid sequence of the protein. Herrmann et al. (1998) investigated all P-selectin polymorphisms as well as a common E-selectin polymorphism, ser128 to arg, which had been reported as being associated with an increased risk of premature coronary heart disease and to be in tight linkage disequilibrium with several P-selectin polymorphisms, in 647 patients with myocardial infarction and 758 control subjects from 4 regions of France and Northern Ireland. (The P-selectin and E-selectin genes are tightly linked on 1q.) The entire set of P-selectin polymorphisms provided a heterozygosity of 91%. The polymorphisms were tightly associated with one another and displayed patterns of linkage disequilibrium suggesting the existence of highly conserved ancestral haplotypes. The 5 polymorphisms in the 5-prime flanking region of the gene were unrelated to MI or any relevant phenotype measured in the study, which went by the designation ECTIM (Etude Cas-Temoins de l'Infarctus du Myocarde). They inferred that the 4 missense variants identified in the coding region predicted 8 common forms of the P-selectin protein. The pro715 allele that characterized 1 of these forms was less frequent in France than in Northern Ireland (P less than 0.002) and in cases than in controls (P less than 0.002; P less than 0.02 after correction for the number of tests). Herrmann et al. (1998) concluded that the P-selectin gene is highly polymorphic and hypothesized that the pro715 variant may be protective for MI. </p><p>Tregouet et al. (2002) performed haplotype analysis in a sample of 582 cases and 630 controls from a French myocardial infarction study. Whereas haplotypes defined by the polymorphisms located in the promoter region of the gene were unrelated to MI, those defined by the polymorphisms in the coding region were globally associated with MI. Detailed haplotype analysis confirmed the protective effect of the P715 allele (173610.0001), and additionally revealed that the presence of 2 asparagine codons was associated with a higher risk of MI, but only when they were carried by the same haplotype. </p><p>To avoid problems related to unknown population substructure, association studies may be conducted in founder populations. However, in such populations, the relatedness among individuals may be considerable and may lead to seriously spurious associations. Bourgain et al. (2003) proposed a method for case-control association studies of binary traits that is suitable for any set of related individuals, provided that their genealogy is known. They used 2 methods to test for associations between 3 asthma-associated phenotypes and 48 SNPs in 35 candidate genes in the Hutterites. They reported a highly significant association (P = 0.000002) between atopy (see 147050) and a val640-to-leu polymorphism in the P-selectin gene (V640L; 176310.0002) detected with what they referred to as the quasi-likelihood score (QLS) test and also, but less significantly (P = 0.0014), with the transmission/disequilibrium test. </p><p>Zee et al. (2004) collected DNA samples at baseline in a prospective cohort of 14,916 initially healthy American men. The authors then genotyped 92 polymorphisms from 56 candidate genes among 319 individuals who subsequently developed ischemic stroke and among 2,092 individuals who remained free of reported cardiovascular disease over a mean follow-up period of 13.2 years. The V640L polymorphism in the SELP gene and a 582C-T transition in the IL4 gene (147780) were found to be independent predictors of thromboembolic stroke (odds ratio of 1.63, P = 0.001, and odds ratio of 1.40, P = 0.003, respectively). </p><p>P-selectin and intercellular adhesion molecule-1 (ICAM1; 147840) participate in inflammatory processes by promoting adhesion of leukocytes to vascular wall endothelium. Their soluble levels have been associated with adverse cardiovascular events. To identify loci affecting soluble levels of P-selectin (sP-selectin) and ICAM1 (sICAM1), Barbalic et al. (2010) performed a genomewide association study in a sample of 4,115 (sP-selectin) and 9,813 (sICAM1) individuals of European ancestry. The most significant SNP association for sP-selectin was within SELP (rs6136) and for sICAM1 levels within ICAM1 (rs3093030). Both sP-selection and sICAM1 were associated with ABO (110300) gene variants (rs579459 and rs649129, respectively), and in both cases the observed associations could be accounted for by the A1 allele of the ABO blood group. The absence of an association between ABO blood group and platelet-bound P-selectin levels in an independent subsample (n = 1,088) suggested that the ABO blood group may influence cleavage of the P-selectin protein from the cell surface or clearance from the circulation, rather than its production and cellular presentation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mayadas et al. (1993) generated P-selectin-deficient mice by gene targeting in embryonic stem cells and found that they exhibited a number of defects in leukocyte behavior, including elevated numbers of circulating neutrophils, virtually total absence of leukocyte rolling in mesenteric venules, and delayed recruitment of neutrophils to the peritoneal cavity upon experimentally induced inflammation. </p><p>In a mouse model of glomerulonephritis, Rosenkranz et al. (1999) observed that P-selectin-null mice exhibited more severe glomerular damage with significantly increased proteinuria and mortality compared to wildtype mice. Chimeric mice with only platelet P-selectin had glomerular injury similar to null mice, whereas chimeras with only endothelial cell P-selectin had injury similar to wildtype mice. Levels of soluble P-selectin were inversely associated with severity of disease; P-selectin was not expressed in the endothelium of the glomerulus or interstitium. Rosenkranz et al. (1999) concluded that part of the protective effect in wildtype mice might be accounted for by soluble P-selectin shed by nonrenal epithelial cells. </p><p>Soluble P-selectin is increased in many diseases, including atherosclerosis, in which soluble P-selectin is derived mostly from endothelial cells (Burger and Wagner, 2003). High levels of soluble P-selectin are predictive of future cardiovascular events (Hillis et al., 2002; Ridker et al., 2001). Mice with high levels of soluble P-selectin have more microparticles in their plasma than do normal mice. Hrachovinova et al. (2003) showed that molecular chimeras of P-selectin and immunoglobulin (P-sel--Ig) induced formation of procoagulant microparticles in human blood through its receptor P-selectin glycoprotein ligand-1 (PSGL1; 600738), also known as selectin P ligand. Psgl1 -/- mice produced fewer microparticles after P-sel--Ig infusion and did not spontaneously increase their microparticle count in old age as do wildtype mice. Injected microparticles specifically bound to thrombi and thus could be involved in thrombin generation at sites of injury. Infusion of P-sel--Ig into hemophilia A mice produced a 20-fold increase over control immunoglobulin in microparticles containing tissue factor. This significantly improved the kinetics of fibrin formation in the hemophilia A mice and normalized their tail-bleeding time. It was suggested that P-sel--Ig treatment could become a new approach to sustained control of bleeding in hemophilia. The activity of P-selectin would bypass factors VIII (300841) or IX (300746) by producing tissue factor and escape the problem of development of antibodies to factor VIII that occurs in 20 to 50% of hemophilia A (306700) patients, making further treatment difficult. </p><p>P-selectin contributes to both bronchoconstriction and inflammation in mouse models of allergic airway reactivity (Lukacs et al., 2002). </p><p>Forlow et al. (2002) stated that mice lacking both Selp and Sele (131210) kept under specific pathogen-free barrier conditions have high circulating neutrophil counts and develop hypercellular cervical lymph nodes containing numerous plasma cells, severe ulcerative dermatitis, conjunctivitis, and lung pathology, eventually leading to premature death. They hypothesized that the pathology in Selp and Sele double-knockout mice might be due to dysfunctional lymphocyte activity and, to test this hypothesis, they crossed Selp and Sele double-knockout mice with mice deficient in Rag1 (179615), which lack mature T and B lymphocytes. The triple-knockout mice had high circulating neutrophil counts and plasma Gcsf (CSF3; 138970), but none developed the conjunctivitis or dermatitis observed in Selp and Sele double-knockout mice. Histopathologic analysis revealed fewer lung anomalies and smaller cervical lymph nodes, which contained few mononuclear cells and no plasma cells, in triple-knockout mice compared with Selp and Sele double-knockout mice. Forlow et al. (2002) concluded that the severe disease phenotype, but not the elevated neutrophil counts, in Selp and Sele double-knockout mice depends on lymphocyte function. </p><p>Using fluorescence intravital microscopy (IVM) with homing assays, Hidalgo et al. (2002) examined the repopulation of bone marrow of sublethally irradiated nonobese diabetic (NOD)/severe combined immunodeficiency (SCID) mice, which have multiple defects in innate and adaptive immunologic functions, with human CD34 (142230)-positive hematopoietic progenitor cells obtained either from cord blood or from adult bone marrow or peripheral blood. Human hematopoietic progenitor cells rolled and arrested in NOD/SCID bone marrow microvessels, and the rolling capacity of neonatal cord blood cells was much lower than that of adult cells. Rolling and retention were nearly abolished in NOD/SCID Selp -/- Sele -/- mice and in NOD/SCID Sele -/- mice. Flow cytometric and IVM analyses suggested that the neonatal defect resulted from expression of a nonfunctional form of SELPLG on cord blood CD34-positive cells that were unable to bind Selp. This subset of cells was enriched in CD34-positive/CD38 (107270)-low/negative progenitors. Hidalgo et al. (2002) proposed that manipulation of expression of selectins and their ligands may improve homing of cord blood CD34-positive cells to bone marrow. </p><p>Kisucka et al. (2009) examined mice in which the endogenous P-selectin gene had been replaced with a mutant that produced abnormally high plasma levels of soluble P-selectin. Mutant mice presented several abnormalities, including higher blood-brain barrier permeability, with 25% of animals showing differential permeability between right and left hemispheres; altered social behavior with increased aggression; larger infarcts in the middle cerebral artery occlusion ischemic stroke model; and increased susceptibility to development of atherosclerotic, macrophage-rich lesions when coupled with apoE (107741) knockout. Kisucka et al. (2009) concluded that elevated soluble P-selectin contributes directly to atherosclerosis and cerebrovascular disease. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SELECTIN P POLYMORPHISM</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SELP, THR715PRO
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<br />
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SNP: rs6136,
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gnomAD: rs6136,
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ClinVar: RCV000014482, RCV003964801, RCV004713170
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Herrmann et al. (1998) identified a thr715-to-pro polymorphism of the SELP gene and found negative association suggesting that the pro715 variant may be protective for myocardial infarction. The study was performed in Belfast, Northern Ireland, and in 4 regions of France. The association was not significantly heterogeneous between the 2 countries. In Belfast, the pro715 allele had a frequency of 0.174 and 0.098 in controls and cases, respectively; in France, the pro715 allele had a frequency of 0.107 and 0.085 in controls and cases, respectively. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SELECTIN P POLYMORPHISM</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SELP, VAL640LEU
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<br />
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SNP: rs6133,
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gnomAD: rs6133,
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ClinVar: RCV000014483
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>This variant, formerly titled ATOPY, SUSCEPTIBILITY TO, has been reclassified as a polymorphism based on its frequency in the ExAC database (Hamosh, 2017).</p><p>Bourgain et al. (2003) found a highly significant association between a val640-to-leu (V640L) polymorphism in the SELP gene and atopy (see 147050). Although associations between polymorphisms in SELP and asthma-related phenotypes had not previously been reported, P-selectin was considered an outstanding functional candidate. Bourgain et al. (2003) concluded that the common val630 allele is a risk allele for atopy. </p><p>Hamosh (2017) noted that the V604L variant was found in 15,436 of 121,310 alleles and in 2,223 homozygotes (allele frequency of 0.1272) in the ExAC database (July 31, 2017).</p>
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</span>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Barbalic, M., Dupuis, J., Dehghan, A., Bis, J. C., Hoogeveen, R. C., Schnabel, R. B., Nambi, V., Bretler, M., Smith, N. L., Peters, A., Lu, C., Tracy, R. P., and 20 others.
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<strong>Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.</strong>
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Hum. Molec. Genet. 19: 1863-1872, 2010.
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[PubMed: 20167578]
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[Full Text: https://doi.org/10.1093/hmg/ddq061]
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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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Bevilacqua, M., Butcher, E., Furie, B., Furie, B., Gallatin, M., Gimbrone, M., Harlan, J., Kishimoto, K., Lasky, L., McEver, R., Paulson, J., Rosen, S., Seed, B., Siegelman, M., Springer, T., Stoolman, L., Tedder, T., Varki, A., Wagner, D., Weissman, I., Zimmerman, G.
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<strong>Selectins: a family of adhesion receptors. (Letter)</strong>
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Cell 67: 233 only, 1991.
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[PubMed: 1717161]
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[Full Text: https://doi.org/10.1016/0092-8674(91)90174-w]
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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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Bevilacqua, M. P., Nelson, R. M.
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<strong>Selectins.</strong>
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J. Clin. Invest. 91: 379-387, 1993.
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[PubMed: 7679406]
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[Full Text: https://doi.org/10.1172/JCI116210]
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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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Bourgain, C., Hoffjan, S., Nicolae, R., Newman, D., Steiner, L., Walker, K., Reynolds, R., Ober, C., McPeek, M. S.
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Ada Hamosh - updated : 07/31/2017<br>George E. Tiller - updated : 12/1/2011<br>Patricia A. Hartz - updated : 11/16/2010<br>George E. Tiller - updated : 12/4/2006<br>Paul J. Converse - updated : 1/12/2006<br>Paul J. Converse - updated : 1/4/2006<br>Marla J. F. O'Neill - updated : 7/13/2005<br>Marla J. F. O'Neill - updated : 10/22/2004<br>Victor A. McKusick - updated : 10/13/2003<br>Victor A. McKusick - updated : 8/15/2003<br>George E. Tiller - updated : 7/10/2003<br>Ada Hamosh - updated : 5/9/2003<br>Carol A. Bocchini - updated : 5/24/2001<br>Victor A. McKusick - updated : 8/6/1998
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