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Entry
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- *608166 - SEMAPHORIN 3E; SEMA3E
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- OMIM
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<p>
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<span class="h4">*608166</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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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="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608166">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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<a href="#contributors"><strong>Contributors</strong></a>
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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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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div 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=ENSG00000170381;t=ENST00000643230" 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=9723" 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=608166" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</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=ENSG00000170381;t=ENST00000643230" 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_001178129,NM_012431" 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_012431" 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=608166" 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=11545&isoform_id=11545_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/SEMA3E" 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/3818411,6912650,8134690,41472928,41472949,51094941,62820031,119597389,156230170,194384160,194386258,219518233,223461601,296011008,929653877" 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/O15041" 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=9723" 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=ENSG00000170381;t=ENST00000643230" 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=SEMA3E" 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=SEMA3E" 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+9723" 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/SEMA3E" 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:9723" 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/9723" 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=chr7&hgg_gene=ENST00000643230.2&hgg_start=83363238&hgg_end=83649139&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608166[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-heading mim-panel-heading" role="tab" id="mimVariation">
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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=608166[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000170381" 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=SEMA3E" 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=SEMA3E" 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=SEMA3E" 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=SEMA3E&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/PA35649" 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 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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</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:10727" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0011260.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1340034" 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/SEMA3E#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:1340034" 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/9723/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=9723" 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=WBGene00004889;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-030131-7864" 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 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:9723" 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=SEMA3E&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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<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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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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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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608166
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</span>
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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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SEMAPHORIN 3E; SEMA3E
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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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<div>
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<h4>
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<span class="mim-font">
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SEMAPHORIN H, MOUSE, HOMOLOG OF; SEMAH<br />
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KIAA0331
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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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<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=SEMA3E" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SEMA3E</a></em></strong>
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</span>
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</p>
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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/7/379?start=-3&limit=10&highlight=379">7q21.11</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:83363238-83649139&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'})">7:83,363,238-83,649,139</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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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>SEMA3E is a secreted class 3 semaphorin that triggers repulsion of endothelial cells in specific vascular beds and modulates axonal growth and synaptic connectivity for the correct wiring of the central nervous system. SEMA3E is a neurotrophic factor that is essential for development of hypothalamic neurons that produce gonadotropin-releasing hormone (GNRH; <a href="/entry/152760">152760</a>) (<a href="#1" class="mim-tip-reference" title="Cariboni, A., Andre, V., Chauvet, S., Cassatella, D., Davidson, K., Caramello, A., Fantin, A., Bouloux, P., Mann, F., Ruhrberg, C. <strong>Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.</strong> J. Clin. Invest. 125: 2413-2428, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25985275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25985275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25985275[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/JCI78448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25985275">Cariboni et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25985275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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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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</h4>
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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>By sequencing clones obtained from a size-fractionated brain cDNA library, <a href="#7" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 4: 141-150, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205841</a>] [<a href="https://doi.org/10.1093/dnares/4.2.141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9205841">Nagase et al. (1997)</a> cloned SEMA3E, which they designated KIAA0331. The 3-prime untranslated region of the transcript contains an Alu repetitive element. The deduced 775-amino acid protein has a calculated molecular mass of about 95 kD. SEMA3E shares 87.4% identity with mouse Sema3e. RT-PCR detected highest expression in brain and prostate, followed by small intestine, thymus, and lung. Little to no expression was detected in other tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205841" 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>By differential display of metastatic and nonmetastatic mouse cell lines, <a href="#2" class="mim-tip-reference" title="Christensen, C. R. L., Klingelhofer, J., Tarabykina, S., Hulgaard, E. F., Kramerov, D., Lukanidin, E. <strong>Transcription of a novel mouse semaphorin gene, M-semaH, correlates with the metastatic ability of mouse tumor cell lines.</strong> Cancer Res. 58: 1238-1244, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9515811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9515811</a>]" pmid="9515811">Christensen et al. (1998)</a> cloned 2 splice variants of mouse Sema3e, which they called Semah. Both variants encode the same 775-amino acid protein, which contains an N-terminal signal sequence followed by a large semaphorin domain, a C2 immunoglobulin-like domain, and a positively charged C terminus. Semah also has 13 conserved cysteines and 3 potential N-glycosylation sites. Northern blot analysis detected transcripts of 7.0, 4.5, and 4.0 kb expressed at highest levels in adult mouse brain and lung; RT-PCR determined that the 5-prime ends of the 4.5- and 4.0-kb transcripts were identical. All 3 transcripts were detected in whole mouse embryos and in 12 of 12 metastatic cell lines, but they were detected in only 2 of 6 nonmetastatic cells. Expression was not detected in immortalized mouse fibroblasts. In situ hybridization of embryonic mice detected expression in developing lungs and skeletal elements and in the ventral horns of the developing neural tube. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9515811" 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 radiation hybrid analysis, <a href="#7" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 4: 141-150, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205841</a>] [<a href="https://doi.org/10.1093/dnares/4.2.141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9205841">Nagase et al. (1997)</a> mapped the SEMA3E gene to chromosome 7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Lalani, S. R., Safiullah, A. M., Molinari, L. M., Fernbach, S. D., Martin, D. M., Belmont, J. W. <strong>SEMA3E mutation in a patient with CHARGE syndrome.</strong> J. Med. Genet. 41: e94, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235037</a>] [<a href="https://doi.org/10.1136/jmg.2003.017640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235037">Lalani et al. (2004)</a> mapped the SEMA3E gene to chromosome 7q21.11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15235037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Gu, C., Yoshida, Y., Livet, J., Reimert, D. V., Mann, F., Merte, J., Henderson, C. E., Jessell, T. M., Kolodkin, A. L., Ginty, D. D. <strong>Semaphorin 3E and plexin-D1 control vascular pattern independently of neuropilins.</strong> Science 307: 265-268, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15550623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15550623</a>] [<a href="https://doi.org/10.1126/science.1105416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15550623">Gu et al. (2005)</a> found that signaling by semaphorin-3E and its receptor plexin-D1 (<a href="/entry/604282">604282</a>) controls endothelial cell positioning and the patterning of developing vasculature in the mouse. Sema3e is highly expressed in developing somites, where it acts as a repulsive cue for plexin-D1-expressing endothelial cells of adjacent intersomitic vessels. Sema3e-plexin-D1 signaling did not require neuropilins (see <a href="/entry/602069">602069</a>), which had been presumed to be obligate Sema3 coreceptors. Moreover, genetic ablation of Sema3e or plexin-D1 but not neuropilin-mediated Sema3 signaling disrupted vascular patterning. <a href="#3" class="mim-tip-reference" title="Gu, C., Yoshida, Y., Livet, J., Reimert, D. V., Mann, F., Merte, J., Henderson, C. E., Jessell, T. M., Kolodkin, A. L., Ginty, D. D. <strong>Semaphorin 3E and plexin-D1 control vascular pattern independently of neuropilins.</strong> Science 307: 265-268, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15550623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15550623</a>] [<a href="https://doi.org/10.1126/science.1105416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15550623">Gu et al. (2005)</a> concluded that their results reveal an unexpected semaphorin signaling pathway and define a mechanism for controlling vascular patterning. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15550623" 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="#9" class="mim-tip-reference" title="Pecho-Vrieseling, E., Sigrist, M., Yoshida, Y., Jessell, T. M., Arber, S. <strong>Specificity of sensory-motor connections encoded by Sema3e-Plxnd1 recognition.</strong> Nature 459: 842-846, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19421194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19421194</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19421194[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19421194">Pecho-Vrieseling et al. (2009)</a> showed that a recognition system of a specific sensory motor connection involving expression of the class 3 semaphorin Sema3e by selected motor neuron pools, and its high-affinity receptor plexin D1 (PLXND1; <a href="/entry/604282">604282</a>) by proprioceptive sensory neurons, is a critical determinant of synaptic specificity in sensory motor circuits in mice. Changing the profile of Sema3e-Plxnd1 signaling in sensory or motor neurons results in functional and anatomic rewiring of monosynaptic connections, but does not alter motor pool specificity. <a href="#9" class="mim-tip-reference" title="Pecho-Vrieseling, E., Sigrist, M., Yoshida, Y., Jessell, T. M., Arber, S. <strong>Specificity of sensory-motor connections encoded by Sema3e-Plxnd1 recognition.</strong> Nature 459: 842-846, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19421194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19421194</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19421194[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19421194">Pecho-Vrieseling et al. (2009)</a> concluded that patterns of monosynaptic connectivity in this prototypic central nervous system circuit are constructed through a recognition program based on repellent signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19421194" 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 GN11 and GT1-7 cells as established models of immature migrating and maturing hypothalamic GnRH neurons, respectively, <a href="#1" class="mim-tip-reference" title="Cariboni, A., Andre, V., Chauvet, S., Cassatella, D., Davidson, K., Caramello, A., Fantin, A., Bouloux, P., Mann, F., Ruhrberg, C. <strong>Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.</strong> J. Clin. Invest. 125: 2413-2428, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25985275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25985275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25985275[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/JCI78448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25985275">Cariboni et al. (2015)</a> observed that SEMA3E did not affect guidance or survival in GN11 neurons, but in GT1-7 cells, serum starvation-induced death was dramatically reduced by SEMA3E, suggesting a survival function for SEMA3E in hypothalamic GnRH neurons. Blocking the SEMA3E receptor PLXND1 abolished the protective effect of SEMA3E on GT1-7 cells but did not affect GN11 cells, supporting the notion that SEMA3E protects the survival of maturing hypothalamic, but not immature, GnRH neurons in a PLXND1-dependent fashion. Treatment with the PI3K (see <a href="/entry/171834">171834</a>) inhibitor LY294 prevented the SEMA3E-mediated protection of GT1-7 cells, as did treatment with a function-blocking antibody for the PLXND1 coreceptor KDR (<a href="/entry/191306">191306</a>). <a href="#1" class="mim-tip-reference" title="Cariboni, A., Andre, V., Chauvet, S., Cassatella, D., Davidson, K., Caramello, A., Fantin, A., Bouloux, P., Mann, F., Ruhrberg, C. <strong>Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.</strong> J. Clin. Invest. 125: 2413-2428, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25985275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25985275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25985275[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/JCI78448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25985275">Cariboni et al. (2015)</a> suggested that SEMA3E signals through PLXND1 in a KDR-dependent fashion to promote PI3 kinase activation in maturing GnRH neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25985275" 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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The S703L variant (<a href="#0001">608166.0001</a>) reported by <a href="#5" class="mim-tip-reference" title="Lalani, S. R., Safiullah, A. M., Molinari, L. M., Fernbach, S. D., Martin, D. M., Belmont, J. W. <strong>SEMA3E mutation in a patient with CHARGE syndrome.</strong> J. Med. Genet. 41: e94, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235037</a>] [<a href="https://doi.org/10.1136/jmg.2003.017640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235037">Lalani et al. (2004)</a> has been reclassified as a variant of unknown significance. In a patient originally described by <a href="#6" class="mim-tip-reference" title="Martin, D. M., Sheldon, S., Gorski, J. L. <strong>CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).</strong> Am. J. Med. Genet. 99: 115-119, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11241468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11241468</a>] [<a href="https://doi.org/10.1002/1096-8628(2000)9999:999<00::aid-ajmg1126>3.0.co;2-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11241468">Martin et al. (2001)</a> with CHARGE syndrome (<a href="/entry/214800">214800</a>) and a de novo balanced translocation involving chromosomes 2 and 7, <a href="#5" class="mim-tip-reference" title="Lalani, S. R., Safiullah, A. M., Molinari, L. M., Fernbach, S. D., Martin, D. M., Belmont, J. W. <strong>SEMA3E mutation in a patient with CHARGE syndrome.</strong> J. Med. Genet. 41: e94, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235037</a>] [<a href="https://doi.org/10.1136/jmg.2003.017640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235037">Lalani et al. (2004)</a> mapped the translocation breakpoints and identified the SEMA3E gene within 200 kb of the breakpoint on 7q21.11. Screening of patients with CHARGE syndrome for mutations in the SEMA3E gene revealed a de novo mutation in an unrelated patient (S703L; <a href="#0001">608166.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11241468+15235037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between mutation in the SEMA3E gene and hypogonadotropic hypogonadism with anosmia (see <a href="/entry/147950">147950</a>), see <a href="#0002">608166.0002</a>.</p><p>For discussion of a possible association between mutation in the SEMA3E gene and an intellectual developmental disorder with cognitive regression, see <a href="#0003">608166.0003</a>.</p>
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<p>In Sema3e-null mice, <a href="#1" class="mim-tip-reference" title="Cariboni, A., Andre, V., Chauvet, S., Cassatella, D., Davidson, K., Caramello, A., Fantin, A., Bouloux, P., Mann, F., Ruhrberg, C. <strong>Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.</strong> J. Clin. Invest. 125: 2413-2428, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25985275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25985275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25985275[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/JCI78448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25985275">Cariboni et al. (2015)</a> performed immunohistochemical staining of mouse heads at embryonic day 14.5 and observed a significant reduction in the numbers of GnRH (<a href="/entry/152760">152760</a>) neurons compared to wildtype littermates. In addition, residual neurons in the medial preoptic area appeared collapsed, and neuron loss was pronounced in the forebrain but not the nose. <a href="#1" class="mim-tip-reference" title="Cariboni, A., Andre, V., Chauvet, S., Cassatella, D., Davidson, K., Caramello, A., Fantin, A., Bouloux, P., Mann, F., Ruhrberg, C. <strong>Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.</strong> J. Clin. Invest. 125: 2413-2428, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25985275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25985275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25985275[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/JCI78448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25985275">Cariboni et al. (2015)</a> noted the similarity to the phenotype of mice lacking PLXND1 (<a href="/entry/604282">604282</a>) or KDR (<a href="/entry/191306">191306</a>), and suggested that SEMA3E serves as a ligand for a PLXND1/KDR coreceptor complex to promote the survival of GnRH neurons in the developing brain. In addition, the authors observed a markedly reduced number of GnRH-positive neurites at the median eminence in adult Sema3e-null mice compared to wildtype males, and the testes of adult male mice lacking Sema3e were smaller than those of wildtype littermates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25985275" 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>3 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608166[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918341 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918341;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/rs121918341?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=rs121918341" 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=rs121918341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002611 OR RCV002247242 OR RCV004584592" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002611, RCV002247242, RCV004584592" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002611...</a>
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<p>This variant, formerly titled CHARGE SYNDROME, has been reclassified as a variant of unknown significance based on the findings of <a href="#10" class="mim-tip-reference" title="Suspitsin, E. N., Guseva, M. N., Kostik, M. M., Sokolenko, A. P., Skripchenko, N. V., Levina, A. S., Goleva, O. V., Dubko, M. F., Tumakova, A. V., Makhova, M. A., Lyazina, L. V., Bizin, I. V., Sokolova, N. E., Gabrusskaya, T. V., Ditkovskaya, L. V., Kozlova, O. P., Vahliarskaya, S. S., Kondratenko, I. V., Imyanitov, E. N. <strong>Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.</strong> Clin. Genet. 98: 231-239, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32441320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32441320</a>] [<a href="https://doi.org/10.1111/cge.13789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32441320">Suspitsin et al. (2020)</a> and a review of the gnomAD database by <a href="#4" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 10/14/2022."None>Hamosh (2022)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32441320" 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 patient with CHARGE syndrome (<a href="/entry/214800">214800</a>), <a href="#5" class="mim-tip-reference" title="Lalani, S. R., Safiullah, A. M., Molinari, L. M., Fernbach, S. D., Martin, D. M., Belmont, J. W. <strong>SEMA3E mutation in a patient with CHARGE syndrome.</strong> J. Med. Genet. 41: e94, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235037</a>] [<a href="https://doi.org/10.1136/jmg.2003.017640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15235037">Lalani et al. (2004)</a> identified a 2108C-T transition in the SEMA3E gene resulting in a ser703-to-leu (S703L) substitution. The mutation was not found in either parent or in 338 ethnically matched control chromosomes. The authors noted that ser703 is conserved in human, mouse, and rat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15235037" 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="#10" class="mim-tip-reference" title="Suspitsin, E. N., Guseva, M. N., Kostik, M. M., Sokolenko, A. P., Skripchenko, N. V., Levina, A. S., Goleva, O. V., Dubko, M. F., Tumakova, A. V., Makhova, M. A., Lyazina, L. V., Bizin, I. V., Sokolova, N. E., Gabrusskaya, T. V., Ditkovskaya, L. V., Kozlova, O. P., Vahliarskaya, S. S., Kondratenko, I. V., Imyanitov, E. N. <strong>Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.</strong> Clin. Genet. 98: 231-239, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32441320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32441320</a>] [<a href="https://doi.org/10.1111/cge.13789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32441320">Suspitsin et al. (2020)</a> sequenced 344 immunity-related genes in 333 patients with inborn errors of immunity. They identified identical twins with a de novo occurrence of the c.2108C-T S703L variant. While the twins had destructive pneumonia, atopic dermatitis, recurrent respiratory infections, oral candidiasis, and molluscum contagiosum, all consistent with an inborn error of immunity, they had no features of CHARGE syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32441320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 10/14/2022."None>Hamosh (2022)</a> found the S703L variant in 7 of 282,814 alleles in the gnomAD database, in heterozygosity only. This frequency suggests that the S703L variant is not pathogenic for CHARGE syndrome, which manifests in the neonatal period with multiple congenital anomalies.</p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs143631464 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs143631464;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/rs143631464?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=rs143631464" 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=rs143631464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000207418 OR RCV000231032 OR RCV003430768" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000207418, RCV000231032, RCV003430768" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000207418...</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to hypogonadotropic hypogonadism with anosmia (Kallmann syndrome; see <a href="/entry/147950">147950</a>) has not been confirmed.</p><p><a href="#1" class="mim-tip-reference" title="Cariboni, A., Andre, V., Chauvet, S., Cassatella, D., Davidson, K., Caramello, A., Fantin, A., Bouloux, P., Mann, F., Ruhrberg, C. <strong>Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.</strong> J. Clin. Invest. 125: 2413-2428, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25985275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25985275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25985275[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/JCI78448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25985275">Cariboni et al. (2015)</a> performed exome sequencing in 121 patients with Kallmann syndrome and identified 2 affected brothers with heterozygosity for a c.1855C-T transition (c.1855C-T, ENST00000307792.3) in exon 16 of the SEMA3E gene, resulting in an arg619-to-cys (R619C) substitution at a residue that is highly conserved in mammals. Analysis of their exome data for mutation in known Kallmann syndrome-associated genes revealed that both brothers were also heterozygous for an F1019C substitution in the hypogonadotropic hypogonadism-5 (HH5; <a href="/entry/612370">612370</a>)-associated CHD7 gene (<a href="/entry/608892">608892</a>). Parental DNA was unavailable for study. The brothers were diagnosed at ages 15 and 17 years, respectively, with anosmia, prepubertal testes, and GnRH deficiency in the setting of hypogonadal testosterone levels. The SEMA3E mutation was not found in the 1000 Genomes Project database, and occurred at a very low minor allele frequency (0.0004%) in the NHLBI GO Exome Sequencing Project database in European ancestry samples, whereas the CHD7 mutation was not found in either database. Ligand-binding assays demonstrated that both wildtype SEMA3E and the R619C mutant bound GT1-7 cells (maturing hypothalamic GnRH neurons, see <a href="/entry/152760">152760</a>), although the mutant failed to protect the cells from serum starvation-induced death. In addition, the mutant was ineffective in AKT (<a href="/entry/164730">164730</a>) activation in serum-starved GT1-7 cells. <a href="#1" class="mim-tip-reference" title="Cariboni, A., Andre, V., Chauvet, S., Cassatella, D., Davidson, K., Caramello, A., Fantin, A., Bouloux, P., Mann, F., Ruhrberg, C. <strong>Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.</strong> J. Clin. Invest. 125: 2413-2428, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25985275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25985275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25985275[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/JCI78448" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25985275">Cariboni et al. (2015)</a> suggested that SEMA3E-mediated survival signaling in maturing GnRH neurons is compromised by the R619C mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25985275" 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=RCV001824193 OR RCV003152637" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001824193, RCV003152637" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001824193...</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to an intellectual developmental disorder with cognitive regression has not been confirmed.</p><p>In a patient with severely impaired intellectual development and cognitive regression, <a href="#8" class="mim-tip-reference" title="Paganoni, A. J. J., Amoruso, F., Porta Pelayo, J., Calleja-Perez, B., Vezzoli, V., Duminuco, P., Caramello, A., Oleari, R., Fernandez-Jaen, A., Cariboni, A. <strong>A novel loss-of-function SEMA3E mutation in a patient with severe intellectual disability and cognitive regression.</strong> Int. J. Molec. Sci. 23: 5632, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35628442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35628442</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35628442[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/10.3390/ijms23105632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35628442">Paganoni et al. (2022)</a> identified a de novo heterozygous 1-bp deletion (c.621delG, NM_012431.3) in exon 6 of the SEMA3E gene, resulting in a frameshift and premature stop codon 15 amino acids downstream of the deletion (Arg208AspfsTer15). The variant was not found in the 1000 Genomes project, ExAC, and gnomAD (April 2022) databases. The affected residue is partially conserved across species. In vitro and ex vivo experiments showed that the variant impairs protein secretion and hampers binding to embryonic mouse neuronal cells and tissues. The authors noted that SEMA3E is expressed during human brain development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35628442" 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>Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.</strong>
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J. Clin. Invest. 125: 2413-2428, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25985275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25985275</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25985275[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=25985275" 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/JCI78448" target="_blank">Full Text</a>]
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<a id="Christensen1998" class="mim-anchor"></a>
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<div class="">
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Christensen, C. R. L., Klingelhofer, J., Tarabykina, S., Hulgaard, E. F., Kramerov, D., Lukanidin, E.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9515811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9515811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9515811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Semaphorin 3E and plexin-D1 control vascular pattern independently of neuropilins.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15550623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15550623</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15550623" 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/10.1126/science.1105416" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Hamosh2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hamosh, A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/14/2022.
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Lalani, S. R., Safiullah, A. M., Molinari, L. M., Fernbach, S. D., Martin, D. M., Belmont, J. W.
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<strong>SEMA3E mutation in a patient with CHARGE syndrome.</strong>
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J. Med. Genet. 41: e94, 2004. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15235037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15235037</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15235037" 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/10.1136/jmg.2003.017640" target="_blank">Full Text</a>]
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<a id="Martin2001" class="mim-anchor"></a>
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<div class="">
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Martin, D. M., Sheldon, S., Gorski, J. L.
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<strong>CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).</strong>
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Am. J. Med. Genet. 99: 115-119, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11241468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11241468</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11241468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1096-8628(2000)9999:999<00::aid-ajmg1126>3.0.co;2-8" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Nagase1997" class="mim-anchor"></a>
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Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 4: 141-150, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205841" 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/dnares/4.2.141" target="_blank">Full Text</a>]
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<a id="Paganoni2022" class="mim-anchor"></a>
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Paganoni, A. J. J., Amoruso, F., Porta Pelayo, J., Calleja-Perez, B., Vezzoli, V., Duminuco, P., Caramello, A., Oleari, R., Fernandez-Jaen, A., Cariboni, A.
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<strong>A novel loss-of-function SEMA3E mutation in a patient with severe intellectual disability and cognitive regression.</strong>
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Int. J. Molec. Sci. 23: 5632, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35628442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35628442</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35628442[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=35628442" 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/10.3390/ijms23105632" target="_blank">Full Text</a>]
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<a id="Pecho-Vrieseling2009" class="mim-anchor"></a>
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<div class="">
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Pecho-Vrieseling, E., Sigrist, M., Yoshida, Y., Jessell, T. M., Arber, S.
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<strong>Specificity of sensory-motor connections encoded by Sema3e-Plxnd1 recognition.</strong>
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Nature 459: 842-846, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19421194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19421194</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19421194[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=19421194" 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/nature08000" target="_blank">Full Text</a>]
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<a id="Suspitsin2020" class="mim-anchor"></a>
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Suspitsin, E. N., Guseva, M. N., Kostik, M. M., Sokolenko, A. P., Skripchenko, N. V., Levina, A. S., Goleva, O. V., Dubko, M. F., Tumakova, A. V., Makhova, M. A., Lyazina, L. V., Bizin, I. V., Sokolova, N. E., Gabrusskaya, T. V., Ditkovskaya, L. V., Kozlova, O. P., Vahliarskaya, S. S., Kondratenko, I. V., Imyanitov, E. N.
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<strong>Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.</strong>
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Clin. Genet. 98: 231-239, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32441320/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32441320</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32441320" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13789" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 01/18/2023
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 01/04/2023<br>Marla J. F. O'Neill - updated : 02/09/2016<br>Ada Hamosh - updated : 8/14/2009<br>Marla J. F. O'Neill - updated : 9/12/2005<br>Ada Hamosh - updated : 1/27/2005
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Creation Date:
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Patricia A. Hartz : 10/13/2003
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carol : 05/28/2024
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carol : 01/18/2023<br>alopez : 01/04/2023<br>alopez : 10/17/2022<br>alopez : 10/14/2022<br>carol : 02/09/2016<br>carol : 1/13/2016<br>terry : 12/8/2010<br>alopez : 8/18/2009<br>terry : 8/14/2009<br>carol : 10/11/2005<br>terry : 9/12/2005<br>wwang : 2/7/2005<br>wwang : 2/2/2005<br>terry : 1/27/2005<br>mgross : 10/13/2003
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<strong>*</strong> 608166
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<h3>
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SEMAPHORIN 3E; SEMA3E
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<em>Alternative titles; symbols</em>
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SEMAPHORIN H, MOUSE, HOMOLOG OF; SEMAH<br />
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KIAA0331
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SEMA3E</em></strong>
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Cytogenetic location: 7q21.11
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:83,363,238-83,649,139 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>SEMA3E is a secreted class 3 semaphorin that triggers repulsion of endothelial cells in specific vascular beds and modulates axonal growth and synaptic connectivity for the correct wiring of the central nervous system. SEMA3E is a neurotrophic factor that is essential for development of hypothalamic neurons that produce gonadotropin-releasing hormone (GNRH; 152760) (Cariboni et al., 2015). </p>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, Nagase et al. (1997) cloned SEMA3E, which they designated KIAA0331. The 3-prime untranslated region of the transcript contains an Alu repetitive element. The deduced 775-amino acid protein has a calculated molecular mass of about 95 kD. SEMA3E shares 87.4% identity with mouse Sema3e. RT-PCR detected highest expression in brain and prostate, followed by small intestine, thymus, and lung. Little to no expression was detected in other tissues examined. </p><p>By differential display of metastatic and nonmetastatic mouse cell lines, Christensen et al. (1998) cloned 2 splice variants of mouse Sema3e, which they called Semah. Both variants encode the same 775-amino acid protein, which contains an N-terminal signal sequence followed by a large semaphorin domain, a C2 immunoglobulin-like domain, and a positively charged C terminus. Semah also has 13 conserved cysteines and 3 potential N-glycosylation sites. Northern blot analysis detected transcripts of 7.0, 4.5, and 4.0 kb expressed at highest levels in adult mouse brain and lung; RT-PCR determined that the 5-prime ends of the 4.5- and 4.0-kb transcripts were identical. All 3 transcripts were detected in whole mouse embryos and in 12 of 12 metastatic cell lines, but they were detected in only 2 of 6 nonmetastatic cells. Expression was not detected in immortalized mouse fibroblasts. In situ hybridization of embryonic mice detected expression in developing lungs and skeletal elements and in the ventral horns of the developing neural tube. </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>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 radiation hybrid analysis, Nagase et al. (1997) mapped the SEMA3E gene to chromosome 7. </p><p>Lalani et al. (2004) mapped the SEMA3E gene to chromosome 7q21.11. </p>
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</span>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gu et al. (2005) found that signaling by semaphorin-3E and its receptor plexin-D1 (604282) controls endothelial cell positioning and the patterning of developing vasculature in the mouse. Sema3e is highly expressed in developing somites, where it acts as a repulsive cue for plexin-D1-expressing endothelial cells of adjacent intersomitic vessels. Sema3e-plexin-D1 signaling did not require neuropilins (see 602069), which had been presumed to be obligate Sema3 coreceptors. Moreover, genetic ablation of Sema3e or plexin-D1 but not neuropilin-mediated Sema3 signaling disrupted vascular patterning. Gu et al. (2005) concluded that their results reveal an unexpected semaphorin signaling pathway and define a mechanism for controlling vascular patterning. </p><p>Pecho-Vrieseling et al. (2009) showed that a recognition system of a specific sensory motor connection involving expression of the class 3 semaphorin Sema3e by selected motor neuron pools, and its high-affinity receptor plexin D1 (PLXND1; 604282) by proprioceptive sensory neurons, is a critical determinant of synaptic specificity in sensory motor circuits in mice. Changing the profile of Sema3e-Plxnd1 signaling in sensory or motor neurons results in functional and anatomic rewiring of monosynaptic connections, but does not alter motor pool specificity. Pecho-Vrieseling et al. (2009) concluded that patterns of monosynaptic connectivity in this prototypic central nervous system circuit are constructed through a recognition program based on repellent signaling. </p><p>Using GN11 and GT1-7 cells as established models of immature migrating and maturing hypothalamic GnRH neurons, respectively, Cariboni et al. (2015) observed that SEMA3E did not affect guidance or survival in GN11 neurons, but in GT1-7 cells, serum starvation-induced death was dramatically reduced by SEMA3E, suggesting a survival function for SEMA3E in hypothalamic GnRH neurons. Blocking the SEMA3E receptor PLXND1 abolished the protective effect of SEMA3E on GT1-7 cells but did not affect GN11 cells, supporting the notion that SEMA3E protects the survival of maturing hypothalamic, but not immature, GnRH neurons in a PLXND1-dependent fashion. Treatment with the PI3K (see 171834) inhibitor LY294 prevented the SEMA3E-mediated protection of GT1-7 cells, as did treatment with a function-blocking antibody for the PLXND1 coreceptor KDR (191306). Cariboni et al. (2015) suggested that SEMA3E signals through PLXND1 in a KDR-dependent fashion to promote PI3 kinase activation in maturing GnRH neurons. </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><strong><em>Reclassified Variants</em></strong></p><p>
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The S703L variant (608166.0001) reported by Lalani et al. (2004) has been reclassified as a variant of unknown significance. In a patient originally described by Martin et al. (2001) with CHARGE syndrome (214800) and a de novo balanced translocation involving chromosomes 2 and 7, Lalani et al. (2004) mapped the translocation breakpoints and identified the SEMA3E gene within 200 kb of the breakpoint on 7q21.11. Screening of patients with CHARGE syndrome for mutations in the SEMA3E gene revealed a de novo mutation in an unrelated patient (S703L; 608166.0001). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between mutation in the SEMA3E gene and hypogonadotropic hypogonadism with anosmia (see 147950), see 608166.0002.</p><p>For discussion of a possible association between mutation in the SEMA3E gene and an intellectual developmental disorder with cognitive regression, see 608166.0003.</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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<span class="mim-text-font">
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<p>In Sema3e-null mice, Cariboni et al. (2015) performed immunohistochemical staining of mouse heads at embryonic day 14.5 and observed a significant reduction in the numbers of GnRH (152760) neurons compared to wildtype littermates. In addition, residual neurons in the medial preoptic area appeared collapsed, and neuron loss was pronounced in the forebrain but not the nose. Cariboni et al. (2015) noted the similarity to the phenotype of mice lacking PLXND1 (604282) or KDR (191306), and suggested that SEMA3E serves as a ligand for a PLXND1/KDR coreceptor complex to promote the survival of GnRH neurons in the developing brain. In addition, the authors observed a markedly reduced number of GnRH-positive neurites at the median eminence in adult Sema3e-null mice compared to wildtype males, and the testes of adult male mice lacking Sema3e were smaller than those of wildtype littermates. </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>3 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</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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SEMA3E, SER703LEU
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<br />
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SNP: rs121918341,
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gnomAD: rs121918341,
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ClinVar: RCV000002611, RCV002247242, RCV004584592
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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 CHARGE SYNDROME, has been reclassified as a variant of unknown significance based on the findings of Suspitsin et al. (2020) and a review of the gnomAD database by Hamosh (2022). </p><p>In a patient with CHARGE syndrome (214800), Lalani et al. (2004) identified a 2108C-T transition in the SEMA3E gene resulting in a ser703-to-leu (S703L) substitution. The mutation was not found in either parent or in 338 ethnically matched control chromosomes. The authors noted that ser703 is conserved in human, mouse, and rat. </p><p>Suspitsin et al. (2020) sequenced 344 immunity-related genes in 333 patients with inborn errors of immunity. They identified identical twins with a de novo occurrence of the c.2108C-T S703L variant. While the twins had destructive pneumonia, atopic dermatitis, recurrent respiratory infections, oral candidiasis, and molluscum contagiosum, all consistent with an inborn error of immunity, they had no features of CHARGE syndrome. </p><p>Hamosh (2022) found the S703L variant in 7 of 282,814 alleles in the gnomAD database, in heterozygosity only. This frequency suggests that the S703L variant is not pathogenic for CHARGE syndrome, which manifests in the neonatal period with multiple congenital anomalies.</p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 VARIANT OF UNKNOWN SIGNIFICANCE</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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SEMA3E, ARG619CYS
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<br />
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SNP: rs143631464,
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gnomAD: rs143631464,
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ClinVar: RCV000207418, RCV000231032, RCV003430768
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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 is classified as a variant of unknown significance because its contribution to hypogonadotropic hypogonadism with anosmia (Kallmann syndrome; see 147950) has not been confirmed.</p><p>Cariboni et al. (2015) performed exome sequencing in 121 patients with Kallmann syndrome and identified 2 affected brothers with heterozygosity for a c.1855C-T transition (c.1855C-T, ENST00000307792.3) in exon 16 of the SEMA3E gene, resulting in an arg619-to-cys (R619C) substitution at a residue that is highly conserved in mammals. Analysis of their exome data for mutation in known Kallmann syndrome-associated genes revealed that both brothers were also heterozygous for an F1019C substitution in the hypogonadotropic hypogonadism-5 (HH5; 612370)-associated CHD7 gene (608892). Parental DNA was unavailable for study. The brothers were diagnosed at ages 15 and 17 years, respectively, with anosmia, prepubertal testes, and GnRH deficiency in the setting of hypogonadal testosterone levels. The SEMA3E mutation was not found in the 1000 Genomes Project database, and occurred at a very low minor allele frequency (0.0004%) in the NHLBI GO Exome Sequencing Project database in European ancestry samples, whereas the CHD7 mutation was not found in either database. Ligand-binding assays demonstrated that both wildtype SEMA3E and the R619C mutant bound GT1-7 cells (maturing hypothalamic GnRH neurons, see 152760), although the mutant failed to protect the cells from serum starvation-induced death. In addition, the mutant was ineffective in AKT (164730) activation in serum-starved GT1-7 cells. Cariboni et al. (2015) suggested that SEMA3E-mediated survival signaling in maturing GnRH neurons is compromised by the R619C mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</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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SEMA3E, 1-BP DEL, 621G
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<br />
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SNP: rs2115654665,
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|
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ClinVar: RCV001824193, RCV003152637
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>This variant is classified as a variant of unknown significance because its contribution to an intellectual developmental disorder with cognitive regression has not been confirmed.</p><p>In a patient with severely impaired intellectual development and cognitive regression, Paganoni et al. (2022) identified a de novo heterozygous 1-bp deletion (c.621delG, NM_012431.3) in exon 6 of the SEMA3E gene, resulting in a frameshift and premature stop codon 15 amino acids downstream of the deletion (Arg208AspfsTer15). The variant was not found in the 1000 Genomes project, ExAC, and gnomAD (April 2022) databases. The affected residue is partially conserved across species. In vitro and ex vivo experiments showed that the variant impairs protein secretion and hampers binding to embryonic mouse neuronal cells and tissues. The authors noted that SEMA3E is expressed during human brain development. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Cariboni, A., Andre, V., Chauvet, S., Cassatella, D., Davidson, K., Caramello, A., Fantin, A., Bouloux, P., Mann, F., Ruhrberg, C.
|
|
<strong>Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.</strong>
|
|
J. Clin. Invest. 125: 2413-2428, 2015.
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[PubMed: 25985275]
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[Full Text: https://doi.org/10.1172/JCI78448]
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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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Christensen, C. R. L., Klingelhofer, J., Tarabykina, S., Hulgaard, E. F., Kramerov, D., Lukanidin, E.
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<strong>Transcription of a novel mouse semaphorin gene, M-semaH, correlates with the metastatic ability of mouse tumor cell lines.</strong>
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Cancer Res. 58: 1238-1244, 1998.
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[PubMed: 9515811]
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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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Gu, C., Yoshida, Y., Livet, J., Reimert, D. V., Mann, F., Merte, J., Henderson, C. E., Jessell, T. M., Kolodkin, A. L., Ginty, D. D.
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<strong>Semaphorin 3E and plexin-D1 control vascular pattern independently of neuropilins.</strong>
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Science 307: 265-268, 2005.
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[PubMed: 15550623]
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[Full Text: https://doi.org/10.1126/science.1105416]
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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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Hamosh, A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 10/14/2022.
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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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Lalani, S. R., Safiullah, A. M., Molinari, L. M., Fernbach, S. D., Martin, D. M., Belmont, J. W.
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<strong>SEMA3E mutation in a patient with CHARGE syndrome.</strong>
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J. Med. Genet. 41: e94, 2004. Note: Electronic Article.
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[PubMed: 15235037]
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[Full Text: https://doi.org/10.1136/jmg.2003.017640]
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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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Martin, D. M., Sheldon, S., Gorski, J. L.
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<strong>CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).</strong>
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Am. J. Med. Genet. 99: 115-119, 2001.
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[PubMed: 11241468]
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[Full Text: https://doi.org/10.1002/1096-8628(2000)9999:999<00::aid-ajmg1126>3.0.co;2-8]
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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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Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 4: 141-150, 1997.
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[PubMed: 9205841]
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[Full Text: https://doi.org/10.1093/dnares/4.2.141]
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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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Paganoni, A. J. J., Amoruso, F., Porta Pelayo, J., Calleja-Perez, B., Vezzoli, V., Duminuco, P., Caramello, A., Oleari, R., Fernandez-Jaen, A., Cariboni, A.
|
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<strong>A novel loss-of-function SEMA3E mutation in a patient with severe intellectual disability and cognitive regression.</strong>
|
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Int. J. Molec. Sci. 23: 5632, 2022.
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[PubMed: 35628442]
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[Full Text: https://doi.org/10.3390/ijms23105632]
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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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Pecho-Vrieseling, E., Sigrist, M., Yoshida, Y., Jessell, T. M., Arber, S.
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<strong>Specificity of sensory-motor connections encoded by Sema3e-Plxnd1 recognition.</strong>
|
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Nature 459: 842-846, 2009.
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[PubMed: 19421194]
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[Full Text: https://doi.org/10.1038/nature08000]
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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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Suspitsin, E. N., Guseva, M. N., Kostik, M. M., Sokolenko, A. P., Skripchenko, N. V., Levina, A. S., Goleva, O. V., Dubko, M. F., Tumakova, A. V., Makhova, M. A., Lyazina, L. V., Bizin, I. V., Sokolova, N. E., Gabrusskaya, T. V., Ditkovskaya, L. V., Kozlova, O. P., Vahliarskaya, S. S., Kondratenko, I. V., Imyanitov, E. N.
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<strong>Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.</strong>
|
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Clin. Genet. 98: 231-239, 2020.
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[PubMed: 32441320]
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[Full Text: https://doi.org/10.1111/cge.13789]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 01/18/2023<br>Anne M. Stumpf - updated : 01/04/2023<br>Marla J. F. O'Neill - updated : 02/09/2016<br>Ada Hamosh - updated : 8/14/2009<br>Marla J. F. O'Neill - updated : 9/12/2005<br>Ada Hamosh - updated : 1/27/2005
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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