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Entry
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- *604457 - NUCLEAR BODY PROTEIN SP110; SP110
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*604457</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</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="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/604457">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div 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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<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 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 class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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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=ENSG00000135899;t=ENST00000258381" 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=3431" 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=604457" 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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<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=ENSG00000135899;t=ENST00000258381" 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_001185015,NM_001378442,NM_001378443,NM_001378444,NM_001378445,NM_001378446,NM_001378447,NM_004509,NM_004510,NM_080424,XM_011511090,XM_011511091,XM_011511092,XM_017003968,XM_017003969,XM_024452850,XM_047444120,XM_047444121" 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_080424" 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=604457" 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=06832&isoform_id=06832_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/SP110" 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/4239654,9800494,9964115,17512144,34189388,62702358,71081955,71081956,71081957,71081958,71081959,119591321,119591322,119591323,119591324,119591325,194375167,297139787,313104323,340541744,340541746,340541748,767917909,767917911,767917914,1034613579,1034613588,1370477523,1677530832,1677531534,1788616810,1808862629,1808862635,1808862647,1808862655,1808862668,1808862680,2051287965,2051287967,2051287969,2217327481,2217327484,2462572581,2462572583,2462572585,2462572587,2462572589,2462572591,2462572593,2462572595" 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/Q9HB58" 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=3431" 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=ENSG00000135899;t=ENST00000258381" 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=SP110" 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=SP110" 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+3431" 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/SP110" 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:3431" 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/3431" 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=chr2&hgg_gene=ENST00000258381.11&hgg_start=230165186&hgg_end=230225636&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>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:5401" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/sp110" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604457[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604457[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/ENSG00000135899" 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=SP110" 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=SP110" 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=SP110" 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="http://structure.bmc.lu.se/idbase/SP110base/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SP110&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/PA35104" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:5401" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/search?q=MGI:1923364 MGI:3783195 MGI:3783243" 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/SP110#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/batch/summary?idType=MGI&ids=MGI:1923364 MGI:3783195 MGI:3783243" 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/3431/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=3431" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-130530-997" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=SP110&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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</div>
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
604457
|
|
</span>
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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NUCLEAR BODY PROTEIN SP110; SP110
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
SPECKLED, 110-KD<br />
|
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INTRACELLULAR PATHOGEN RESISTANCE 1, MOUSE, HOMOLOG OF; IPR1
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="includedTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
INTERFERON-INDUCED PROTEIN 41, INCLUDED; IFI41, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
INTERFERON-INDUCED PROTEIN 75, INCLUDED; IFI75, INCLUDED
|
|
</span>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SP110" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SP110</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/2/1087?start=-3&limit=10&highlight=1087">2q37.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:230165186-230225636&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'})">2:230,165,186-230,225,636</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=607948,235550" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/1087?start=-3&limit=10&highlight=1087">
|
|
2q37.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Mycobacterium tuberculosis, susceptibility to}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/607948"> 607948 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
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|
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|
|
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</tr>
|
|
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Hepatic venoocclusive disease with immunodeficiency
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/235550"> 235550 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
|
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<p>Exposure to interferons (IFNs; see, for example, <a href="/entry/147570">147570</a>) leads to a modulation in the levels of many cellular proteins (see <a href="/entry/604456">604456</a>) that mediate the pleiotropic effects of IFNs. Using a rabbit polyclonal antibody against PKR p68 (PRKR; <a href="/entry/176871">176871</a>), <a href="#1" class="mim-tip-reference" title="Kadereit, S., Gewert, D. R., Galabru, J., Hovanessian, A. G., Meurs, E. F. <strong>Molecular cloning of two new interferon-induced, highly related nuclear phosphoproteins.</strong> J. Biol. Chem. 268: 24432-24441, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693701</a>]" pmid="7693701">Kadereit et al. (1993)</a> isolated from interferon-induced Daudi cells crossreacting but otherwise unrelated cDNAs encoding IFI41 and IFI75. IFI75 cDNA hybridized in Northern blots with 2-kb mRNA from IFN-induced cells. IFI41 cDNA hybridized in Northern blots with 2-kb mRNA from IFN-induced cells and with 0.5-kb mRNA from both induced and control cells. Sequence analysis revealed that IFI41 and IFI75 are very hydrophilic 248- and 371-amino acid polypeptides, respectively, are rich in basic residues, and have several potential phosphorylation sites. The 2 proteins contain an identical 204-amino acid stretch and have protamine- and histone-like nuclear targeting sequences. Expression in the rabbit reticulocyte lysate system directed the synthesis of a 52-kD IFI75 protein, higher than the calculated molecular mass of 42 kD. IFI75 expression in Sf9 cells in the baculovirus system resulted in a phosphorylated 65- to 67-kD protein that is associated with the nuclear pellet after NP40 detergent extraction. IFI41 had a molecular mass of 30 kD. In contrast to IFI75, IFI41 was toxic for Sf9 cells in the baculovirus system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7693701" 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="#7" class="mim-tip-reference" title="Welsh, G. I., Kadereit, S., Coccia, E. M., Hovanessian, A. G., Meurs, E. F. <strong>Colocalization within the nucleolus of two highly related IFN-induced human nuclear phosphoproteins with nucleolin.</strong> Exp. Cell Res. 250: 62-74, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10388521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10388521</a>] [<a href="https://doi.org/10.1006/excr.1999.4505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10388521">Welsh et al. (1999)</a> demonstrated that IFI41 is localized to the nucleolus in mammalian cells. IFI75 is localized primarily in the periphery of the nucleolus but is also found throughout the nucleoplasm in mammalian cells. Treatment with interferon resulted in a translocation of IFI41 to the periphery of the nucleolus. The authors suggested that IFI41 and IFI75, in association with nucleolin, with which they colocalize, play a role in ribosome biogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10388521" 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>SP110 is associated with the PML (see <a href="/entry/102578">102578</a>) nuclear body, a macromolecular complex within the nucleus that is deployed to areas of active host or viral DNA replication, transcription, and repair. In addition to the regulation of gene transcription, the PML nuclear body is involved in other cellular processes such as apoptosis, cell cycle control, and the immune response. The findings of <a href="#3" class="mim-tip-reference" title="Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F. <strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong> Nature Genet. 38: 620-622, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>] [<a href="https://doi.org/10.1038/ng1780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648851">Roscioli et al. (2006)</a> were consistent with an important role of SP110 in the immune response without being essential for PML nuclear body formation. The study indicated that SP110 has an important role in immunoprotective mechanisms against infectious organisms in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" 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="#2" class="mim-tip-reference" title="Pan, H., Yan, B.-S., Rojas, M., Shebzukhov, Y. V., Zhou, H., Kobzik, L., Higgins, D. E., Daly, M. J., Bloom, B. R., Kramnik, I. <strong>Ipr1 gene mediates innate immunity to tuberculosis.</strong> Nature 434: 767-772, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15815631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15815631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15815631[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/nature03419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15815631">Pan et al. (2005)</a> identified a gene, which they designated intracellular pathogen resistance-1 (Ipr1), within Sst1 (super-susceptibility to tuberculosis-1) in the mouse. The Ipr1 gene is upregulated in the Sst1-resistant macrophages after activation and infection, but it is not expressed in the Sst1-susceptible macrophages. Expression of the Ipr1 transgene in the Sst1-susceptible macrophages limits the multiplication not only of M. tuberculosis but also of Listeria monocytogenes and switches a cell death pathway of the infected macrophages from necrosis to apoptosis. <a href="#2" class="mim-tip-reference" title="Pan, H., Yan, B.-S., Rojas, M., Shebzukhov, Y. V., Zhou, H., Kobzik, L., Higgins, D. E., Daly, M. J., Bloom, B. R., Kramnik, I. <strong>Ipr1 gene mediates innate immunity to tuberculosis.</strong> Nature 434: 767-772, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15815631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15815631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15815631[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/nature03419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15815631">Pan et al. (2005)</a> concluded that the Ipr1 gene product might have a previously undocumented function in integrating signals generated by intracellular pathogens with mechanisms controlling innate immunity, cell death, and pathogenesis. SP110 is the closest homolog of the Ipr1 protein in humans. Both Ipr1 and the human SP110 proteins contain motifs that are involved in protein-protein interactions (Sp100 domain), chromatin binding (SAND domain), nuclear localization signal, and the nuclear receptor-binding (NRB) motif LXXLL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15815631" 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="Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F. <strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong> Nature Genet. 38: 620-622, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>] [<a href="https://doi.org/10.1038/ng1780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648851">Roscioli et al. (2006)</a> identified the SP110 gene within a minimal critical region for hepatic venoocclusive disease with immunodeficiency (VODI; <a href="/entry/235550">235550</a>) on chromosome 2q37.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Hepatic Venoocclusive Disease with Immunodeficiency</em></strong></p><p>
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Hepatic venoocclusive disease with immunodeficiency (VODI; <a href="/entry/235550">235550</a>) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. <a href="#3" class="mim-tip-reference" title="Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F. <strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong> Nature Genet. 38: 620-622, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>] [<a href="https://doi.org/10.1038/ng1780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648851">Roscioli et al. (2006)</a> performed homozygosity mapping in 4 affected individuals with VODI and their parents, mapping the disorder to 2q36.3-q37.1. Fine-mapping studies identified a conserved haplotype of 3 short tandem repeat (STR) markers spanning a genomic interval of 1.422 Mb that contained the SP110 gene. Screening of the coding exons of SP110 for mutations by DNA sequencing identified a homozygous single-base deletion, 642delC (<a href="#0001">604457.0001</a>), in exon 5 in affected individuals from 4 families. In a fifth family no living affected individuals were available, but the consanguineous parents and unaffected children were shown to share a heterozygous single-base deletion, 40delC (<a href="#0002">604457.0002</a>), in exon 2 on a different haplotype background from the other 4 families. That mutation was homozygous in archival material from the deceased member of family 5. Neither mutation was found in 50 unrelated Lebanese controls and no mutation was found in the coding regions of SP110 in 89 isolated cases of common variable immunodeficiency (<a href="/entry/240500">240500</a>) of European or Middle Eastern origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" 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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See <a href="#0003">604457.0003</a> and <a href="#0004">604457.0004</a> for discussion of a possible association between susceptibility to Mycobacterium tuberculosis and variation in the SP110 gene.</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">rs397515361 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515361;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397515361" 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=rs397515361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 4 families of Lebanese extraction, <a href="#3" class="mim-tip-reference" title="Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F. <strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong> Nature Genet. 38: 620-622, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>] [<a href="https://doi.org/10.1038/ng1780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648851">Roscioli et al. (2006)</a> demonstrated that individuals with hepatic venoocclusive disease with immunodeficiency syndrome (VODI; <a href="/entry/235550">235550</a>) carried a homozygous single-base deletion of 642delC (Pro214ProfsTer15) in exon 5 of the SP110 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515362 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515362;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397515362" 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=rs397515362" 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=RCV000005876" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005876" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005876</a>
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<p>In a family of Lebanese extraction, <a href="#3" class="mim-tip-reference" title="Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F. <strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong> Nature Genet. 38: 620-622, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>] [<a href="https://doi.org/10.1038/ng1780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648851">Roscioli et al. (2006)</a> demonstrated that a child who died from hepatic venoocclusive disease with immunodeficiency (VODI; <a href="/entry/235550">235550</a>) was homozygous for a 1-bp deletion, 40delC (Gln14SerfsTer25), in exon 2 of the SP110 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" 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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SP110, LEU425SER (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3948464;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3948464</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> rs3948464 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3948464;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/rs3948464?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=rs3948464" 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=rs3948464" 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=RCV000005877 OR RCV000455916 OR RCV001517855 OR RCV004707848" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005877, RCV000455916, RCV001517855, RCV004707848" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005877...</a>
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<p>This variant, formerly titled MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (see <a href="/entry/607948">607948</a>), has been reclassified based on the findings of <a href="#5" class="mim-tip-reference" title="Thye, T., Browne, E. N., Chinbuah, M. A., Gyapong, J., Osei, I., Owusu-Dabo, E., Niemann, S., Rusch-Gerdes, S., Horstmann, R. D., Meyer, C. G. <strong>No associations of human pulmonary tuberculosis with Sp110 variants.</strong> J. Med. Genet. 43: e32, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16816019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16816019</a>] [<a href="https://doi.org/10.1136/jmg.2005.037960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16816019">Thye et al. (2006)</a> and <a href="#4" class="mim-tip-reference" title="Szeszko, J. S., Healy, B., Stevens, H., Balabanova, Y., Drobniewski, F., Todd, J. A., Nejentsev, S. <strong>Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.</strong> Hum. Genet. 121: 155-160, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17149599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17149599</a>] [<a href="https://doi.org/10.1007/s00439-006-0293-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17149599">Szeszko et al. (2007)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16816019+17149599" 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="#6" class="mim-tip-reference" title="Tosh, K., Campbell, S. J., Fielding, K., Sillah, J., Bah, B., Gustafson, P., Manneh, K., Lisse, I., Sirugo, G., Bennett, S., Aaby, P., McAdam, K. P. W. J., Bah-Sow, O., Lienhardt, C., Kramnik, I., Hill, A. V. S. <strong>Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.</strong> Proc. Nat. Acad. Sci. 103: 10364-10368, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16803959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16803959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16803959[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0603340103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16803959">Tosh et al. (2006)</a> noted that The mouse Ipr1 gene, a homolog of SP110, had been shown to have a major role in the outcome of tuberculosis infection (see <a href="/entry/607948">607948</a>). <a href="#6" class="mim-tip-reference" title="Tosh, K., Campbell, S. J., Fielding, K., Sillah, J., Bah, B., Gustafson, P., Manneh, K., Lisse, I., Sirugo, G., Bennett, S., Aaby, P., McAdam, K. P. W. J., Bah-Sow, O., Lienhardt, C., Kramnik, I., Hill, A. V. S. <strong>Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.</strong> Proc. Nat. Acad. Sci. 103: 10364-10368, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16803959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16803959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16803959[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0603340103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16803959">Tosh et al. (2006)</a> examined 27 SNPs in the SP110 gene in 219 Gambian families and identified 3 that were associated with tuberculosis, including C/T in exon 11 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3948464;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3948464</a>), a nonsynonymous change in which the C allele encodes ser425 and the T allele encodes leu425. The most common allele (C) was transmitted more often than expected to affected offspring. The other 2 SNPs were a T/C change in intron 6 (<a href="#0004">604457.0004</a>) and an A/G change in intron 10. Examination of an additional 99 Guinean and 102 Guinea-Bissau families independently replicated the associations for the SNPs in exon 11 and intron 6. None of the 3 SNPs affected known functional domains of SP110, although the intronic SNPs may have roles in alternative splicing. All 3 associated SNPs in Gambian families were in strong linkage disequilibrium and were found to lie within a 31-kb block of low haplotype diversity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16803959" 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="Thye, T., Browne, E. N., Chinbuah, M. A., Gyapong, J., Osei, I., Owusu-Dabo, E., Niemann, S., Rusch-Gerdes, S., Horstmann, R. D., Meyer, C. G. <strong>No associations of human pulmonary tuberculosis with Sp110 variants.</strong> J. Med. Genet. 43: e32, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16816019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16816019</a>] [<a href="https://doi.org/10.1136/jmg.2005.037960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16816019">Thye et al. (2006)</a> observed no significant differences in the frequencies of 21 SP110 variants, including leu425 to ser, between 2,004 sputum-positive, HIV-negative Ghanaian tuberculosis patients and 1,231 exposed, healthy personal contacts and 1,135 community controls. They concluded that an association of SP110 variants and distinct phenotypes of human M. tuberculosis infection is doubtful. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16816019" 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="Szeszko, J. S., Healy, B., Stevens, H., Balabanova, Y., Drobniewski, F., Todd, J. A., Nejentsev, S. <strong>Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.</strong> Hum. Genet. 121: 155-160, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17149599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17149599</a>] [<a href="https://doi.org/10.1007/s00439-006-0293-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17149599">Szeszko et al. (2007)</a> genotyped 29 SNPs in SP110, including 7 causing amino acid changes, and 15 ancestry-informative markers as genomic controls in nearly 2,000 HIV-seronegative, M. tuberculosis culture-positive Russians and a similar number of controls. They found no evidence for association of SP11O SNPs, including leu425 to ser, with susceptibility to adult pulmonary tuberculosis. <a href="#4" class="mim-tip-reference" title="Szeszko, J. S., Healy, B., Stevens, H., Balabanova, Y., Drobniewski, F., Todd, J. A., Nejentsev, S. <strong>Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.</strong> Hum. Genet. 121: 155-160, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17149599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17149599</a>] [<a href="https://doi.org/10.1007/s00439-006-0293-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17149599">Szeszko et al. (2007)</a> proposed that the effect of SP110 polymorphisms in outbred human populations may be smaller than the effect of Ipr1 in inbred mice and emphasized the importance of whole-genome scans to identify genes and causal variants predisposing to tuberculosis in human populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17149599" 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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SP110, C-T, INTRON 6 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2114592;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2114592</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> rs2114592 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2114592;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/rs2114592?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=rs2114592" 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=rs2114592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>This variant, formerly titled MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (see <a href="/entry/607948">607948</a>), has been reclassified based on the findings of <a href="#5" class="mim-tip-reference" title="Thye, T., Browne, E. N., Chinbuah, M. A., Gyapong, J., Osei, I., Owusu-Dabo, E., Niemann, S., Rusch-Gerdes, S., Horstmann, R. D., Meyer, C. G. <strong>No associations of human pulmonary tuberculosis with Sp110 variants.</strong> J. Med. Genet. 43: e32, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16816019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16816019</a>] [<a href="https://doi.org/10.1136/jmg.2005.037960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16816019">Thye et al. (2006)</a> and <a href="#4" class="mim-tip-reference" title="Szeszko, J. S., Healy, B., Stevens, H., Balabanova, Y., Drobniewski, F., Todd, J. A., Nejentsev, S. <strong>Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.</strong> Hum. Genet. 121: 155-160, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17149599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17149599</a>] [<a href="https://doi.org/10.1007/s00439-006-0293-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17149599">Szeszko et al. (2007)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16816019+17149599" 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="#6" class="mim-tip-reference" title="Tosh, K., Campbell, S. J., Fielding, K., Sillah, J., Bah, B., Gustafson, P., Manneh, K., Lisse, I., Sirugo, G., Bennett, S., Aaby, P., McAdam, K. P. W. J., Bah-Sow, O., Lienhardt, C., Kramnik, I., Hill, A. V. S. <strong>Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.</strong> Proc. Nat. Acad. Sci. 103: 10364-10368, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16803959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16803959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16803959[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0603340103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16803959">Tosh et al. (2006)</a> examined 27 SNPs in the SP110 gene in 219 Gambian families and identified 3 that were associated with tuberculosis, including T/C in intron 6 (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2114592;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2114592</a>). The most common allele (T) was transmitted more often than expected to affected offspring. Examination of an additional 99 Guinean and 102 Guinea-Bissau families independently replicated the association. The SNP did not affect a known functional domain of SP110. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16803959" 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="Thye, T., Browne, E. N., Chinbuah, M. A., Gyapong, J., Osei, I., Owusu-Dabo, E., Niemann, S., Rusch-Gerdes, S., Horstmann, R. D., Meyer, C. G. <strong>No associations of human pulmonary tuberculosis with Sp110 variants.</strong> J. Med. Genet. 43: e32, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16816019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16816019</a>] [<a href="https://doi.org/10.1136/jmg.2005.037960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16816019">Thye et al. (2006)</a> observed no significant differences in the frequencies of 21 SP110 variants, including leu425 to ser (<a href="#0003">604457.0003</a>), between 2,004 sputum-positive, HIV-negative Ghanaian tuberculosis patients and 1,231 exposed, healthy personal contacts and 1,135 community controls. They concluded that an association of SP110 variants and distinct phenotypes of human M. tuberculosis infection is doubtful. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16816019" 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="Szeszko, J. S., Healy, B., Stevens, H., Balabanova, Y., Drobniewski, F., Todd, J. A., Nejentsev, S. <strong>Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.</strong> Hum. Genet. 121: 155-160, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17149599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17149599</a>] [<a href="https://doi.org/10.1007/s00439-006-0293-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17149599">Szeszko et al. (2007)</a> genotyped 29 SNPs in SP110, including 7 causing amino acid changes, and 15 ancestry-informative markers as genomic controls in nearly 2,000 HIV-seronegative, M. tuberculosis culture-positive Russians and a similar number of controls. They found no evidence for association of SP11O SNPs, including leu425 to ser, with susceptibility to adult pulmonary tuberculosis. <a href="#4" class="mim-tip-reference" title="Szeszko, J. S., Healy, B., Stevens, H., Balabanova, Y., Drobniewski, F., Todd, J. A., Nejentsev, S. <strong>Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.</strong> Hum. Genet. 121: 155-160, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17149599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17149599</a>] [<a href="https://doi.org/10.1007/s00439-006-0293-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17149599">Szeszko et al. (2007)</a> proposed that the effect of SP110 polymorphisms in outbred human populations may be smaller than the effect of Ipr1 in inbred mice and emphasized the importance of whole-genome scans to identify genes and causal variants predisposing to tuberculosis in human populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17149599" 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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Kadereit, S., Gewert, D. R., Galabru, J., Hovanessian, A. G., Meurs, E. F.
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Pan, H., Yan, B.-S., Rojas, M., Shebzukhov, Y. V., Zhou, H., Kobzik, L., Higgins, D. E., Daly, M. J., Bloom, B. R., Kramnik, I.
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<strong>Ipr1 gene mediates innate immunity to tuberculosis.</strong>
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Nature 434: 767-772, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15815631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15815631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15815631[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=15815631" 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/nature03419" target="_blank">Full Text</a>]
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Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F.
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<strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong>
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Nature Genet. 38: 620-622, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" 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/ng1780" target="_blank">Full Text</a>]
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Szeszko, J. S., Healy, B., Stevens, H., Balabanova, Y., Drobniewski, F., Todd, J. A., Nejentsev, S.
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<strong>Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.</strong>
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Hum. Genet. 121: 155-160, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17149599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17149599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17149599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Thye, T., Browne, E. N., Chinbuah, M. A., Gyapong, J., Osei, I., Owusu-Dabo, E., Niemann, S., Rusch-Gerdes, S., Horstmann, R. D., Meyer, C. G.
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<strong>No associations of human pulmonary tuberculosis with Sp110 variants.</strong>
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J. Med. Genet. 43: e32, 2006. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16816019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16816019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16816019" 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.2005.037960" target="_blank">Full Text</a>]
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Tosh, K., Campbell, S. J., Fielding, K., Sillah, J., Bah, B., Gustafson, P., Manneh, K., Lisse, I., Sirugo, G., Bennett, S., Aaby, P., McAdam, K. P. W. J., Bah-Sow, O., Lienhardt, C., Kramnik, I., Hill, A. V. S.
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<strong>Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.</strong>
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Proc. Nat. Acad. Sci. 103: 10364-10368, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16803959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16803959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16803959[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=16803959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0603340103" target="_blank">Full Text</a>]
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Welsh, G. I., Kadereit, S., Coccia, E. M., Hovanessian, A. G., Meurs, E. F.
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<strong>Colocalization within the nucleolus of two highly related IFN-induced human nuclear phosphoproteins with nucleolin.</strong>
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Exp. Cell Res. 250: 62-74, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10388521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10388521</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10388521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/excr.1999.4505" target="_blank">Full Text</a>]
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Carol A. Bocchini - updated : 01/05/2015
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Paul J. Converse - updated : 8/21/2007<br>Paul J. Converse - updated : 9/11/2006<br>Paul J. Converse - updated : 8/16/2006<br>Victor A. McKusick - updated : 5/23/2006<br>Ada Hamosh - updated : 6/2/2005
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carol : 01/05/2015<br>carol : 11/26/2014<br>terry : 12/8/2010<br>mgross : 8/30/2007<br>terry : 8/21/2007<br>mgross : 10/2/2006<br>terry : 9/11/2006<br>mgross : 8/23/2006<br>terry : 8/16/2006<br>alopez : 6/1/2006<br>alopez : 5/24/2006<br>alopez : 5/24/2006<br>terry : 5/23/2006<br>tkritzer : 6/6/2005<br>terry : 6/2/2005<br>terry : 3/21/2002<br>carol : 12/19/2001<br>carol : 10/25/2001<br>carol : 1/27/2000
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NUCLEAR BODY PROTEIN SP110; SP110
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<h4>
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<span class="mim-font">
|
|
SPECKLED, 110-KD<br />
|
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INTRACELLULAR PATHOGEN RESISTANCE 1, MOUSE, HOMOLOG OF; IPR1
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</span>
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</h4>
|
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</div>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
|
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INTERFERON-INDUCED PROTEIN 41, INCLUDED; IFI41, INCLUDED
|
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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INTERFERON-INDUCED PROTEIN 75, INCLUDED; IFI75, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SP110</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
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Cytogenetic location: 2q37.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:230,165,186-230,225,636 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
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</th>
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<th>
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|
Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
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</th>
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<th>
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|
Inheritance
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
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</th>
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
2q37.1
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</span>
|
|
</td>
|
|
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<td>
|
|
<span class="mim-font">
|
|
{Mycobacterium tuberculosis, susceptibility to}
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607948
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hepatic venoocclusive disease with immunodeficiency
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
235550
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
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<br />
|
|
</div>
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<div>
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|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
<span class="mim-text-font">
|
|
<p>Exposure to interferons (IFNs; see, for example, 147570) leads to a modulation in the levels of many cellular proteins (see 604456) that mediate the pleiotropic effects of IFNs. Using a rabbit polyclonal antibody against PKR p68 (PRKR; 176871), Kadereit et al. (1993) isolated from interferon-induced Daudi cells crossreacting but otherwise unrelated cDNAs encoding IFI41 and IFI75. IFI75 cDNA hybridized in Northern blots with 2-kb mRNA from IFN-induced cells. IFI41 cDNA hybridized in Northern blots with 2-kb mRNA from IFN-induced cells and with 0.5-kb mRNA from both induced and control cells. Sequence analysis revealed that IFI41 and IFI75 are very hydrophilic 248- and 371-amino acid polypeptides, respectively, are rich in basic residues, and have several potential phosphorylation sites. The 2 proteins contain an identical 204-amino acid stretch and have protamine- and histone-like nuclear targeting sequences. Expression in the rabbit reticulocyte lysate system directed the synthesis of a 52-kD IFI75 protein, higher than the calculated molecular mass of 42 kD. IFI75 expression in Sf9 cells in the baculovirus system resulted in a phosphorylated 65- to 67-kD protein that is associated with the nuclear pellet after NP40 detergent extraction. IFI41 had a molecular mass of 30 kD. In contrast to IFI75, IFI41 was toxic for Sf9 cells in the baculovirus system. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Welsh et al. (1999) demonstrated that IFI41 is localized to the nucleolus in mammalian cells. IFI75 is localized primarily in the periphery of the nucleolus but is also found throughout the nucleoplasm in mammalian cells. Treatment with interferon resulted in a translocation of IFI41 to the periphery of the nucleolus. The authors suggested that IFI41 and IFI75, in association with nucleolin, with which they colocalize, play a role in ribosome biogenesis. </p><p>SP110 is associated with the PML (see 102578) nuclear body, a macromolecular complex within the nucleus that is deployed to areas of active host or viral DNA replication, transcription, and repair. In addition to the regulation of gene transcription, the PML nuclear body is involved in other cellular processes such as apoptosis, cell cycle control, and the immune response. The findings of Roscioli et al. (2006) were consistent with an important role of SP110 in the immune response without being essential for PML nuclear body formation. The study indicated that SP110 has an important role in immunoprotective mechanisms against infectious organisms in humans. </p><p>Pan et al. (2005) identified a gene, which they designated intracellular pathogen resistance-1 (Ipr1), within Sst1 (super-susceptibility to tuberculosis-1) in the mouse. The Ipr1 gene is upregulated in the Sst1-resistant macrophages after activation and infection, but it is not expressed in the Sst1-susceptible macrophages. Expression of the Ipr1 transgene in the Sst1-susceptible macrophages limits the multiplication not only of M. tuberculosis but also of Listeria monocytogenes and switches a cell death pathway of the infected macrophages from necrosis to apoptosis. Pan et al. (2005) concluded that the Ipr1 gene product might have a previously undocumented function in integrating signals generated by intracellular pathogens with mechanisms controlling innate immunity, cell death, and pathogenesis. SP110 is the closest homolog of the Ipr1 protein in humans. Both Ipr1 and the human SP110 proteins contain motifs that are involved in protein-protein interactions (Sp100 domain), chromatin binding (SAND domain), nuclear localization signal, and the nuclear receptor-binding (NRB) motif LXXLL. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Roscioli et al. (2006) identified the SP110 gene within a minimal critical region for hepatic venoocclusive disease with immunodeficiency (VODI; 235550) on chromosome 2q37.1. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Hepatic Venoocclusive Disease with Immunodeficiency</em></strong></p><p>
|
|
Hepatic venoocclusive disease with immunodeficiency (VODI; 235550) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. Roscioli et al. (2006) performed homozygosity mapping in 4 affected individuals with VODI and their parents, mapping the disorder to 2q36.3-q37.1. Fine-mapping studies identified a conserved haplotype of 3 short tandem repeat (STR) markers spanning a genomic interval of 1.422 Mb that contained the SP110 gene. Screening of the coding exons of SP110 for mutations by DNA sequencing identified a homozygous single-base deletion, 642delC (604457.0001), in exon 5 in affected individuals from 4 families. In a fifth family no living affected individuals were available, but the consanguineous parents and unaffected children were shown to share a heterozygous single-base deletion, 40delC (604457.0002), in exon 2 on a different haplotype background from the other 4 families. That mutation was homozygous in archival material from the deceased member of family 5. Neither mutation was found in 50 unrelated Lebanese controls and no mutation was found in the coding regions of SP110 in 89 isolated cases of common variable immunodeficiency (240500) of European or Middle Eastern origin. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
See 604457.0003 and 604457.0004 for discussion of a possible association between susceptibility to Mycobacterium tuberculosis and variation in the SP110 gene.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SP110, 1-BP DEL, 642C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515361,
|
|
|
|
|
|
|
|
ClinVar: RCV000005875
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 families of Lebanese extraction, Roscioli et al. (2006) demonstrated that individuals with hepatic venoocclusive disease with immunodeficiency syndrome (VODI; 235550) carried a homozygous single-base deletion of 642delC (Pro214ProfsTer15) in exon 5 of the SP110 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SP110, 1-BP DEL, 40C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515362,
|
|
|
|
|
|
|
|
ClinVar: RCV000005876
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family of Lebanese extraction, Roscioli et al. (2006) demonstrated that a child who died from hepatic venoocclusive disease with immunodeficiency (VODI; 235550) was homozygous for a 1-bp deletion, 40delC (Gln14SerfsTer25), in exon 2 of the SP110 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SP110, LEU425SER ({dbSNP rs3948464})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs3948464,
|
|
|
|
|
|
gnomAD: rs3948464,
|
|
|
|
|
|
ClinVar: RCV000005877, RCV000455916, RCV001517855, RCV004707848
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant, formerly titled MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (see 607948), has been reclassified based on the findings of Thye et al. (2006) and Szeszko et al. (2007). </p><p>Tosh et al. (2006) noted that The mouse Ipr1 gene, a homolog of SP110, had been shown to have a major role in the outcome of tuberculosis infection (see 607948). Tosh et al. (2006) examined 27 SNPs in the SP110 gene in 219 Gambian families and identified 3 that were associated with tuberculosis, including C/T in exon 11 (rs3948464), a nonsynonymous change in which the C allele encodes ser425 and the T allele encodes leu425. The most common allele (C) was transmitted more often than expected to affected offspring. The other 2 SNPs were a T/C change in intron 6 (604457.0004) and an A/G change in intron 10. Examination of an additional 99 Guinean and 102 Guinea-Bissau families independently replicated the associations for the SNPs in exon 11 and intron 6. None of the 3 SNPs affected known functional domains of SP110, although the intronic SNPs may have roles in alternative splicing. All 3 associated SNPs in Gambian families were in strong linkage disequilibrium and were found to lie within a 31-kb block of low haplotype diversity. </p><p>Thye et al. (2006) observed no significant differences in the frequencies of 21 SP110 variants, including leu425 to ser, between 2,004 sputum-positive, HIV-negative Ghanaian tuberculosis patients and 1,231 exposed, healthy personal contacts and 1,135 community controls. They concluded that an association of SP110 variants and distinct phenotypes of human M. tuberculosis infection is doubtful. </p><p>Szeszko et al. (2007) genotyped 29 SNPs in SP110, including 7 causing amino acid changes, and 15 ancestry-informative markers as genomic controls in nearly 2,000 HIV-seronegative, M. tuberculosis culture-positive Russians and a similar number of controls. They found no evidence for association of SP11O SNPs, including leu425 to ser, with susceptibility to adult pulmonary tuberculosis. Szeszko et al. (2007) proposed that the effect of SP110 polymorphisms in outbred human populations may be smaller than the effect of Ipr1 in inbred mice and emphasized the importance of whole-genome scans to identify genes and causal variants predisposing to tuberculosis in human populations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SP110, C-T, INTRON 6 ({dbSNP rs2114592})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2114592,
|
|
|
|
|
|
gnomAD: rs2114592,
|
|
|
|
|
|
ClinVar: RCV000005878
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>This variant, formerly titled MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (see 607948), has been reclassified based on the findings of Thye et al. (2006) and Szeszko et al. (2007). </p><p>Tosh et al. (2006) examined 27 SNPs in the SP110 gene in 219 Gambian families and identified 3 that were associated with tuberculosis, including T/C in intron 6 (rs2114592). The most common allele (T) was transmitted more often than expected to affected offspring. Examination of an additional 99 Guinean and 102 Guinea-Bissau families independently replicated the association. The SNP did not affect a known functional domain of SP110. </p><p>Thye et al. (2006) observed no significant differences in the frequencies of 21 SP110 variants, including leu425 to ser (604457.0003), between 2,004 sputum-positive, HIV-negative Ghanaian tuberculosis patients and 1,231 exposed, healthy personal contacts and 1,135 community controls. They concluded that an association of SP110 variants and distinct phenotypes of human M. tuberculosis infection is doubtful. </p><p>Szeszko et al. (2007) genotyped 29 SNPs in SP110, including 7 causing amino acid changes, and 15 ancestry-informative markers as genomic controls in nearly 2,000 HIV-seronegative, M. tuberculosis culture-positive Russians and a similar number of controls. They found no evidence for association of SP11O SNPs, including leu425 to ser, with susceptibility to adult pulmonary tuberculosis. Szeszko et al. (2007) proposed that the effect of SP110 polymorphisms in outbred human populations may be smaller than the effect of Ipr1 in inbred mice and emphasized the importance of whole-genome scans to identify genes and causal variants predisposing to tuberculosis in human populations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kadereit, S., Gewert, D. R., Galabru, J., Hovanessian, A. G., Meurs, E. F.
|
|
<strong>Molecular cloning of two new interferon-induced, highly related nuclear phosphoproteins.</strong>
|
|
J. Biol. Chem. 268: 24432-24441, 1993.
|
|
|
|
|
|
[PubMed: 7693701]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pan, H., Yan, B.-S., Rojas, M., Shebzukhov, Y. V., Zhou, H., Kobzik, L., Higgins, D. E., Daly, M. J., Bloom, B. R., Kramnik, I.
|
|
<strong>Ipr1 gene mediates innate immunity to tuberculosis.</strong>
|
|
Nature 434: 767-772, 2005.
|
|
|
|
|
|
[PubMed: 15815631]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature03419]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F.
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<strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong>
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Nature Genet. 38: 620-622, 2006.
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[PubMed: 16648851]
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[Full Text: https://doi.org/10.1038/ng1780]
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Szeszko, J. S., Healy, B., Stevens, H., Balabanova, Y., Drobniewski, F., Todd, J. A., Nejentsev, S.
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<strong>Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.</strong>
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Hum. Genet. 121: 155-160, 2007.
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[PubMed: 17149599]
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[Full Text: https://doi.org/10.1007/s00439-006-0293-z]
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Thye, T., Browne, E. N., Chinbuah, M. A., Gyapong, J., Osei, I., Owusu-Dabo, E., Niemann, S., Rusch-Gerdes, S., Horstmann, R. D., Meyer, C. G.
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<strong>No associations of human pulmonary tuberculosis with Sp110 variants.</strong>
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J. Med. Genet. 43: e32, 2006. Note: Electronic Article.
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[PubMed: 16816019]
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[Full Text: https://doi.org/10.1136/jmg.2005.037960]
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Tosh, K., Campbell, S. J., Fielding, K., Sillah, J., Bah, B., Gustafson, P., Manneh, K., Lisse, I., Sirugo, G., Bennett, S., Aaby, P., McAdam, K. P. W. J., Bah-Sow, O., Lienhardt, C., Kramnik, I., Hill, A. V. S.
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<strong>Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.</strong>
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Proc. Nat. Acad. Sci. 103: 10364-10368, 2006.
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[PubMed: 16803959]
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[Full Text: https://doi.org/10.1073/pnas.0603340103]
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Welsh, G. I., Kadereit, S., Coccia, E. M., Hovanessian, A. G., Meurs, E. F.
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<strong>Colocalization within the nucleolus of two highly related IFN-induced human nuclear phosphoproteins with nucleolin.</strong>
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Exp. Cell Res. 250: 62-74, 1999.
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[PubMed: 10388521]
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[Full Text: https://doi.org/10.1006/excr.1999.4505]
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Paul J. Converse : 1/24/2000
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