3198 lines
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- *600478 - SKI2 SUBUNIT OF SUPERKILLER COMPLEX; SKIC2
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- OMIM
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<p>
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<span class="h4">*600478</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 role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600478">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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<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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<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=ENSG00000204351;t=ENST00000375394" 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=6499" 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=600478" 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 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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<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=ENSG00000204351;t=ENST00000375394" 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_006929,XM_011514815,XM_047419259,XM_047419260" 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_006929" 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=600478" 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=02724&isoform_id=02724_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/SKIC2" 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/1209652,1403336,1754827,2347134,3395783,4379045,7671650,13540801,16041755,62088790,67782311,119623959,119623960,119623961,119623962,194375852,194382014,194382646,194386298,194389664,313104288,699785231,767940526,1159611355,1159611357,1159611359,1159611361,1159611363,1159611365,1159611367,1159611369,1159611371,1159611373,1159611375,2217362815,2217362817,2462492487,2462492489,2462492491,2462493457,2462493459,2462493461,2462494515,2462494517,2462494519,2462495055,2462495057,2462495059,2462495584,2462495586,2462495588,2462610194,2462610196,2462610198" 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/Q15477" 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=6499" 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=ENSG00000204351;t=ENST00000375394" 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=SKIC2" 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=SKIC2" 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+6499" 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/SKIC2" 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:6499" 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/6499" 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=chr6&hgg_gene=ENST00000375394.7&hgg_start=31959175&hgg_end=31969751&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:10898" 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/skic2" 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=600478[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=600478[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/ENSG00000204351" 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=SKIC2" 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=SKIC2" 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=SKIC2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SKIC2&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/PA35798" 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:10898" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0039117.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1099835" 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/SKIC2#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1099835" 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/6499/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=6499" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00008502;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-010430-5" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6499" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SKIC2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600478
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SKI2 SUBUNIT OF SUPERKILLER COMPLEX; SKIC2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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SKI2-LIKE RNA HELICASE; SKIV2L<br />
|
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SUPERKILLER VIRALICIDIC ACTIVITY 2, S. CEREVISIAE, HOMOLOG-LIKE<br />
|
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SKI2, S. CEREVISIAE, HOMOLOG OF; SKI2<br />
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SKI2W
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SKIC2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SKIC2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/6/345?start=-3&limit=10&highlight=345">6p21.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:31959175-31969751&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'})">6:31,959,175-31,969,751</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/345?start=-3&limit=10&highlight=345">
|
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6p21.33
|
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</a>
|
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</span>
|
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</td>
|
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|
|
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<td>
|
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<span class="mim-font">
|
|
Trichohepatoenteric syndrome 2
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/614602"> 614602 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600478" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600478" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<p><a href="#4" class="mim-tip-reference" title="Lee, S.-G., Lee, I., Park, S. H., Kang, C., Song, K. <strong>Identification and characterization of a human cDNA homologous to yeast SKI2.</strong> Genomics 25: 660-666, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7759100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7759100</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80008-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7759100">Lee et al. (1995)</a> identified a human cDNA with sequence homology to the yeast nucleolar protein gene SKI2. SKI2 belongs to a group of 6 yeast genes that repress the copy number of single- and double-stranded RNA viruses. <a href="#4" class="mim-tip-reference" title="Lee, S.-G., Lee, I., Park, S. H., Kang, C., Song, K. <strong>Identification and characterization of a human cDNA homologous to yeast SKI2.</strong> Genomics 25: 660-666, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7759100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7759100</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80008-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7759100">Lee et al. (1995)</a> identified the cDNA by immunoscreening an expression library with a monoclonal antibody raised against bovine pigmented retinal cells. The antibody recognizes a 90-kD nuclear antigen in a number of species. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7759100" 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>Helicases are involved in DNA replication, DNA repair, recombination, transcription, RNA splicing, and translation. <a href="#2" class="mim-tip-reference" title="Dangel, A. W., Shen, L., Mendoza, A. R., Wu, L.-c., Yu, C. Y. <strong>Human helicase gene SKI2W in the HLA class III region exhibits striking structural similarities to the yeast antiviral gene SKI2 and to the human gene KIAA0052: emergence of a new gene family.</strong> Nucleic Acids Res. 23: 2120-2126, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7610041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7610041</a>] [<a href="https://doi.org/10.1093/nar/23.12.2120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7610041">Dangel et al. (1995)</a> cloned a putative human helicase, which they designated SKI2W, that is located between the RD gene (<a href="/entry/154040">154040</a>) and a gene they called RP1 (D6S60E; see <a href="#6" class="mim-tip-reference" title="Shen, L., Wu, L. C., Sanlioglu, S., Chen, R., Mendoza, A. R., Dangel, A. W., Carroll, M. C., Zipf, W. B., Yu, C. Y. <strong>Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region: molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication.</strong> J. Biol. Chem. 269: 8466-8476, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8132574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8132574</a>]" pmid="8132574">Shen et al., 1994</a>) in the class III region of the major histocompatibility complex on chromosome 6. The gene occurs within an approximately 11-kb span between RD and RP1. The cDNA was isolated from a set of lymphocyte libraries and the predicted 1,246-amino acid protein (137 kD) contains motifs associated with RNA helicases and has a leucine zipper domain. The protein shares extensive similarity (39% identity) to the yeast Ski2p gene which is involved in the inhibition of translation of non-polyadenylated RNA and has an important role in defense against infection by single- and double-stranded RNA viruses. The authors showed that the recombinant SKI2W protein exhibits ATPase activity. Northern blots indicated a 3.9-kb transcript in a variety of human transformed lines. <a href="#2" class="mim-tip-reference" title="Dangel, A. W., Shen, L., Mendoza, A. R., Wu, L.-c., Yu, C. Y. <strong>Human helicase gene SKI2W in the HLA class III region exhibits striking structural similarities to the yeast antiviral gene SKI2 and to the human gene KIAA0052: emergence of a new gene family.</strong> Nucleic Acids Res. 23: 2120-2126, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7610041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7610041</a>] [<a href="https://doi.org/10.1093/nar/23.12.2120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7610041">Dangel et al. (1995)</a> stated that this gene was very similar in sequence to that reported by <a href="#4" class="mim-tip-reference" title="Lee, S.-G., Lee, I., Park, S. H., Kang, C., Song, K. <strong>Identification and characterization of a human cDNA homologous to yeast SKI2.</strong> Genomics 25: 660-666, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7759100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7759100</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80008-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7759100">Lee et al. (1995)</a> and that discrepancies between the 2 sequences were probably the result of cloning artifacts. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7610041+7759100+8132574" 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>Inherently unstable mammalian mRNAs contain AU-rich elements (AREs) within their 3-prime untranslated regions. In yeast, 3-prime-to-5-prime mRNA degradation is mediated by the exosome, a multisubunit particle. <a href="#1" class="mim-tip-reference" title="Chen, C.-Y., Gherzi, R., Ong, S.-E., Chan, E. L., Raijmakers, R., Pruijn, G. J. M., Stoecklin, G., Moroni, C., Mann, M., Karin, M. <strong>AU binding proteins recruit the exosome to degrade ARE-containing mRNAs.</strong> Cell 107: 451-464, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11719186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11719186</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00578-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11719186">Chen et al. (2001)</a> purified and characterized the human exosome by mass spectrometry and found its composition to be similar to its yeast counterpart. They identified the following protein subunits within the human exosome: p7, which is homologous to the yeast Rrp4 protein (<a href="/entry/602238">602238</a>); p8, which is homologous to the yeast Rrp42 protein (<a href="/entry/606488">606488</a>); p9, which is homologous to the yeast Rrp43 protein (OIP2; <a href="/entry/606019">606019</a>); p10, which is homologous to the yeast Rrp40 protein (<a href="/entry/606489">606489</a>); p11, which is homologous to the yeast Mtr3 protein (<a href="/entry/606490">606490</a>); p12A, which is homologous to the yeast Rrp41 protein (<a href="/entry/606491">606491</a>); p12B, which is homologous to the yeast Rrp46 protein (<a href="/entry/606492">606492</a>); and p13, which is homologous to the yeast Csl4 protein (<a href="/entry/606493">606493</a>). They also identified 2 exosome-associated factors, p1 (SKIV2L) and p14 (MPP6; <a href="/entry/605500">605500</a>), that were not homologous to any yeast exosome components. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11719186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#8" class="mim-tip-reference" title="Yang, Z., Shen, L., Dangel, A. W., Wu, L.-C., Yu, C. Y. <strong>Four ubiquitously expressed genes, RD (D6S45)-SKI2W (SKIV2L)-DOM3Z-RP1 (D6S60E), are present between complement component genes factor B and C4 in the class III region of the HLA.</strong> Genomics 53: 338-347, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9799600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9799600</a>] [<a href="https://doi.org/10.1006/geno.1998.5499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9799600">Yang et al. (1998)</a> determined that SKIV2L is a polymorphic gene that spans 11 kb and contains 28 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9799600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Lee, S.-G., Lee, I., Park, S. H., Kang, C., Song, K. <strong>Identification and characterization of a human cDNA homologous to yeast SKI2.</strong> Genomics 25: 660-666, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7759100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7759100</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80008-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7759100">Lee et al. (1995)</a> isolated genomic clones and mapped the human homolog of SKI2 gene to 6p21 by fluorescence in situ hybridization. By genomic sequence analysis, <a href="#8" class="mim-tip-reference" title="Yang, Z., Shen, L., Dangel, A. W., Wu, L.-C., Yu, C. Y. <strong>Four ubiquitously expressed genes, RD (D6S45)-SKI2W (SKIV2L)-DOM3Z-RP1 (D6S60E), are present between complement component genes factor B and C4 in the class III region of the HLA.</strong> Genomics 53: 338-347, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9799600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9799600</a>] [<a href="https://doi.org/10.1006/geno.1998.5499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9799600">Yang et al. (1998)</a> determined that the SKIV2L gene is located 171 bp downstream from the RD gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9799600+7759100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Stumpf, A. M. <strong>Personal Communication.</strong> Baltimore, Md. 07/29/2022."None>Stumpf (2022)</a> mapped the SKIC2 gene to chromosome 6p21.33 based on an alignment of the SKIC2 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC015758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC015758</a>) with the genomic sequence (GRCh38).</p>
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<p>Using a cell-free RNA decay system, <a href="#1" class="mim-tip-reference" title="Chen, C.-Y., Gherzi, R., Ong, S.-E., Chan, E. L., Raijmakers, R., Pruijn, G. J. M., Stoecklin, G., Moroni, C., Mann, M., Karin, M. <strong>AU binding proteins recruit the exosome to degrade ARE-containing mRNAs.</strong> Cell 107: 451-464, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11719186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11719186</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00578-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11719186">Chen et al. (2001)</a> demonstrated that the mammalian exosome is required for rapid degradation of ARE-containing RNAs but not for poly(A) shortening. They found that the mammalian exosome does not recognize ARE-containing RNAs on its own. ARE recognition required certain ARE-binding proteins that could interact with the exosome and recruit it to unstable RNAs, thereby promoting their rapid degradation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11719186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 6 unrelated patients with typical trichohepatoenteric syndrome (THES2; <a href="/entry/614602">614602</a>) who were known to be negative for mutation in the TTC37 gene (<a href="/entry/614589">614589</a>), <a href="#3" class="mim-tip-reference" title="Fabre, A., Charroux, B., Martinez-Vinson, C., Roquelaure, B., Odul, E., Sayar, E., Smith, H., Colomb, V., Andre, N., Hugot, J.-P., Goulet, O., Lacoste, C., Sarles, J., Royet, J., Levy, N., Badens, C. <strong>SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.</strong> Am. J. Hum. Genet. 90: 689-692, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22444670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22444670</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.02.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22444670">Fabre et al. (2012)</a> sequenced the candidate gene SKIV2L and identified homozygosity or compound heterozygosity for 8 different mutations, respectively, in all patients (see, e.g., <a href="#0001">600478.0001</a>-<a href="#0003">600478.0003</a>). All of the unaffected parents available for analysis were heterozygous for 1 of the mutations identified in their child. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22444670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 sibs from 3 consanguineous Saudi families with THES who also exhibited cafe-au-lait spots below the waist, <a href="#5" class="mim-tip-reference" title="Monies, D. M., Rahbeeni, Z., Abouelhoda, M., Naim, E. A., Al-Younes, B., Meyer, B. F., Al-Mehaidib, A. <strong>Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.</strong> J. Pediat. Gastroent. Nutr. 60: 352-356, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714577</a>] [<a href="https://doi.org/10.1097/MPG.0000000000000627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25714577">Monies et al. (2015)</a> identified homozygosity for a 21-bp deletion in the SKIV2L gene (<a href="#0004">600478.0004</a>) that was confirmed by Sanger sequencing and segregated with disease in each family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 17-month-old Han Chinese boy with THES, <a href="#9" class="mim-tip-reference" title="Zheng, B., Pan, J., Jin, Y., Wang, C., Liu, Z. <strong>Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.</strong> Molec. Med. Rep. 14: 2107-2110, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27431780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27431780</a>] [<a href="https://doi.org/10.3892/mmr.2016.5503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27431780">Zheng et al. (2016)</a> analyzed the SKIV2L gene and identified compound heterozygosity for a nonsense mutation (R374X; <a href="#0005">600478.0005</a>) and a missense mutation (G631S; <a href="#0006">600478.0006</a>), for which his unaffected parents were heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27431780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600478[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 TRICHOHEPATOENTERIC SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs751026211 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs751026211;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/rs751026211?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=rs751026211" 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=rs751026211" 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=RCV000022972 OR RCV003390696 OR RCV003556070" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022972, RCV003390696, RCV003556070" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022972...</a>
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<p>In a French patient with trichohepatoenteric syndrome (THES2; <a href="/entry/614602">614602</a>), <a href="#3" class="mim-tip-reference" title="Fabre, A., Charroux, B., Martinez-Vinson, C., Roquelaure, B., Odul, E., Sayar, E., Smith, H., Colomb, V., Andre, N., Hugot, J.-P., Goulet, O., Lacoste, C., Sarles, J., Royet, J., Levy, N., Badens, C. <strong>SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.</strong> Am. J. Hum. Genet. 90: 689-692, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22444670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22444670</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.02.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22444670">Fabre et al. (2012)</a> identified compound heterozygosity for a c.848G-A transition (c.848G-A, NM_006929.4) in the SKIV2L (SKIC2) gene, resulting in a trp283-to-ter (W283X) substitution, and a c.1022T-G transversion, resulting in a val341-to-gly (V341G; <a href="#0002">600478.0002</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22444670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 TRICHOHEPATOENTERIC SYNDROME 2</strong>
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SKIC2, VAL341GLY
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1582171003 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1582171003;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=rs1582171003" 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=rs1582171003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022973 OR RCV000059689" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022973, RCV000059689" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022973...</a>
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<p>For discussion of the c.1022T-G transversion (c.1022T-G, NM_006929.4) in the SKIV2L (SKIC2) gene, resulting in a val341-to-gly (V341G) substitution, that was found in compound heterozygous state in a patient with trichohepatoenteric syndrome (THES2; <a href="/entry/614602">614602</a>) by <a href="#3" class="mim-tip-reference" title="Fabre, A., Charroux, B., Martinez-Vinson, C., Roquelaure, B., Odul, E., Sayar, E., Smith, H., Colomb, V., Andre, N., Hugot, J.-P., Goulet, O., Lacoste, C., Sarles, J., Royet, J., Levy, N., Badens, C. <strong>SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.</strong> Am. J. Hum. Genet. 90: 689-692, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22444670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22444670</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.02.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22444670">Fabre et al. (2012)</a>, see <a href="#0001">600478.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22444670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 TRICHOHEPATOENTERIC SYNDROME 2</strong>
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SKIC2, 1-BP INS, 1635A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1562659544 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1562659544;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=rs1562659544" 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=rs1562659544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022974 OR RCV001008816" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022974, RCV001008816" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022974...</a>
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<p>In a North African patient with trichohepatoenteric syndrome-2 (THES2; <a href="/entry/614602">614602</a>), <a href="#3" class="mim-tip-reference" title="Fabre, A., Charroux, B., Martinez-Vinson, C., Roquelaure, B., Odul, E., Sayar, E., Smith, H., Colomb, V., Andre, N., Hugot, J.-P., Goulet, O., Lacoste, C., Sarles, J., Royet, J., Levy, N., Badens, C. <strong>SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.</strong> Am. J. Hum. Genet. 90: 689-692, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22444670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22444670</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.02.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22444670">Fabre et al. (2012)</a> identified homozygosity for a 1-bp insertion (c.1635insA, NM_006929.4) in the SKIV2L (SKIC2) gene, causing a frameshift predicted to result in a premature termination codon (Gly546ArgfsTer35). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22444670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 TRICHOHEPATOENTERIC SYNDROME 2</strong>
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SKIC2, 21-BP DEL, NT3559
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1582192007 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1582192007;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=rs1582192007" 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=rs1582192007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000985128 OR RCV001732004" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000985128, RCV001732004" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000985128...</a>
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<p>In 5 sibs from 3 consanguineous Saudi families (families 1, 3, and 4) with THES who also exhibited cafe-au-lait spots below the waist (THES2; <a href="/entry/614602">614602</a>), <a href="#5" class="mim-tip-reference" title="Monies, D. M., Rahbeeni, Z., Abouelhoda, M., Naim, E. A., Al-Younes, B., Meyer, B. F., Al-Mehaidib, A. <strong>Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.</strong> J. Pediat. Gastroent. Nutr. 60: 352-356, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714577</a>] [<a href="https://doi.org/10.1097/MPG.0000000000000627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25714577">Monies et al. (2015)</a> identified homozygosity for a 21-bp deletion (c.3559_3579del) in exon 28 of the SKIC2 gene, resulting in the in-frame deletion of 7 amino acids (p.1187_1193del) within the DOB1/SK12/helY-like DEAD box helicase C-terminal domain. Sanger sequencing confirmed the deletion and its segregation with disease in each family. Functional studies of the mutation were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0005 TRICHOHEPATOENTERIC SYNDROME 2</strong>
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SKIC2, ARG374TER (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200818962;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs200818962</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> rs200818962 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200818962;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/rs200818962?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=rs200818962" 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=rs200818962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000224429 OR RCV000778788 OR RCV004752805" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000224429, RCV000778788, RCV004752805" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000224429...</a>
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<p>In a 17-month-old Han Chinese boy with trichohepatoenteric syndrome (THES2; <a href="/entry/614602">614602</a>), <a href="#9" class="mim-tip-reference" title="Zheng, B., Pan, J., Jin, Y., Wang, C., Liu, Z. <strong>Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.</strong> Molec. Med. Rep. 14: 2107-2110, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27431780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27431780</a>] [<a href="https://doi.org/10.3892/mmr.2016.5503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27431780">Zheng et al. (2016)</a> identified compound heterozygosity for a c.1120C-T transition (c.1120C-T, NM_600478) in the SKIC2 gene, resulting in an arg374-to-ter (R374X) substitution, and a c.1891G-A transition, resulting in a gly631-to-ser (G631X) substitution at a highly conserved residue. Functional studies of the mutations were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27431780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<strong>.0006 TRICHOHEPATOENTERIC SYNDROME 2</strong>
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SKIC2, GLY631SER
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002290870" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002290870" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002290870</a>
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<p>For discussion of the c.1891G-A transition (c.1891G-A, NM_600478) in the SKIC2 gene, resulting in a gly631-to-ser (G631S) substitution, that was found in compound heterozygous state in a 17-month-old Han Chinese boy with trichohepatoenteric syndrome (THES2; <a href="/entry/614602">614602</a>) by <a href="#9" class="mim-tip-reference" title="Zheng, B., Pan, J., Jin, Y., Wang, C., Liu, Z. <strong>Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.</strong> Molec. Med. Rep. 14: 2107-2110, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27431780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27431780</a>] [<a href="https://doi.org/10.3892/mmr.2016.5503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27431780">Zheng et al. (2016)</a>, see <a href="#0005">600478.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27431780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Chen2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Chen, C.-Y., Gherzi, R., Ong, S.-E., Chan, E. L., Raijmakers, R., Pruijn, G. J. M., Stoecklin, G., Moroni, C., Mann, M., Karin, M.
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<strong>AU binding proteins recruit the exosome to degrade ARE-containing mRNAs.</strong>
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Cell 107: 451-464, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11719186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11719186</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11719186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(01)00578-5" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Dangel1995" class="mim-anchor"></a>
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<p class="mim-text-font">
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Dangel, A. W., Shen, L., Mendoza, A. R., Wu, L.-c., Yu, C. Y.
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<strong>Human helicase gene SKI2W in the HLA class III region exhibits striking structural similarities to the yeast antiviral gene SKI2 and to the human gene KIAA0052: emergence of a new gene family.</strong>
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Nucleic Acids Res. 23: 2120-2126, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7610041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7610041</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7610041" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/23.12.2120" target="_blank">Full Text</a>]
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<a id="Fabre2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fabre, A., Charroux, B., Martinez-Vinson, C., Roquelaure, B., Odul, E., Sayar, E., Smith, H., Colomb, V., Andre, N., Hugot, J.-P., Goulet, O., Lacoste, C., Sarles, J., Royet, J., Levy, N., Badens, C.
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|
<strong>SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.</strong>
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Am. J. Hum. Genet. 90: 689-692, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22444670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22444670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22444670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.02.009" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Lee1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lee, S.-G., Lee, I., Park, S. H., Kang, C., Song, K.
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<strong>Identification and characterization of a human cDNA homologous to yeast SKI2.</strong>
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Genomics 25: 660-666, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7759100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7759100</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7759100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(95)80008-a" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Monies2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Monies, D. M., Rahbeeni, Z., Abouelhoda, M., Naim, E. A., Al-Younes, B., Meyer, B. F., Al-Mehaidib, A.
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<strong>Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.</strong>
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J. Pediat. Gastroent. Nutr. 60: 352-356, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25714577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25714577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25714577" 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/10.1097/MPG.0000000000000627" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Shen1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shen, L., Wu, L. C., Sanlioglu, S., Chen, R., Mendoza, A. R., Dangel, A. W., Carroll, M. C., Zipf, W. B., Yu, C. Y.
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<strong>Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region: molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication.</strong>
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J. Biol. Chem. 269: 8466-8476, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8132574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8132574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8132574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Stumpf2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 07/29/2022.
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<a id="8" class="mim-anchor"></a>
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<a id="Yang1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, Z., Shen, L., Dangel, A. W., Wu, L.-C., Yu, C. Y.
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<strong>Four ubiquitously expressed genes, RD (D6S45)-SKI2W (SKIV2L)-DOM3Z-RP1 (D6S60E), are present between complement component genes factor B and C4 in the class III region of the HLA.</strong>
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Genomics 53: 338-347, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9799600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9799600</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9799600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1998.5499" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Zheng2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zheng, B., Pan, J., Jin, Y., Wang, C., Liu, Z.
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<strong>Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.</strong>
|
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Molec. Med. Rep. 14: 2107-2110, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27431780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27431780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27431780" 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/10.3892/mmr.2016.5503" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Marla J. F. O'Neill - updated : 10/10/2022
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Marla J. F. O'Neill - updated : 4/27/2012<br>Stylianos E. Antonarakis - updated : 11/26/2001<br>Paul J. Converse - updated : 6/6/2001<br>Alan F. Scott - updated : 11/7/1995
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 4/1/1995
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carol : 01/20/2023
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<span class="mim-text-font">
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alopez : 10/10/2022<br>alopez : 07/29/2022<br>carol : 09/19/2019<br>carol : 01/17/2019<br>mcolton : 08/18/2015<br>carol : 4/27/2012<br>mgross : 11/26/2001<br>mgross : 11/26/2001<br>mgross : 6/7/2001<br>terry : 6/6/2001<br>psherman : 5/20/1998<br>jamie : 2/12/1997<br>terry : 4/17/1996<br>mark : 3/25/1996<br>mark : 7/11/1995<br>mark : 4/24/1995<br>mark : 4/4/1995<br>mark : 4/1/1995
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<strong>*</strong> 600478
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<h3>
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SKI2 SUBUNIT OF SUPERKILLER COMPLEX; SKIC2
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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SKI2-LIKE RNA HELICASE; SKIV2L<br />
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SUPERKILLER VIRALICIDIC ACTIVITY 2, S. CEREVISIAE, HOMOLOG-LIKE<br />
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SKI2, S. CEREVISIAE, HOMOLOG OF; SKI2<br />
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SKI2W
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SKIC2</em></strong>
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<strong>
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<em>
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Cytogenetic location: 6p21.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:31,959,175-31,969,751 </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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<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>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
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<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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|
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<tr>
|
|
<td rowspan="1">
|
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<span class="mim-font">
|
|
6p21.33
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
Trichohepatoenteric syndrome 2
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</span>
|
|
</td>
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<td>
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|
<span class="mim-font">
|
|
614602
|
|
</span>
|
|
</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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|
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|
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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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<br />
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|
</div>
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<div>
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|
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<h4>
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<span class="mim-font">
|
|
<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
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|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Lee et al. (1995) identified a human cDNA with sequence homology to the yeast nucleolar protein gene SKI2. SKI2 belongs to a group of 6 yeast genes that repress the copy number of single- and double-stranded RNA viruses. Lee et al. (1995) identified the cDNA by immunoscreening an expression library with a monoclonal antibody raised against bovine pigmented retinal cells. The antibody recognizes a 90-kD nuclear antigen in a number of species. </p><p>Helicases are involved in DNA replication, DNA repair, recombination, transcription, RNA splicing, and translation. Dangel et al. (1995) cloned a putative human helicase, which they designated SKI2W, that is located between the RD gene (154040) and a gene they called RP1 (D6S60E; see Shen et al., 1994) in the class III region of the major histocompatibility complex on chromosome 6. The gene occurs within an approximately 11-kb span between RD and RP1. The cDNA was isolated from a set of lymphocyte libraries and the predicted 1,246-amino acid protein (137 kD) contains motifs associated with RNA helicases and has a leucine zipper domain. The protein shares extensive similarity (39% identity) to the yeast Ski2p gene which is involved in the inhibition of translation of non-polyadenylated RNA and has an important role in defense against infection by single- and double-stranded RNA viruses. The authors showed that the recombinant SKI2W protein exhibits ATPase activity. Northern blots indicated a 3.9-kb transcript in a variety of human transformed lines. Dangel et al. (1995) stated that this gene was very similar in sequence to that reported by Lee et al. (1995) and that discrepancies between the 2 sequences were probably the result of cloning artifacts. </p><p>Inherently unstable mammalian mRNAs contain AU-rich elements (AREs) within their 3-prime untranslated regions. In yeast, 3-prime-to-5-prime mRNA degradation is mediated by the exosome, a multisubunit particle. Chen et al. (2001) purified and characterized the human exosome by mass spectrometry and found its composition to be similar to its yeast counterpart. They identified the following protein subunits within the human exosome: p7, which is homologous to the yeast Rrp4 protein (602238); p8, which is homologous to the yeast Rrp42 protein (606488); p9, which is homologous to the yeast Rrp43 protein (OIP2; 606019); p10, which is homologous to the yeast Rrp40 protein (606489); p11, which is homologous to the yeast Mtr3 protein (606490); p12A, which is homologous to the yeast Rrp41 protein (606491); p12B, which is homologous to the yeast Rrp46 protein (606492); and p13, which is homologous to the yeast Csl4 protein (606493). They also identified 2 exosome-associated factors, p1 (SKIV2L) and p14 (MPP6; 605500), that were not homologous to any yeast exosome components. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Yang et al. (1998) determined that SKIV2L is a polymorphic gene that spans 11 kb and contains 28 exons. </p>
|
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</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Lee et al. (1995) isolated genomic clones and mapped the human homolog of SKI2 gene to 6p21 by fluorescence in situ hybridization. By genomic sequence analysis, Yang et al. (1998) determined that the SKIV2L gene is located 171 bp downstream from the RD gene. </p><p>Stumpf (2022) mapped the SKIC2 gene to chromosome 6p21.33 based on an alignment of the SKIC2 sequence (GenBank BC015758) with the genomic sequence (GRCh38).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using a cell-free RNA decay system, Chen et al. (2001) demonstrated that the mammalian exosome is required for rapid degradation of ARE-containing RNAs but not for poly(A) shortening. They found that the mammalian exosome does not recognize ARE-containing RNAs on its own. ARE recognition required certain ARE-binding proteins that could interact with the exosome and recruit it to unstable RNAs, thereby promoting their rapid degradation. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 6 unrelated patients with typical trichohepatoenteric syndrome (THES2; 614602) who were known to be negative for mutation in the TTC37 gene (614589), Fabre et al. (2012) sequenced the candidate gene SKIV2L and identified homozygosity or compound heterozygosity for 8 different mutations, respectively, in all patients (see, e.g., 600478.0001-600478.0003). All of the unaffected parents available for analysis were heterozygous for 1 of the mutations identified in their child. </p><p>In 5 sibs from 3 consanguineous Saudi families with THES who also exhibited cafe-au-lait spots below the waist, Monies et al. (2015) identified homozygosity for a 21-bp deletion in the SKIV2L gene (600478.0004) that was confirmed by Sanger sequencing and segregated with disease in each family. </p><p>In a 17-month-old Han Chinese boy with THES, Zheng et al. (2016) analyzed the SKIV2L gene and identified compound heterozygosity for a nonsense mutation (R374X; 600478.0005) and a missense mutation (G631S; 600478.0006), for which his unaffected parents were heterozygous. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 TRICHOHEPATOENTERIC SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SKIC2, TRP283TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs751026211,
|
|
|
|
|
|
gnomAD: rs751026211,
|
|
|
|
|
|
ClinVar: RCV000022972, RCV003390696, RCV003556070
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French patient with trichohepatoenteric syndrome (THES2; 614602), Fabre et al. (2012) identified compound heterozygosity for a c.848G-A transition (c.848G-A, NM_006929.4) in the SKIV2L (SKIC2) gene, resulting in a trp283-to-ter (W283X) substitution, and a c.1022T-G transversion, resulting in a val341-to-gly (V341G; 600478.0002) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 TRICHOHEPATOENTERIC SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SKIC2, VAL341GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1582171003,
|
|
|
|
|
|
|
|
ClinVar: RCV000022973, RCV000059689
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.1022T-G transversion (c.1022T-G, NM_006929.4) in the SKIV2L (SKIC2) gene, resulting in a val341-to-gly (V341G) substitution, that was found in compound heterozygous state in a patient with trichohepatoenteric syndrome (THES2; 614602) by Fabre et al. (2012), see 600478.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 TRICHOHEPATOENTERIC SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SKIC2, 1-BP INS, 1635A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1562659544,
|
|
|
|
|
|
|
|
ClinVar: RCV000022974, RCV001008816
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a North African patient with trichohepatoenteric syndrome-2 (THES2; 614602), Fabre et al. (2012) identified homozygosity for a 1-bp insertion (c.1635insA, NM_006929.4) in the SKIV2L (SKIC2) gene, causing a frameshift predicted to result in a premature termination codon (Gly546ArgfsTer35). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 TRICHOHEPATOENTERIC SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SKIC2, 21-BP DEL, NT3559
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1582192007,
|
|
|
|
|
|
|
|
ClinVar: RCV000985128, RCV001732004
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 sibs from 3 consanguineous Saudi families (families 1, 3, and 4) with THES who also exhibited cafe-au-lait spots below the waist (THES2; 614602), Monies et al. (2015) identified homozygosity for a 21-bp deletion (c.3559_3579del) in exon 28 of the SKIC2 gene, resulting in the in-frame deletion of 7 amino acids (p.1187_1193del) within the DOB1/SK12/helY-like DEAD box helicase C-terminal domain. Sanger sequencing confirmed the deletion and its segregation with disease in each family. Functional studies of the mutation were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 TRICHOHEPATOENTERIC SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SKIC2, ARG374TER ({dbSNP rs200818962})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs200818962,
|
|
|
|
|
|
gnomAD: rs200818962,
|
|
|
|
|
|
ClinVar: RCV000224429, RCV000778788, RCV004752805
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 17-month-old Han Chinese boy with trichohepatoenteric syndrome (THES2; 614602), Zheng et al. (2016) identified compound heterozygosity for a c.1120C-T transition (c.1120C-T, NM_600478) in the SKIC2 gene, resulting in an arg374-to-ter (R374X) substitution, and a c.1891G-A transition, resulting in a gly631-to-ser (G631X) substitution at a highly conserved residue. Functional studies of the mutations were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 TRICHOHEPATOENTERIC SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SKIC2, GLY631SER
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV002290870
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.1891G-A transition (c.1891G-A, NM_600478) in the SKIC2 gene, resulting in a gly631-to-ser (G631S) substitution, that was found in compound heterozygous state in a 17-month-old Han Chinese boy with trichohepatoenteric syndrome (THES2; 614602) by Zheng et al. (2016), see 600478.0005. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, C.-Y., Gherzi, R., Ong, S.-E., Chan, E. L., Raijmakers, R., Pruijn, G. J. M., Stoecklin, G., Moroni, C., Mann, M., Karin, M.
|
|
<strong>AU binding proteins recruit the exosome to degrade ARE-containing mRNAs.</strong>
|
|
Cell 107: 451-464, 2001.
|
|
|
|
|
|
[PubMed: 11719186]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0092-8674(01)00578-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dangel, A. W., Shen, L., Mendoza, A. R., Wu, L.-c., Yu, C. Y.
|
|
<strong>Human helicase gene SKI2W in the HLA class III region exhibits striking structural similarities to the yeast antiviral gene SKI2 and to the human gene KIAA0052: emergence of a new gene family.</strong>
|
|
Nucleic Acids Res. 23: 2120-2126, 1995.
|
|
|
|
|
|
[PubMed: 7610041]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/23.12.2120]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fabre, A., Charroux, B., Martinez-Vinson, C., Roquelaure, B., Odul, E., Sayar, E., Smith, H., Colomb, V., Andre, N., Hugot, J.-P., Goulet, O., Lacoste, C., Sarles, J., Royet, J., Levy, N., Badens, C.
|
|
<strong>SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.</strong>
|
|
Am. J. Hum. Genet. 90: 689-692, 2012.
|
|
|
|
|
|
[PubMed: 22444670]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2012.02.009]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, S.-G., Lee, I., Park, S. H., Kang, C., Song, K.
|
|
<strong>Identification and characterization of a human cDNA homologous to yeast SKI2.</strong>
|
|
Genomics 25: 660-666, 1995.
|
|
|
|
|
|
[PubMed: 7759100]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(95)80008-a]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
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Shen, L., Wu, L. C., Sanlioglu, S., Chen, R., Mendoza, A. R., Dangel, A. W., Carroll, M. C., Zipf, W. B., Yu, C. Y.
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<strong>Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region: molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication.</strong>
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 07/29/2022.
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Yang, Z., Shen, L., Dangel, A. W., Wu, L.-C., Yu, C. Y.
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<strong>Four ubiquitously expressed genes, RD (D6S45)-SKI2W (SKIV2L)-DOM3Z-RP1 (D6S60E), are present between complement component genes factor B and C4 in the class III region of the HLA.</strong>
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Genomics 53: 338-347, 1998.
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[PubMed: 9799600]
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Zheng, B., Pan, J., Jin, Y., Wang, C., Liu, Z.
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<strong>Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.</strong>
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[PubMed: 27431780]
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[Full Text: https://doi.org/10.3892/mmr.2016.5503]
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Marla J. F. O'Neill - updated : 10/10/2022<br>Marla J. F. O'Neill - updated : 4/27/2012<br>Stylianos E. Antonarakis - updated : 11/26/2001<br>Paul J. Converse - updated : 6/6/2001<br>Alan F. Scott - updated : 11/7/1995
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