2312 lines
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Entry
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- *602595 - GEM NUCLEAR ORGANELLE-ASSOCIATED PROTEIN 2; GEMIN2
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- OMIM
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<p>
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<span class="h4">*602595</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<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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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000092208;t=ENST00000308317" 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=8487" 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=602595" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000092208;t=ENST00000308317" 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_001009182,NM_001009183,NM_003616,XM_017021709,XM_047431807" 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_003616" 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=602595" 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=03999&isoform_id=03999_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/GEMIN2" 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/2570925,6094289,9650993,9650995,9650997,11182088,11182456,85397844,119586229,119586230,119586231,119586232,119586233,119586234,189054145,1863909943,1863909964,1863909967,2217298637,2217298639,2462541789,2462541791" 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/O14893" 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=8487" 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=ENSG00000092208;t=ENST00000308317" 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=GEMIN2" 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=GEMIN2" 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+8487" 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/GEMIN2" 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:8487" 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/8487" 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=chr14&hgg_gene=ENST00000308317.12&hgg_start=39114323&hgg_end=39136973&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="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=602595[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/ENSG00000092208" 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=GEMIN2" 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=GEMIN2" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GEMIN2&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/PA35784" 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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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-cell;">Animal Models</div>
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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:10884" 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/FBgn0036850.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:1913853" 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/GEMIN2#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:1913853" 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/8487/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=8487" 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=WBGene00004886;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-3756" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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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 style="display: table-cell;">Cellular Pathways</div>
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</a>
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<div><a href="https://reactome.org/content/query?q=GEMIN2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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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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602595
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</span>
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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GEM NUCLEAR ORGANELLE-ASSOCIATED PROTEIN 2; GEMIN2
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</h3>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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GEM-ASSOCIATED PROTEIN 2<br />
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SMN-INTERACTING PROTEIN 1; SIP1
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<br />
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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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=GEMIN2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GEMIN2</a></em></strong>
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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/14/189?start=-3&limit=10&highlight=189">14q21.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:39114323-39136973&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'})">14:39,114,323-39,136,973</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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<br />
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<a id="cloning" class="mim-anchor"></a>
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<p>The SMN gene (see SMN1; <a href="/entry/600354">600354</a>) is mutated or deleted in over 98% of patients with spinal muscular atrophy (see SMA; <a href="/entry/253300">253300</a>). SMN has been localized to a nuclear compartment called gems (gemini of coiled bodies). Using a yeast 2-hybrid system with SMN as bait, <a href="#7" class="mim-tip-reference" title="Liu, Q., Fischer, U., Wang, F., Dreyfuss, G. <strong>The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.</strong> Cell 90: 1013-1021, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9323129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9323129</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80367-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9323129">Liu et al. (1997)</a> identified a novel protein, SIP1 (SMN interacting protein-1). SIP1 is expressed as a 1.3-kb transcript that encodes a 279-amino acid protein with a calculated molecular mass of 32 kD. Xenopus SIP1 is 90% identical to human SIP1 at the amino acid level. In addition, human SIP1 has significant identity with S. cerevisiae Brr1, which has been shown to be involved in snRNP biogenesis (see <a href="/entry/601664">601664</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9323129" 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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<br />
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<a id="geneFunction" class="mim-anchor"></a>
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<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Gene Function</strong>
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<p><a href="#7" class="mim-tip-reference" title="Liu, Q., Fischer, U., Wang, F., Dreyfuss, G. <strong>The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.</strong> Cell 90: 1013-1021, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9323129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9323129</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80367-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9323129">Liu et al. (1997)</a> demonstrated that SMN and SIP1 interact tightly in vivo and in vitro and colocalize in gems in the nucleus as well as in the cytoplasm. Immunopurification of the 300-kD SMN-SIP1 complex showed that it contains, besides SMN and SIP1, spliceosomal snRNP core proteins. SMN interacted with several snRNP Sm core proteins and contains 2 distinct binding sites, one for SIP1 and one for the Sm proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9323129" 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>Studies in Xenopus oocytes by <a href="#2" class="mim-tip-reference" title="Fischer, U., Liu, Q., Dreyfuss, G. <strong>The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis.</strong> Cell 90: 1023-1029, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9323130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9323130</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80368-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9323130">Fischer et al. (1997)</a> demonstrated that the SMN-SIP1 complex is associated with spliceosomal snRNAs U1 (<a href="/entry/180680">180680</a>) and U5 (<a href="/entry/180691">180691</a>) in the cytoplasm. Antibodies directed against the SMN-SIP1 complex strongly interfered with the cytoplasmic assembly of the common (Sm) snRNP proteins with spliceosomal snRNAs and with the import of the snRNP complex into the nucleus. <a href="#2" class="mim-tip-reference" title="Fischer, U., Liu, Q., Dreyfuss, G. <strong>The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis.</strong> Cell 90: 1023-1029, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9323130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9323130</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80368-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9323130">Fischer et al. (1997)</a> concluded that the SMN-SIP1 complex is directly involved in the biogenesis of spliceosomal snRNPs. The authors suggested that defects in spliceosomal snRNP biogenesis are the cause of SMA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9323130" 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="#3" class="mim-tip-reference" title="Hannus, S., Buhler, D., Romano, M., Seraphin, B., Fischer, U. <strong>The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1.</strong> Hum. Molec. Genet. 9: 663-674, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10749973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10749973</a>] [<a href="https://doi.org/10.1093/hmg/9.5.663" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10749973">Hannus et al. (2000)</a> determined that the Schizosaccharomyces pombe protein Yab8p is structurally and functionally related to SMN found in higher eukaryotes. Yab8p interacts with a novel yeast protein termed Yip1p, which exhibits homology to SIP1. Yab8p interacts via its N terminus with Yip1p in a manner similar to SMN-SIP1 binding. In a conditional knockout yeast strain, suppression of Yab8 expression caused nuclear accumulation of poly(A) mRNA and inhibition of splicing. The authors concluded thatYab8p is a novel factor involved in splicing, and suggested that Yab8p exerts a function similar or identical to the nuclear pool of SMN, while Yip1p is the likely homolog of SIP1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10749973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Meister, G., Buhler, D., Laggerbauer, B., Zobawa, M., Lottspeich, F., Fischer, U. <strong>Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins.</strong> Hum. Molec. Genet. 9: 1977-1986, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942426</a>] [<a href="https://doi.org/10.1093/hmg/9.13.1977" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10942426">Meister et al. (2000)</a> showed that a monoclonal antibody directed against SMN inhibits pre-mRNA splicing. Using biochemical fractionation and anti-SMN immunoaffinity chromatography, they identified 2 distinct nuclear SMN complexes, termed NSC1 and NSC2. NSC1 is a U snRNA-free 20S complex containing at least 10 proteins, including SIP1, the putative helicase dp103/Gemin3, and the novel dp103/Gemin3-interacting protein GIP1/Gemin4. NSC1 also contains a specific subset of spliceosomal Sm proteins, suggesting that the SMN-Sm protein interaction is not restricted to the cytoplasm. The authors concluded that nuclear SMN affects splicing by modulating the Sm protein composition of U snRNPs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Young, P. J., Man, N., Lorson, C. L., Le, T. T., Androphy, E. J., Burghes, A. H. M., Morris, G. E. <strong>The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.</strong> Hum. Molec. Genet. 9: 2869-2877, 2000. Note: Erratum: Hum. Molec. Genet. 10: 88 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11092763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11092763</a>] [<a href="https://doi.org/10.1093/hmg/9.19.2869" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11092763">Young et al. (2000)</a> used biomolecular interaction analysis to demonstrate that SMN self-association occurs via regions encoded by exons 2b and 6, that exon 2b encodes a binding site for SIP1, and that an interaction also occurs between exon 2- and 4-encoded regions within the SMN monomer. Dimerization of SMN was not required for SIP1 binding. The authors presented a model wherein linear oligomers or closed rings might be formed from SMN monomers, which is thought to be a prerequisite for SMN to engage in RNA splicing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11092763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Jablonka, S., Bandilla, M., Wiese, S., Buhler, D., Wirth, B., Sendtner, M., Fischer, U. <strong>Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy.</strong> Hum. Molec. Genet. 10: 497-505, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11181573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11181573</a>] [<a href="https://doi.org/10.1093/hmg/10.5.497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11181573">Jablonka et al. (2001)</a> showed by confocal immunofluorescence studies that a significant amount of Smn does not colocalize with Sip1 in neurites of motor neurons, suggesting that Smn may exert motor neuron-specific functions that are not dependent on Sip1. Sip1 was highly expressed in spinal cord during early murine development, and expression decreased in parallel with Smn during postnatal development. Reduced production of Smn in cell lines derived from SMA patients or in a transgenic mouse model for SMA coincided with a simultaneous reduction of Sip1, suggesting to the authors that expression of Sip1 and Smn may be tightly coregulated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11181573" 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="#1" class="mim-tip-reference" title="Carissimi, C., Saieva, L., Gabanella, F., Pellizzoni, L. <strong>Gemin8 is required for the architecture and function of the survival motor neuron complex.</strong> J. Biol. Chem. 281: 37009-37016, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17023415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17023415</a>] [<a href="https://doi.org/10.1074/jbc.M607505200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17023415">Carissimi et al. (2006)</a> found that GEMIN6 (<a href="/entry/607006">607006</a>), GEMIN7 (<a href="/entry/607419">607419</a>), and UNRIP (STRAP; <a href="/entry/605986">605986</a>) associated in a stable cytoplasmic complex in the absence of the SMN complex. GEMIN8 (<a href="/entry/300962">300962</a>) bound directly to SMN and mediated interaction of GEMIN6-GEMIN7-UNRIP with SMN and GEMIN2. Knockdown of GEMIN8 abrogated interaction of GEMIN6-GEMIN7-UNRIP with the SMN complex, reduced the association of Sm proteins with the SMN complex, and impaired Sm core formation. <a href="#1" class="mim-tip-reference" title="Carissimi, C., Saieva, L., Gabanella, F., Pellizzoni, L. <strong>Gemin8 is required for the architecture and function of the survival motor neuron complex.</strong> J. Biol. Chem. 281: 37009-37016, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17023415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17023415</a>] [<a href="https://doi.org/10.1074/jbc.M607505200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17023415">Carissimi et al. (2006)</a> concluded that GEMIN6, GEMIN7, GEMIN8, and UNRIP are required for efficient association of Sm proteins with the SMN complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17023415" 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="#5" class="mim-tip-reference" title="Helmken, C., Wetter, A., Rudnik-Schoneborn, S., Liehr, T., Zerres, K., Wirth, B. <strong>An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).</strong> Europ. J. Hum. Genet. 8: 493-499, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10909848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10909848</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200479" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10909848">Helmken et al. (2000)</a> determined that the SIP1 gene contains 10 exons. They also identified 5 transcription isoforms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10909848" 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>Since both SMN1 and SIP1 belong to the same pathway and are part of the same protein complex, <a href="#5" class="mim-tip-reference" title="Helmken, C., Wetter, A., Rudnik-Schoneborn, S., Liehr, T., Zerres, K., Wirth, B. <strong>An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).</strong> Europ. J. Hum. Genet. 8: 493-499, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10909848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10909848</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200479" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10909848">Helmken et al. (2000)</a> questioned whether mutations within SIP1 are responsible for both the phenotypic variability and the appearance of non-SMN mutated SMA patients (about 4% of most SMA patient groups). By fluorescence in situ hybridization, they mapped the SIP1 gene to 14q13-q21. They noted that no SMA-related disorder had been assigned to that chromosome region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10909848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 9/29/2015."None>Hartz (2015)</a> mapped the GEMIN2 gene to chromosome 14q21.1 based on an alignment of the GEMIN2 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AB037701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AB037701</a>) with the genomic sequence (GRCh38).</p>
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<a href="#5" class="mim-tip-reference" title="Helmken, C., Wetter, A., Rudnik-Schoneborn, S., Liehr, T., Zerres, K., Wirth, B. <strong>An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).</strong> Europ. J. Hum. Genet. 8: 493-499, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10909848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10909848</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200479" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10909848">Helmken et al. (2000)</a> sequenced the entire coding region from 23 typical SMA patients who had failed to show any SMN1 mutation. No mutation or polymorphism was found within SIP1. Additionally, they sequenced the entire SIP1 coding region from 26 SMA sibs of 11 SMA families with identical genotypes at the SMN1 locus but different phenotypes, and again no mutation was found. Finally, no difference in expression level of the 5 isoforms among phenotypically variable sibs was observed. Based on these data, <a href="#5" class="mim-tip-reference" title="Helmken, C., Wetter, A., Rudnik-Schoneborn, S., Liehr, T., Zerres, K., Wirth, B. <strong>An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).</strong> Europ. J. Hum. Genet. 8: 493-499, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10909848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10909848</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200479" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10909848">Helmken et al. (2000)</a> suggested that neither the phenotypic variability nor the 5q-unlinked SMA is caused by mutations within SIP1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10909848" 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>Gemin8 is required for the architecture and function of the survival motor neuron complex.</strong>
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J. Biol. Chem. 281: 37009-37016, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17023415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17023415</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17023415" 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/10.1074/jbc.M607505200" target="_blank">Full Text</a>]
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Cell 90: 1023-1029, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9323130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9323130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9323130" 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(00)80368-2" target="_blank">Full Text</a>]
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<strong>The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1.</strong>
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Hum. Molec. Genet. 9: 663-674, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10749973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10749973</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10749973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Europ. J. Hum. Genet. 8: 493-499, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10909848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10909848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10909848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200479" target="_blank">Full Text</a>]
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<a id="Jablonka2001" class="mim-anchor"></a>
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<p class="mim-text-font">
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Jablonka, S., Bandilla, M., Wiese, S., Buhler, D., Wirth, B., Sendtner, M., Fischer, U.
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<strong>Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy.</strong>
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Hum. Molec. Genet. 10: 497-505, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11181573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11181573</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11181573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/10.5.497" target="_blank">Full Text</a>]
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<a id="Liu1997" class="mim-anchor"></a>
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Liu, Q., Fischer, U., Wang, F., Dreyfuss, G.
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<strong>The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.</strong>
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Cell 90: 1013-1021, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9323129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9323129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9323129" 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(00)80367-0" target="_blank">Full Text</a>]
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Meister, G., Buhler, D., Laggerbauer, B., Zobawa, M., Lottspeich, F., Fischer, U.
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<strong>Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins.</strong>
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Hum. Molec. Genet. 9: 1977-1986, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10942426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10942426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10942426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/9.13.1977" target="_blank">Full Text</a>]
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Young, P. J., Man, N., Lorson, C. L., Le, T. T., Androphy, E. J., Burghes, A. H. M., Morris, G. E.
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<strong>The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.</strong>
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Hum. Molec. Genet. 9: 2869-2877, 2000. Note: Erratum: Hum. Molec. Genet. 10: 88 only, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11092763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11092763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11092763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/9.19.2869" 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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<span class="mim-text-font">
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Patricia A. Hartz - updated : 09/29/2015
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<span class="mim-text-font">
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Stylianos E. Antonarakis - updated : 7/3/2001<br>Victor A. McKusick - updated : 3/15/2001<br>George E. Tiller - updated : 2/5/2001<br>George E. Tiller - updated : 10/26/2000<br>George E. Tiller - updated : 4/18/2000
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh : 5/5/1998
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carol : 02/26/2020
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carol : 09/22/2016<br>mgross : 09/29/2015<br>carol : 5/29/2015<br>terry : 7/6/2012<br>carol : 5/23/2002<br>mgross : 10/31/2001<br>mgross : 7/3/2001<br>cwells : 5/25/2001<br>cwells : 5/22/2001<br>mcapotos : 3/27/2001<br>mcapotos : 3/22/2001<br>terry : 3/15/2001<br>cwells : 2/5/2001<br>cwells : 1/30/2001<br>mcapotos : 11/1/2000<br>mcapotos : 10/26/2000<br>alopez : 4/18/2000<br>alopez : 10/16/1998<br>alopez : 5/5/1998
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<strong>*</strong> 602595
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GEM NUCLEAR ORGANELLE-ASSOCIATED PROTEIN 2; GEMIN2
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GEM-ASSOCIATED PROTEIN 2<br />
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SMN-INTERACTING PROTEIN 1; SIP1
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<strong><em>HGNC Approved Gene Symbol: GEMIN2</em></strong>
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Cytogenetic location: 14q21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:39,114,323-39,136,973 </span>
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<span class="small">(from NCBI)</span>
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>The SMN gene (see SMN1; 600354) is mutated or deleted in over 98% of patients with spinal muscular atrophy (see SMA; 253300). SMN has been localized to a nuclear compartment called gems (gemini of coiled bodies). Using a yeast 2-hybrid system with SMN as bait, Liu et al. (1997) identified a novel protein, SIP1 (SMN interacting protein-1). SIP1 is expressed as a 1.3-kb transcript that encodes a 279-amino acid protein with a calculated molecular mass of 32 kD. Xenopus SIP1 is 90% identical to human SIP1 at the amino acid level. In addition, human SIP1 has significant identity with S. cerevisiae Brr1, which has been shown to be involved in snRNP biogenesis (see 601664). </p>
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<strong>Gene Function</strong>
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<p>Liu et al. (1997) demonstrated that SMN and SIP1 interact tightly in vivo and in vitro and colocalize in gems in the nucleus as well as in the cytoplasm. Immunopurification of the 300-kD SMN-SIP1 complex showed that it contains, besides SMN and SIP1, spliceosomal snRNP core proteins. SMN interacted with several snRNP Sm core proteins and contains 2 distinct binding sites, one for SIP1 and one for the Sm proteins. </p><p>Studies in Xenopus oocytes by Fischer et al. (1997) demonstrated that the SMN-SIP1 complex is associated with spliceosomal snRNAs U1 (180680) and U5 (180691) in the cytoplasm. Antibodies directed against the SMN-SIP1 complex strongly interfered with the cytoplasmic assembly of the common (Sm) snRNP proteins with spliceosomal snRNAs and with the import of the snRNP complex into the nucleus. Fischer et al. (1997) concluded that the SMN-SIP1 complex is directly involved in the biogenesis of spliceosomal snRNPs. The authors suggested that defects in spliceosomal snRNP biogenesis are the cause of SMA. </p><p>Hannus et al. (2000) determined that the Schizosaccharomyces pombe protein Yab8p is structurally and functionally related to SMN found in higher eukaryotes. Yab8p interacts with a novel yeast protein termed Yip1p, which exhibits homology to SIP1. Yab8p interacts via its N terminus with Yip1p in a manner similar to SMN-SIP1 binding. In a conditional knockout yeast strain, suppression of Yab8 expression caused nuclear accumulation of poly(A) mRNA and inhibition of splicing. The authors concluded thatYab8p is a novel factor involved in splicing, and suggested that Yab8p exerts a function similar or identical to the nuclear pool of SMN, while Yip1p is the likely homolog of SIP1. </p><p>Meister et al. (2000) showed that a monoclonal antibody directed against SMN inhibits pre-mRNA splicing. Using biochemical fractionation and anti-SMN immunoaffinity chromatography, they identified 2 distinct nuclear SMN complexes, termed NSC1 and NSC2. NSC1 is a U snRNA-free 20S complex containing at least 10 proteins, including SIP1, the putative helicase dp103/Gemin3, and the novel dp103/Gemin3-interacting protein GIP1/Gemin4. NSC1 also contains a specific subset of spliceosomal Sm proteins, suggesting that the SMN-Sm protein interaction is not restricted to the cytoplasm. The authors concluded that nuclear SMN affects splicing by modulating the Sm protein composition of U snRNPs. </p><p>Young et al. (2000) used biomolecular interaction analysis to demonstrate that SMN self-association occurs via regions encoded by exons 2b and 6, that exon 2b encodes a binding site for SIP1, and that an interaction also occurs between exon 2- and 4-encoded regions within the SMN monomer. Dimerization of SMN was not required for SIP1 binding. The authors presented a model wherein linear oligomers or closed rings might be formed from SMN monomers, which is thought to be a prerequisite for SMN to engage in RNA splicing. </p><p>Jablonka et al. (2001) showed by confocal immunofluorescence studies that a significant amount of Smn does not colocalize with Sip1 in neurites of motor neurons, suggesting that Smn may exert motor neuron-specific functions that are not dependent on Sip1. Sip1 was highly expressed in spinal cord during early murine development, and expression decreased in parallel with Smn during postnatal development. Reduced production of Smn in cell lines derived from SMA patients or in a transgenic mouse model for SMA coincided with a simultaneous reduction of Sip1, suggesting to the authors that expression of Sip1 and Smn may be tightly coregulated. </p><p>Carissimi et al. (2006) found that GEMIN6 (607006), GEMIN7 (607419), and UNRIP (STRAP; 605986) associated in a stable cytoplasmic complex in the absence of the SMN complex. GEMIN8 (300962) bound directly to SMN and mediated interaction of GEMIN6-GEMIN7-UNRIP with SMN and GEMIN2. Knockdown of GEMIN8 abrogated interaction of GEMIN6-GEMIN7-UNRIP with the SMN complex, reduced the association of Sm proteins with the SMN complex, and impaired Sm core formation. Carissimi et al. (2006) concluded that GEMIN6, GEMIN7, GEMIN8, and UNRIP are required for efficient association of Sm proteins with the SMN complex. </p>
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<strong>Gene Structure</strong>
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<p>Helmken et al. (2000) determined that the SIP1 gene contains 10 exons. They also identified 5 transcription isoforms. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Since both SMN1 and SIP1 belong to the same pathway and are part of the same protein complex, Helmken et al. (2000) questioned whether mutations within SIP1 are responsible for both the phenotypic variability and the appearance of non-SMN mutated SMA patients (about 4% of most SMA patient groups). By fluorescence in situ hybridization, they mapped the SIP1 gene to 14q13-q21. They noted that no SMA-related disorder had been assigned to that chromosome region. </p><p>Hartz (2015) mapped the GEMIN2 gene to chromosome 14q21.1 based on an alignment of the GEMIN2 sequence (GenBank AB037701) with the genomic sequence (GRCh38).</p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Exclusion Studies</em></strong></p><p>
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Helmken et al. (2000) sequenced the entire coding region from 23 typical SMA patients who had failed to show any SMN1 mutation. No mutation or polymorphism was found within SIP1. Additionally, they sequenced the entire SIP1 coding region from 26 SMA sibs of 11 SMA families with identical genotypes at the SMN1 locus but different phenotypes, and again no mutation was found. Finally, no difference in expression level of the 5 isoforms among phenotypically variable sibs was observed. Based on these data, Helmken et al. (2000) suggested that neither the phenotypic variability nor the 5q-unlinked SMA is caused by mutations within SIP1. </p>
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<strong>REFERENCES</strong>
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Carissimi, C., Saieva, L., Gabanella, F., Pellizzoni, L.
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<strong>Gemin8 is required for the architecture and function of the survival motor neuron complex.</strong>
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J. Biol. Chem. 281: 37009-37016, 2006.
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[PubMed: 17023415]
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[Full Text: https://doi.org/10.1074/jbc.M607505200]
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<li>
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<p class="mim-text-font">
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Fischer, U., Liu, Q., Dreyfuss, G.
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<strong>The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis.</strong>
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Cell 90: 1023-1029, 1997.
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[PubMed: 9323130]
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[Full Text: https://doi.org/10.1016/s0092-8674(00)80368-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hannus, S., Buhler, D., Romano, M., Seraphin, B., Fischer, U.
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<strong>The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1.</strong>
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Hum. Molec. Genet. 9: 663-674, 2000.
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[PubMed: 10749973]
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[Full Text: https://doi.org/10.1093/hmg/9.5.663]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 9/29/2015.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Helmken, C., Wetter, A., Rudnik-Schoneborn, S., Liehr, T., Zerres, K., Wirth, B.
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<strong>An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).</strong>
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Europ. J. Hum. Genet. 8: 493-499, 2000.
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[PubMed: 10909848]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200479]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jablonka, S., Bandilla, M., Wiese, S., Buhler, D., Wirth, B., Sendtner, M., Fischer, U.
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<strong>Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy.</strong>
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Hum. Molec. Genet. 10: 497-505, 2001.
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[PubMed: 11181573]
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[Full Text: https://doi.org/10.1093/hmg/10.5.497]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Liu, Q., Fischer, U., Wang, F., Dreyfuss, G.
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<strong>The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.</strong>
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Cell 90: 1013-1021, 1997.
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[PubMed: 9323129]
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[Full Text: https://doi.org/10.1016/s0092-8674(00)80367-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Meister, G., Buhler, D., Laggerbauer, B., Zobawa, M., Lottspeich, F., Fischer, U.
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<strong>Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins.</strong>
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Hum. Molec. Genet. 9: 1977-1986, 2000.
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[PubMed: 10942426]
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[Full Text: https://doi.org/10.1093/hmg/9.13.1977]
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</p>
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</li>
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<li>
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Young, P. J., Man, N., Lorson, C. L., Le, T. T., Androphy, E. J., Burghes, A. H. M., Morris, G. E.
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<strong>The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.</strong>
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Hum. Molec. Genet. 9: 2869-2877, 2000. Note: Erratum: Hum. Molec. Genet. 10: 88 only, 2001.
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[PubMed: 11092763]
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[Full Text: https://doi.org/10.1093/hmg/9.19.2869]
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Patricia A. Hartz - updated : 09/29/2015<br>Stylianos E. Antonarakis - updated : 7/3/2001<br>Victor A. McKusick - updated : 3/15/2001<br>George E. Tiller - updated : 2/5/2001<br>George E. Tiller - updated : 10/26/2000<br>George E. Tiller - updated : 4/18/2000
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