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- *610192 - GLIS FAMILY ZINC FINGER PROTEIN 3; GLIS3
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*610192</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/610192">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000107249;t=ENST00000381971" 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=169792" 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=610192" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000107249;t=ENST00000381971" 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_001042413,NM_152629,XM_005251386,XM_011517763,XM_011517764,XM_011517766,XM_017014361,XM_047422889,XM_047422890,XM_047422891,XM_047422892,XM_047422893,XR_007061257" 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_001042413" 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=610192" 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=13582&isoform_id=13582_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/GLIS3" 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/21104506,34190668,62088388,91978923,91978925,91978927,91978929,91978936,91978938,91978940,91978942,91978944,91978946,91978948,91978950,91978952,91978954,91978956,91978958,91978960,91978962,91978964,91978966,91978968,91978970,91978972,91978974,91978977,109637782,109637784,322510143,530389742,767954598,767954600,767954605,957951877,957951880,957951883,1034664076,2217375860,2217375862,2217375867,2217375870,2217375872,2462623123,2462623125,2462623127,2462623129,2462623131,2462623133,2462623135,2462623137" 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/Q8NEA6" 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=169792" 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=ENSG00000107249;t=ENST00000381971" 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=GLIS3" 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=GLIS3" 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+169792" 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/GLIS3" 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:169792" 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/169792" 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=chr9&hgg_gene=ENST00000818379.1&hgg_start=3824127&hgg_end=4490465&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/gene-dosage/HGNC:28510" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610192[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=610192[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/GLIS3/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000107249" 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=GLIS3" 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=GLIS3" 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=GLIS3" 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=GLIS3&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/PA134878768" 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:28510" 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/FBgn0039039.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:2444289" 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/GLIS3#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:2444289" 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/169792/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=169792" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070112-2232" 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://reactome.org/content/query?q=GLIS3&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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610192
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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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GLIS FAMILY ZINC FINGER PROTEIN 3; GLIS3
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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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GLI-SIMILAR PROTEIN 3<br />
|
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ZINC FINGER PROTEIN 515; ZNF515
|
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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=GLIS3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GLIS3</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/9/19?start=-3&limit=10&highlight=19">9p24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:3824127-4490465&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'})">9:3,824,127-4,490,465</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">
|
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<span class="mim-font">
|
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<a href="/geneMap/9/19?start=-3&limit=10&highlight=19">
|
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9p24.2
|
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</a>
|
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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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Diabetes mellitus, neonatal, with congenital hypothyroidism
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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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|
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<a href="/entry/610199"> 610199 </a>
|
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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="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>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/610192" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/610192" 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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<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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<p>GLIS3 belongs to the GLIS subfamily of Kruppel-like zinc finger proteins and functions as an activator and repressor of transcription (<a href="#5" class="mim-tip-reference" title="Kim, Y.-S., Nakanishi, G., Lewandoski, M., Jetten, A. M. <strong>GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions.</strong> Nucleic Acids Res. 31: 5513-5525, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14500813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14500813</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14500813[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/gkg776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14500813">Kim et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14500813" 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 searching databases for homologs of GLIS1, <a href="#5" class="mim-tip-reference" title="Kim, Y.-S., Nakanishi, G., Lewandoski, M., Jetten, A. M. <strong>GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions.</strong> Nucleic Acids Res. 31: 5513-5525, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14500813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14500813</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14500813[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/gkg776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14500813">Kim et al. (2003)</a> identified mouse and human GLIS3. The deduced 774-amino acid human protein, which shares 86.2% identity with the mouse protein, contains 5 C2H2 zinc finger domains, interfinger Kruppel-like sequences, 2 proline-rich regions, and a bipartite nuclear localization signal. The zinc finger domain of GLIS3 shares 93% and 59% identity with those of GLIS1 and GLIS2 (<a href="/entry/608539">608539</a>), respectively, and approximately 70% identity with those of GLI proteins (e.g., GLI1; <a href="/entry/165220">165220</a>). Northern blot analysis detected a 9-kb transcript that was most abundant in kidney, with lower levels in most other human tissues examined. Whole-mount in situ hybridization of mouse embryos detected expression of Glis3 at embryonic day 8.0 at the early headfold stage, and expression remained in neural tissue through embryonic day 12.5. At embryonic day 14.5, expression was detected in lung, trachea, kidney, and genitalia. Glis3 was strongly expressed in the interdigital regions from embryonic day 11.5 to 12.5. Confocal microscopy in several cell lines demonstrated punctate nuclear expression of GLIS3 that was dependent on the region of GLIS3 containing the nuclear localization signal and fifth zinc finger motif. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14500813" 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="Beak, J. Y., Kang, H. S., Kim, Y.-S., Jetten, A. M. <strong>Functional analysis of the zinc finger and activation domains of Glis3 and mutant Glis3(NDH1).</strong> Nucleic Acids Res. 36: 1690-1702, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18263616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18263616</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18263616[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/gkn009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18263616">Beak et al. (2008)</a> cloned a splice variant of mouse Glis3. The deduced 935-amino acid protein has an N-terminal extension compared with the human and mouse GLIS3 proteins reported by <a href="#5" class="mim-tip-reference" title="Kim, Y.-S., Nakanishi, G., Lewandoski, M., Jetten, A. M. <strong>GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions.</strong> Nucleic Acids Res. 31: 5513-5525, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14500813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14500813</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14500813[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/gkg776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14500813">Kim et al. (2003)</a>. Full-length Glis3 localized to nuclei in several different cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18263616+14500813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using immunofluorescence microscopy, <a href="#4" class="mim-tip-reference" title="Kang, H. S., Beak, J. Y., Kim, Y.-S., Herbert, R., Jetten, A. M. <strong>Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.</strong> Molec. Cell. Biol. 29: 2556-2569, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19273592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19273592</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19273592[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.01620-08" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19273592">Kang et al. (2009)</a> showed that mouse Glis3 localized to nuclei and primary cilia of mouse renal tubule epithelial cells and cultured mouse renal proximal tubule cells. In several instances, Glis3 appeared to localize preferentially to the tip of the primary cilium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19273592" 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="Kim, Y.-S., Nakanishi, G., Lewandoski, M., Jetten, A. M. <strong>GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions.</strong> Nucleic Acids Res. 31: 5513-5525, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14500813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14500813</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14500813[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/gkg776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14500813">Kim et al. (2003)</a> determined that the GLIS3 gene spans more than 300 kb and contains 9 exons. Exons 2 through 4 encode the zinc finger domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14500813" 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="#5" class="mim-tip-reference" title="Kim, Y.-S., Nakanishi, G., Lewandoski, M., Jetten, A. M. <strong>GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions.</strong> Nucleic Acids Res. 31: 5513-5525, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14500813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14500813</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14500813[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/gkg776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14500813">Kim et al. (2003)</a> mapped the GLIS3 gene to chromosome 9p24.3-p23. They mapped the mouse gene to chromosome 19C1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14500813" 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>Using monohybrid analysis, <a href="#5" class="mim-tip-reference" title="Kim, Y.-S., Nakanishi, G., Lewandoski, M., Jetten, A. M. <strong>GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions.</strong> Nucleic Acids Res. 31: 5513-5525, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14500813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14500813</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14500813[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/gkg776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14500813">Kim et al. (2003)</a> found that GLIS3 could function as an activator and repressor of transcription. Deletion analysis showed that both the N and C termini were important for GLIS3 transactivation function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14500813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By mutation analysis of mouse Glis3, <a href="#1" class="mim-tip-reference" title="Beak, J. Y., Kang, H. S., Kim, Y.-S., Jetten, A. M. <strong>Functional analysis of the zinc finger and activation domains of Glis3 and mutant Glis3(NDH1).</strong> Nucleic Acids Res. 36: 1690-1702, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18263616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18263616</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18263616[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/gkn009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18263616">Beak et al. (2008)</a> found that zinc finger-4, rather than the putative bipartite nuclear localization sequence, was critical for Glis3 nuclear localization. They also showed that the C terminus of Glis3 contained the transcription transactivation domain. PCR/EMSA-based site selection indicated that the consensus Glis3-binding sequence is (G/C)TGGGGGGT(A/C). Mutation of the first cysteine in any of the C2H2-type zinc finger motifs of Glis3 abolished the tetrahedral configuration of the mutated zinc finger and eliminated binding of Glis3 to the consensus Glis3-binding sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18263616" 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="Kang, H. S., Beak, J. Y., Kim, Y.-S., Herbert, R., Jetten, A. M. <strong>Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.</strong> Molec. Cell. Biol. 29: 2556-2569, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19273592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19273592</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19273592[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.01620-08" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19273592">Kang et al. (2009)</a> identified mouse Wwtr1 (<a href="/entry/607392">607392</a>) as a critical coactivator of Glis3 transactivation activity. Coimmunoprecipitation, mammalian 2-hybrid, and protein pull-down assays showed that the 2 proteins interacted directly. The WW domain of Wwtr1 recognizes a P/LPxY motif, and <a href="#4" class="mim-tip-reference" title="Kang, H. S., Beak, J. Y., Kim, Y.-S., Herbert, R., Jetten, A. M. <strong>Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.</strong> Molec. Cell. Biol. 29: 2556-2569, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19273592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19273592</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19273592[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.01620-08" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19273592">Kang et al. (2009)</a> identified 4 putative P/LPxY motifs in the Glis3 protein. Deletion and mutation analysis revealed that only the C-terminal motif (PPHY) of Glis3 was functional, and an intact PPHY motif was required for Glis3 transcriptional activation. The interaction between Glis3 and Wwtr1 resulted in redistribution of Wwtr1 from the cytosol to the nucleus of cotransfected COS-1 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19273592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Taha, D., Barbar, M., Kanaan, H., Williamson Balfe, J. <strong>Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?</strong> Am. J. Med. Genet. 122A: 269-273, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966531</a>] [<a href="https://doi.org/10.1002/ajmg.a.20267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12966531">Taha et al. (2003)</a> described a consanguineous Saudi Arabian family in which 2 of 4 sibs had permanent neonatal diabetes associated with intrauterine growth retardation, congenital hypothyroidism, facial anomalies, congenital glaucoma, hepatic fibrosis, and polycystic kidneys (NDH syndrome; <a href="/entry/610199">610199</a>). <a href="#6" class="mim-tip-reference" title="Senee, V., Chelala, C., Duchatelet, S., Feng, D., Blanc, H., Cossec, J.-C., Charon, C., Nicolino, M., Boileau, P., Cavener, D. R., Bougneres, P., Taha, D., Julier, C. <strong>Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.</strong> Nature Genet. 38: 682-687, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16715098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16715098</a>] [<a href="https://doi.org/10.1038/ng1802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16715098">Senee et al. (2006)</a> studied this family and 2 other consanguineous families with NDH syndrome. They performed a genomewide linkage scan in the original Saudi Arabian family and mapped the phenotype to 9p. In the second and third families they identified 2 distinct deletions. The affected individual in the second family carried a homozygous 426-kb deletion, which encompassed the gene encoding SLC1A1 (<a href="/entry/133550">133550</a>) and part of the 5-prime untranslated region (UTR) of the GLIS3 gene. Affected individuals in the third family carried a homozygous 149-kb deletion that overlapped only a portion of the 5-prime UTR of GLIS3. The region common to both deletions mapped 134 kb 5-prime to the known start codon of GLIS3. In the original Saudi Arabian family a homozygous insertion, 2067insC (<a href="#0001">610192.0001</a>), leading to a frameshift and a truncated protein, was found, altering the C-terminal proline-rich domain. No mutation in the SLC1A1 gene was found in the original family, referred to as NDH1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16715098+12966531" 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 Bangladeshi girl and Welsh boy with neonatal diabetes and hepatitis and congenital hypothyroidism, <a href="#3" class="mim-tip-reference" title="Dimitri, P., Warner, J. T., Minton, J. A. L., Patch, A. M., Ellard, S., Hattersley, A. T., Barr, S., Hawkes, D., Wales, J. K., Gregory, J. W. <strong>Novel GLIS3 mutations demonstrate an extended multisystem phenotype.</strong> Europ. J. Endocr. 164: 437-443, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21139041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21139041</a>] [<a href="https://doi.org/10.1530/EJE-10-0893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21139041">Dimitri et al. (2011)</a> identified homozygosity for a 412-kb deletion involving exons 1-2 of the GLIS3 gene in the girl (chr9:4,182,610-4,594,192, NCBI36/hg18) and a 482-kb deletion involving GLIS3 exons 1-4 in the boy (chr9:4,092,663-4,575,167, NCBI36/hg18). Their parents were each heterozygous for the respective deletion. Both deletions encompassed the SLC1A1 gene; the authors noted that deletion of the SLC1A1 gene does not result in any detectable pathologic consequences in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21139041" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Dimitri, P., Habeb, A. M., Gurbuz, F., Millward, A., Wallis, S., Moussa, K., Akcay, T., Taha, D., Hogue, J., Slavotinek, A., Wales, J. K. H., Shetty, A., Hawkes, D., Hattersley, A. T., Ellard, S., De Franco, E. <strong>Expanding the clinical spectrum associated with GLIS3 mutations.</strong> J. Clin. Endocr. Metab. 100: E1362-E1369, 2015. Note: Electronic Article. Erratum: J. Clin. Endocr. Metab. 100: 4685 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26259131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26259131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26259131[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/jc.2015-1827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26259131">Dimitri et al. (2015)</a> sequenced the GLIS3 gene in 10 unrelated patients with NDH and identified homozygosity for multiexon deletions in most patients, but also detected homozygosity for missense mutations in 2 patients (C536W, <a href="#0002">610192.0002</a>; H561Y, <a href="#0003">610192.0003</a>) and homozygosity for a 1-bp deletion in 1 patient (<a href="#0004">610192.0004</a>). 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<p><a href="#4" class="mim-tip-reference" title="Kang, H. S., Beak, J. Y., Kim, Y.-S., Herbert, R., Jetten, A. M. <strong>Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.</strong> Molec. Cell. Biol. 29: 2556-2569, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19273592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19273592</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19273592[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.01620-08" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19273592">Kang et al. (2009)</a> developed a line of mice expressing mutant Glis3 in which the critical zinc finger-5 was deleted. They found that homozygous mutant (Glis3 zf/zf) embryos, but not Glis3 zf/+ embryos, developed polycystic kidneys by embryonic day 15.5, and that the cysts enlarged with age. Glis3 zf/zf mice also showed dilated pancreatic tubules and developed neonatal diabetes due to insufficient pancreatic beta cells. Glis3 dysfunction did not prevent formation of the primary cilium, but many cells in renal cysts lacked a primary cilium. Glis3 zf/zf renal tubule epithelial cells and Glis3-knockdown tubule cells showed increased proliferation and altered localization of cell-cell junction proteins. Expression profiling showed that expression of Dctn5 (<a href="/entry/612962">612962</a>) and Pkd1 (<a href="/entry/601313">601313</a>) was downregulated in Glis3 zf/zf and Glis3-knockdown cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19273592" 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 a consanguineous Saudi Arabian family with children affected with neonatal diabetes mellitus and congenital hypothyroidism (NDH; <a href="/entry/610199">610199</a>), reported by <a href="#7" class="mim-tip-reference" title="Taha, D., Barbar, M., Kanaan, H., Williamson Balfe, J. <strong>Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?</strong> Am. J. Med. Genet. 122A: 269-273, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966531</a>] [<a href="https://doi.org/10.1002/ajmg.a.20267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12966531">Taha et al. (2003)</a>, <a href="#6" class="mim-tip-reference" title="Senee, V., Chelala, C., Duchatelet, S., Feng, D., Blanc, H., Cossec, J.-C., Charon, C., Nicolino, M., Boileau, P., Cavener, D. R., Bougneres, P., Taha, D., Julier, C. <strong>Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.</strong> Nature Genet. 38: 682-687, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16715098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16715098</a>] [<a href="https://doi.org/10.1038/ng1802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16715098">Senee et al. (2006)</a> described a homozygous 1-bp insertion, 2067insC, in the GLIS3 gene, predicted to lead to a frameshift and a truncated protein (625fs703Ter), altering the C-terminal proline-rich domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16715098+12966531" 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 a 6.8-year-old Arab boy (patient 5) with neonatal diabetes mellitus and congenital hypothyroidism (NDH; <a href="/entry/610199">610199</a>), <a href="#2" class="mim-tip-reference" title="Dimitri, P., Habeb, A. M., Gurbuz, F., Millward, A., Wallis, S., Moussa, K., Akcay, T., Taha, D., Hogue, J., Slavotinek, A., Wales, J. K. H., Shetty, A., Hawkes, D., Hattersley, A. T., Ellard, S., De Franco, E. <strong>Expanding the clinical spectrum associated with GLIS3 mutations.</strong> J. Clin. Endocr. Metab. 100: E1362-E1369, 2015. Note: Electronic Article. Erratum: J. Clin. Endocr. Metab. 100: 4685 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26259131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26259131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26259131[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/jc.2015-1827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26259131">Dimitri et al. (2015)</a> identified homozygosity for a c.1608C-G transversion (c.1608C-G, NM_001042413) in exon 4 of the GLIS3 gene, resulting in a cys536-to-trp (C536W) substitution at a highly conserved residue within the DNA binding domain. The patient did not have hepatic, renal, or exocrine pancreatic disease, and did not exhibit facial dysmorphism. However, he showed developmental delay and also was reported to have skeletal abnormalities with prominent right sixth and seventh ribs, but normal bone biochemistry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26259131" 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 a 4.5-year-old Kurdish boy (patient 10) with neonatal diabetes mellitus and congenital hypothyroidism (NDH; <a href="/entry/610199">610199</a>), <a href="#2" class="mim-tip-reference" title="Dimitri, P., Habeb, A. M., Gurbuz, F., Millward, A., Wallis, S., Moussa, K., Akcay, T., Taha, D., Hogue, J., Slavotinek, A., Wales, J. K. H., Shetty, A., Hawkes, D., Hattersley, A. T., Ellard, S., De Franco, E. <strong>Expanding the clinical spectrum associated with GLIS3 mutations.</strong> J. Clin. Endocr. Metab. 100: E1362-E1369, 2015. Note: Electronic Article. Erratum: J. Clin. Endocr. Metab. 100: 4685 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26259131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26259131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26259131[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/jc.2015-1827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26259131">Dimitri et al. (2015)</a> identified homozygosity for a c.1681C-T transition (c.1681C-T, NM_001042413) in exon 4 of the GLIS3 gene, resulting in a his561-to-tyr (H561Y) substitution at a highly conserved residue within the DNA binding domain. Other features in this patient included facial dysmorphism, congenital glaucoma, hepatic fibrosis, patent ductus arteriosus, and an isolated renal cyst. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26259131" 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 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM</strong>
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GLIS3, 1-BP DEL, 932G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255609 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255609;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=rs879255609" 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=rs879255609" 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=RCV000239491" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239491" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239491</a>
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<p>In a 2.5-year-old Pakistani girl (patient 8) with neonatal diabetes mellitus and congenital hypothyroidism (NDH; <a href="/entry/610199">610199</a>), <a href="#2" class="mim-tip-reference" title="Dimitri, P., Habeb, A. M., Gurbuz, F., Millward, A., Wallis, S., Moussa, K., Akcay, T., Taha, D., Hogue, J., Slavotinek, A., Wales, J. K. H., Shetty, A., Hawkes, D., Hattersley, A. T., Ellard, S., De Franco, E. <strong>Expanding the clinical spectrum associated with GLIS3 mutations.</strong> J. Clin. Endocr. Metab. 100: E1362-E1369, 2015. Note: Electronic Article. Erratum: J. Clin. Endocr. Metab. 100: 4685 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26259131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26259131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26259131[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1210/jc.2015-1827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26259131">Dimitri et al. (2015)</a> identified homozygosity for a 1-bp deletion (c.932delG, NM_001042413) in exon 4 of the GLIS3 gene, causing a frameshift (Gly311Alafs) within the DNA binding domain. Other features in this patient included renal cystic dysplasia and osteopenia, as well as unilateral sensorineural deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26259131" 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>REFERENCES</strong>
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Beak, J. Y., Kang, H. S., Kim, Y.-S., Jetten, A. M.
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<strong>Functional analysis of the zinc finger and activation domains of Glis3 and mutant Glis3(NDH1).</strong>
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Nucleic Acids Res. 36: 1690-1702, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18263616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18263616</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18263616[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18263616" 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/gkn009" target="_blank">Full Text</a>]
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Dimitri, P., Habeb, A. M., Gurbuz, F., Millward, A., Wallis, S., Moussa, K., Akcay, T., Taha, D., Hogue, J., Slavotinek, A., Wales, J. K. H., Shetty, A., Hawkes, D., Hattersley, A. T., Ellard, S., De Franco, E.
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<strong>Expanding the clinical spectrum associated with GLIS3 mutations.</strong>
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J. Clin. Endocr. Metab. 100: E1362-E1369, 2015. Note: Electronic Article. Erratum: J. Clin. Endocr. Metab. 100: 4685 only, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26259131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26259131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26259131[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26259131" 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/10.1210/jc.2015-1827" target="_blank">Full Text</a>]
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Dimitri, P., Warner, J. T., Minton, J. A. L., Patch, A. M., Ellard, S., Hattersley, A. T., Barr, S., Hawkes, D., Wales, J. K., Gregory, J. W.
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<strong>Novel GLIS3 mutations demonstrate an extended multisystem phenotype.</strong>
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Europ. J. Endocr. 164: 437-443, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21139041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21139041</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21139041" 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/10.1530/EJE-10-0893" target="_blank">Full Text</a>]
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Kang, H. S., Beak, J. Y., Kim, Y.-S., Herbert, R., Jetten, A. M.
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<strong>Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.</strong>
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Molec. Cell. Biol. 29: 2556-2569, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19273592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19273592</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19273592[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19273592" 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/10.1128/MCB.01620-08" target="_blank">Full Text</a>]
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Kim, Y.-S., Nakanishi, G., Lewandoski, M., Jetten, A. M.
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<strong>GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions.</strong>
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Nucleic Acids Res. 31: 5513-5525, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14500813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14500813</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14500813[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14500813" 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/gkg776" target="_blank">Full Text</a>]
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Senee, V., Chelala, C., Duchatelet, S., Feng, D., Blanc, H., Cossec, J.-C., Charon, C., Nicolino, M., Boileau, P., Cavener, D. R., Bougneres, P., Taha, D., Julier, C.
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<strong>Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.</strong>
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Nature Genet. 38: 682-687, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16715098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16715098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16715098" 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/ng1802" target="_blank">Full Text</a>]
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Taha, D., Barbar, M., Kanaan, H., Williamson Balfe, J.
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<strong>Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?</strong>
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Am. J. Med. Genet. 122A: 269-273, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marla J. F. O'Neill - updated : 05/12/2016
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Patricia A. Hartz - updated : 8/25/2011<br>Victor A. McKusick - updated : 6/20/2006
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alopez : 08/11/2016<br>alopez : 05/12/2016<br>carol : 3/28/2016<br>mgross : 10/19/2011<br>mgross : 10/19/2011<br>terry : 8/25/2011<br>joanna : 12/4/2006<br>alopez : 6/21/2006<br>terry : 6/20/2006<br>mgross : 6/15/2006
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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GLIS FAMILY ZINC FINGER PROTEIN 3; GLIS3
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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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<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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GLI-SIMILAR PROTEIN 3<br />
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ZINC FINGER PROTEIN 515; ZNF515
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GLIS3</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 9p24.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:3,824,127-4,490,465 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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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">
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<span class="mim-font">
|
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9p24.2
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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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Diabetes mellitus, neonatal, with congenital hypothyroidism
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
610199
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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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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
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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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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>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>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>GLIS3 belongs to the GLIS subfamily of Kruppel-like zinc finger proteins and functions as an activator and repressor of transcription (Kim et al., 2003). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<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">
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<p>By searching databases for homologs of GLIS1, Kim et al. (2003) identified mouse and human GLIS3. The deduced 774-amino acid human protein, which shares 86.2% identity with the mouse protein, contains 5 C2H2 zinc finger domains, interfinger Kruppel-like sequences, 2 proline-rich regions, and a bipartite nuclear localization signal. The zinc finger domain of GLIS3 shares 93% and 59% identity with those of GLIS1 and GLIS2 (608539), respectively, and approximately 70% identity with those of GLI proteins (e.g., GLI1; 165220). Northern blot analysis detected a 9-kb transcript that was most abundant in kidney, with lower levels in most other human tissues examined. Whole-mount in situ hybridization of mouse embryos detected expression of Glis3 at embryonic day 8.0 at the early headfold stage, and expression remained in neural tissue through embryonic day 12.5. At embryonic day 14.5, expression was detected in lung, trachea, kidney, and genitalia. Glis3 was strongly expressed in the interdigital regions from embryonic day 11.5 to 12.5. Confocal microscopy in several cell lines demonstrated punctate nuclear expression of GLIS3 that was dependent on the region of GLIS3 containing the nuclear localization signal and fifth zinc finger motif. </p><p>Beak et al. (2008) cloned a splice variant of mouse Glis3. The deduced 935-amino acid protein has an N-terminal extension compared with the human and mouse GLIS3 proteins reported by Kim et al. (2003). Full-length Glis3 localized to nuclei in several different cell lines. </p><p>Using immunofluorescence microscopy, Kang et al. (2009) showed that mouse Glis3 localized to nuclei and primary cilia of mouse renal tubule epithelial cells and cultured mouse renal proximal tubule cells. In several instances, Glis3 appeared to localize preferentially to the tip of the primary cilium. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>Kim et al. (2003) determined that the GLIS3 gene spans more than 300 kb and contains 9 exons. Exons 2 through 4 encode the zinc finger domain. </p>
|
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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|
|
<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Kim et al. (2003) mapped the GLIS3 gene to chromosome 9p24.3-p23. They mapped the mouse gene to chromosome 19C1. </p>
|
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Using monohybrid analysis, Kim et al. (2003) found that GLIS3 could function as an activator and repressor of transcription. Deletion analysis showed that both the N and C termini were important for GLIS3 transactivation function. </p><p>By mutation analysis of mouse Glis3, Beak et al. (2008) found that zinc finger-4, rather than the putative bipartite nuclear localization sequence, was critical for Glis3 nuclear localization. They also showed that the C terminus of Glis3 contained the transcription transactivation domain. PCR/EMSA-based site selection indicated that the consensus Glis3-binding sequence is (G/C)TGGGGGGT(A/C). Mutation of the first cysteine in any of the C2H2-type zinc finger motifs of Glis3 abolished the tetrahedral configuration of the mutated zinc finger and eliminated binding of Glis3 to the consensus Glis3-binding sequence. </p><p>Kang et al. (2009) identified mouse Wwtr1 (607392) as a critical coactivator of Glis3 transactivation activity. Coimmunoprecipitation, mammalian 2-hybrid, and protein pull-down assays showed that the 2 proteins interacted directly. The WW domain of Wwtr1 recognizes a P/LPxY motif, and Kang et al. (2009) identified 4 putative P/LPxY motifs in the Glis3 protein. Deletion and mutation analysis revealed that only the C-terminal motif (PPHY) of Glis3 was functional, and an intact PPHY motif was required for Glis3 transcriptional activation. The interaction between Glis3 and Wwtr1 resulted in redistribution of Wwtr1 from the cytosol to the nucleus of cotransfected COS-1 cells. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Taha et al. (2003) described a consanguineous Saudi Arabian family in which 2 of 4 sibs had permanent neonatal diabetes associated with intrauterine growth retardation, congenital hypothyroidism, facial anomalies, congenital glaucoma, hepatic fibrosis, and polycystic kidneys (NDH syndrome; 610199). Senee et al. (2006) studied this family and 2 other consanguineous families with NDH syndrome. They performed a genomewide linkage scan in the original Saudi Arabian family and mapped the phenotype to 9p. In the second and third families they identified 2 distinct deletions. The affected individual in the second family carried a homozygous 426-kb deletion, which encompassed the gene encoding SLC1A1 (133550) and part of the 5-prime untranslated region (UTR) of the GLIS3 gene. Affected individuals in the third family carried a homozygous 149-kb deletion that overlapped only a portion of the 5-prime UTR of GLIS3. The region common to both deletions mapped 134 kb 5-prime to the known start codon of GLIS3. In the original Saudi Arabian family a homozygous insertion, 2067insC (610192.0001), leading to a frameshift and a truncated protein, was found, altering the C-terminal proline-rich domain. No mutation in the SLC1A1 gene was found in the original family, referred to as NDH1. </p><p>In a Bangladeshi girl and Welsh boy with neonatal diabetes and hepatitis and congenital hypothyroidism, Dimitri et al. (2011) identified homozygosity for a 412-kb deletion involving exons 1-2 of the GLIS3 gene in the girl (chr9:4,182,610-4,594,192, NCBI36/hg18) and a 482-kb deletion involving GLIS3 exons 1-4 in the boy (chr9:4,092,663-4,575,167, NCBI36/hg18). Their parents were each heterozygous for the respective deletion. Both deletions encompassed the SLC1A1 gene; the authors noted that deletion of the SLC1A1 gene does not result in any detectable pathologic consequences in humans. </p><p>Dimitri et al. (2015) sequenced the GLIS3 gene in 10 unrelated patients with NDH and identified homozygosity for multiexon deletions in most patients, but also detected homozygosity for missense mutations in 2 patients (C536W, 610192.0002; H561Y, 610192.0003) and homozygosity for a 1-bp deletion in 1 patient (610192.0004). In addition, 1 patient with a milder phenotype that did not include congenital hypothyroidism was compound heterozygous for a missense mutation (R589W) and whole-gene deletion of GLIS3; the authors suggested that R589W might represent a hypomorphic change with residual function. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Kang et al. (2009) developed a line of mice expressing mutant Glis3 in which the critical zinc finger-5 was deleted. They found that homozygous mutant (Glis3 zf/zf) embryos, but not Glis3 zf/+ embryos, developed polycystic kidneys by embryonic day 15.5, and that the cysts enlarged with age. Glis3 zf/zf mice also showed dilated pancreatic tubules and developed neonatal diabetes due to insufficient pancreatic beta cells. Glis3 dysfunction did not prevent formation of the primary cilium, but many cells in renal cysts lacked a primary cilium. Glis3 zf/zf renal tubule epithelial cells and Glis3-knockdown tubule cells showed increased proliferation and altered localization of cell-cell junction proteins. Expression profiling showed that expression of Dctn5 (612962) and Pkd1 (601313) was downregulated in Glis3 zf/zf and Glis3-knockdown cells. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
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</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLIS3, 1-BP INS, 2067C
|
|
|
|
|
|
<br />
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|
|
|
SNP: rs869320723,
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|
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|
|
|
|
|
ClinVar: RCV000001388
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a consanguineous Saudi Arabian family with children affected with neonatal diabetes mellitus and congenital hypothyroidism (NDH; 610199), reported by Taha et al. (2003), Senee et al. (2006) described a homozygous 1-bp insertion, 2067insC, in the GLIS3 gene, predicted to lead to a frameshift and a truncated protein (625fs703Ter), altering the C-terminal proline-rich domain. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLIS3, CYS536TRP
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|
|
<br />
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|
|
SNP: rs879255608,
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|
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ClinVar: RCV000239543
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 6.8-year-old Arab boy (patient 5) with neonatal diabetes mellitus and congenital hypothyroidism (NDH; 610199), Dimitri et al. (2015) identified homozygosity for a c.1608C-G transversion (c.1608C-G, NM_001042413) in exon 4 of the GLIS3 gene, resulting in a cys536-to-trp (C536W) substitution at a highly conserved residue within the DNA binding domain. The patient did not have hepatic, renal, or exocrine pancreatic disease, and did not exhibit facial dysmorphism. However, he showed developmental delay and also was reported to have skeletal abnormalities with prominent right sixth and seventh ribs, but normal bone biochemistry. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
<div>
|
|
<br />
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|
</div>
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</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLIS3, HIS561TYR
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|
|
<br />
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|
|
SNP: rs868197660,
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|
|
ClinVar: RCV000239596
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4.5-year-old Kurdish boy (patient 10) with neonatal diabetes mellitus and congenital hypothyroidism (NDH; 610199), Dimitri et al. (2015) identified homozygosity for a c.1681C-T transition (c.1681C-T, NM_001042413) in exon 4 of the GLIS3 gene, resulting in a his561-to-tyr (H561Y) substitution at a highly conserved residue within the DNA binding domain. Other features in this patient included facial dysmorphism, congenital glaucoma, hepatic fibrosis, patent ductus arteriosus, and an isolated renal cyst. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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|
<div>
|
|
<br />
|
|
</div>
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</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
GLIS3, 1-BP DEL, 932G
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs879255609,
|
|
|
|
|
|
|
|
ClinVar: RCV000239491
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2.5-year-old Pakistani girl (patient 8) with neonatal diabetes mellitus and congenital hypothyroidism (NDH; 610199), Dimitri et al. (2015) identified homozygosity for a 1-bp deletion (c.932delG, NM_001042413) in exon 4 of the GLIS3 gene, causing a frameshift (Gly311Alafs) within the DNA binding domain. Other features in this patient included renal cystic dysplasia and osteopenia, as well as unilateral sensorineural deafness. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beak, J. Y., Kang, H. S., Kim, Y.-S., Jetten, A. M.
|
|
<strong>Functional analysis of the zinc finger and activation domains of Glis3 and mutant Glis3(NDH1).</strong>
|
|
Nucleic Acids Res. 36: 1690-1702, 2008.
|
|
|
|
|
|
[PubMed: 18263616]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/gkn009]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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Dimitri, P., Habeb, A. M., Gurbuz, F., Millward, A., Wallis, S., Moussa, K., Akcay, T., Taha, D., Hogue, J., Slavotinek, A., Wales, J. K. H., Shetty, A., Hawkes, D., Hattersley, A. T., Ellard, S., De Franco, E.
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<strong>Expanding the clinical spectrum associated with GLIS3 mutations.</strong>
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J. Clin. Endocr. Metab. 100: E1362-E1369, 2015. Note: Electronic Article. Erratum: J. Clin. Endocr. Metab. 100: 4685 only, 2015.
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[PubMed: 26259131]
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[Full Text: https://doi.org/10.1210/jc.2015-1827]
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Dimitri, P., Warner, J. T., Minton, J. A. L., Patch, A. M., Ellard, S., Hattersley, A. T., Barr, S., Hawkes, D., Wales, J. K., Gregory, J. W.
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<strong>Novel GLIS3 mutations demonstrate an extended multisystem phenotype.</strong>
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Europ. J. Endocr. 164: 437-443, 2011.
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[PubMed: 21139041]
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[Full Text: https://doi.org/10.1530/EJE-10-0893]
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Kang, H. S., Beak, J. Y., Kim, Y.-S., Herbert, R., Jetten, A. M.
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<strong>Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.</strong>
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Molec. Cell. Biol. 29: 2556-2569, 2009.
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[PubMed: 19273592]
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[Full Text: https://doi.org/10.1128/MCB.01620-08]
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Kim, Y.-S., Nakanishi, G., Lewandoski, M., Jetten, A. M.
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<strong>GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions.</strong>
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Nucleic Acids Res. 31: 5513-5525, 2003.
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[PubMed: 14500813]
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[Full Text: https://doi.org/10.1093/nar/gkg776]
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Senee, V., Chelala, C., Duchatelet, S., Feng, D., Blanc, H., Cossec, J.-C., Charon, C., Nicolino, M., Boileau, P., Cavener, D. R., Bougneres, P., Taha, D., Julier, C.
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<strong>Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.</strong>
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Nature Genet. 38: 682-687, 2006.
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[PubMed: 16715098]
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[Full Text: https://doi.org/10.1038/ng1802]
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Taha, D., Barbar, M., Kanaan, H., Williamson Balfe, J.
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<strong>Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?</strong>
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Am. J. Med. Genet. 122A: 269-273, 2003.
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[PubMed: 12966531]
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[Full Text: https://doi.org/10.1002/ajmg.a.20267]
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Marla J. F. O'Neill - updated : 05/12/2016<br>Patricia A. Hartz - updated : 8/25/2011<br>Victor A. McKusick - updated : 6/20/2006
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