2543 lines
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Entry
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- *604318 - GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 1; GTF2IRD1
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- OMIM
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<p>
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<span class="h4">*604318</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#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>
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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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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div 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 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=ENSG00000006704;t=ENST00000424337" 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=9569" 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=604318" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000006704;t=ENST00000424337" 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_001199207,NM_001410888,NM_005685,NM_016328,XM_006716182,XM_011516713,XM_017012802,XM_017012804,XM_017012805,XM_047421056,XM_047421057,XM_047421058,XM_047421059,XM_047421060,XM_047421061,XM_047421062,XM_047421063,XM_047421064,XM_047421065,XM_047421066" 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_005685" 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=604318" 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=08379&isoform_id=08379_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/GTF2IRD1" 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/4680484,5053124,6572672,6635333,6650321,7705387,17390303,21263630,30142017,41350058,41350059,49781272,62088358,119590005,119590006,119590007,312836811,312836831,578814774,767949109,1034657461,1034657467,1034657469,2217369115,2217369117,2217369119,2217369121,2217369124,2217369126,2217369130,2217369132,2217369134,2217369137,2217369140,2287478795,2462616890,2462616892,2462616894,2462616896,2462616898,2462616900,2462616902,2462616904,2462616906,2462616908,2462616910,2462616912,2462616914,2462616916,2462616918,2462616920" 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/Q9UHL9" 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=9569" 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=ENSG00000006704;t=ENST00000424337" 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=GTF2IRD1" 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=GTF2IRD1" 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+9569" 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/GTF2IRD1" 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:9569" 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/9569" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr7&hgg_gene=ENST00000424337.7&hgg_start=74453906&hgg_end=74602605&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><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4661" 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://medlineplus.gov/genetics/gene/gtf2ird1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604318[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><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604318[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/GTF2IRD1/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/ENSG00000006704" 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=GTF2IRD1" 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=GTF2IRD1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GTF2IRD1&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/PA29047" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/gene/HGNC:4661" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1861942" 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/GTF2IRD1#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:1861942" 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/9569/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=9569" 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-010328-18" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<div style="display: table-row">
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<div style="display: table-cell;">Cellular Pathways</div>
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</a>
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<div><a href="https://reactome.org/content/query?q=GTF2IRD1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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604318
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 1; GTF2IRD1
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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GENERAL TRANSCRIPTION FACTOR II-I REPEAT DOMAIN-CONTAINING PROTEIN 1<br />
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GENERAL TRANSCRIPTION FACTOR III; GTF3<br />
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MUSCLE TFII-I REPEAT DOMAIN-CONTAINING PROTEIN 1; MUSTRD1<br />
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WBSCR11<br />
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BINDING FACTOR FOR EARLY ENHANCER; BEN
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</span>
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</h4>
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<div>
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<br />
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<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=GTF2IRD1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GTF2IRD1</a></em></strong>
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</span>
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</p>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/7/338?start=-3&limit=10&highlight=338">7q11.23</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:74453906-74602605&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">7:74,453,906-74,602,605</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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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The GTF2IRD1 gene was identified within the chromosomal region on 7q11.23 commonly deleted in Williams syndrome (<a href="/entry/194050">194050</a>) and is involved in mammalian craniofacial and cognitive development (<a href="#9" class="mim-tip-reference" title="Tassabehji, M., Hammond, P., Karmiloff-Smith, A., Thompson, P., Thorgeirsson, S. S., Durkin, M. E., Popescu, N. C., Hutton, T., Metcalfe, K., Rucka, A., Stewart, H., Read, A. P., Maconochie, M., Donnai, D. <strong>GTF2IRD1 in craniofacial development of humans and mice.</strong> Science 310: 1184-1187, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16293761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16293761</a>] [<a href="https://doi.org/10.1126/science.1116142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16293761">Tassabehji et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16293761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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<p><a href="#8" class="mim-tip-reference" title="Tassabehji, M., Carette, M., Wilmot, C., Donnai, D., Read, A. P., Metcalfe, K. <strong>A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.</strong> Europ. J. Hum. Genet. 7: 737-747, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10573005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10573005</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10573005">Tassabehji et al. (1999)</a> isolated and characterized a 3.4-kb gene, which they called general transcription factor III (GTF3), which occupies about 140 kb of the region deleted in Williams syndrome. Northern blot analysis showed that the gene is expressed in skeletal muscle and heart, and RT-PCR analysis showed expression in a range of adult tissues with stronger expression in fetal tissues. Part of the conceptual GTF3 protein sequence was found to be almost identical to a slow muscle-fiber enhancer binding protein identified by <a href="#4" class="mim-tip-reference" title="O'Mahoney, J. V., Guven, K. L., Lin, J., Joya, J. E., Robinson, C. S., Wade, R. P., Hardeman, E. C. <strong>Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1.</strong> Molec. Cell. Biol. 18: 6641-6652, 1998. Note: Erratum: Molec. Cell. Biol. 20: 5361 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9774679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9774679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9774679[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.18.11.6641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9774679">O'Mahoney et al. (1998)</a> and termed MusTRD1. GTF3 showed significant homology to the 90-amino acid putative helix-loop-helix repeat (HLH) domains of the transcription factor TFII-I (GTF2I; <a href="/entry/601679">601679</a>), which maps distal to GTF4 within the Williams syndrome deleted region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9774679+10573005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Osborne, L. R., Campbell, T., Daradich, A., Scherer, S. W., Tsui, L.-C. <strong>Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.</strong> Genomics 57: 279-284, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198167</a>] [<a href="https://doi.org/10.1006/geno.1999.5784" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10198167">Osborne et al. (1999)</a> identified the same gene, which they termed WBSCR11, by genomic DNA sequence analysis and screening of 2 colon carcinoma cell line cDNA libraries. The cDNA sequence predicts an 895-amino acid protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10198167" 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="Franke, Y, Peoples, R. J., Francke, U. <strong>Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.</strong> Cytogenet Cell Genet. 86: 296-304, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10575229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10575229</a>] [<a href="https://doi.org/10.1159/000015322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10575229">Franke et al. (1999)</a> cloned GTF2IRD1 from cDNA libraries representing several diverse tissues, and they obtained a full-length cDNA by 5-prime RACE of an adult brain cDNA library. They also identified several splice variants arising from exon skipping. The longest deduced protein contains 944 amino acids. In addition to the repeated GTF2I motifs and HLH repeats, <a href="#2" class="mim-tip-reference" title="Franke, Y, Peoples, R. J., Francke, U. <strong>Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.</strong> Cytogenet Cell Genet. 86: 296-304, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10575229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10575229</a>] [<a href="https://doi.org/10.1159/000015322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10575229">Franke et al. (1999)</a> identified a myc (<a href="/entry/190080">190080</a>)-type HLH dimerization domain, a number of putative phosphorylation sites and N-myristoylation sites, an amidation site, and several putative nuclear localization signals. Northern blot analysis detected expression of GTF2IRD1 in all adult and fetal tissues except leukocytes. The dominant transcript was 3.6 kb long, with sizes ranging from 1.5 kb to 5.0 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10575229" 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 Western blot analysis, <a href="#11" class="mim-tip-reference" title="Yan, X, Zhao, X., Qian, M., Guo, N, Gong, X., Zhu, X. <strong>Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I.</strong> Biochem. J. 345: 749-757, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10642537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10642537</a>]" pmid="10642537">Yan et al. (2000)</a> found that endogenous GTF2IRD1, which they designated CREAM1, was expressed at low levels as a 120-kD protein in a variety of human cell lines and tissues. GTF2IRD1 was expressed in the nucleus of transfected cells, and deletion of the C-terminal nuclear localization signal resulted in cytoplasmic expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10642537" 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="Bayarsaihan, D., Ruddle, F. H. <strong>Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains.</strong> Proc. Nat. Acad. Sci. 97: 7342-7347, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10861001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.97.13.7342" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10861001">Bayarsaihan and Ruddle (2000)</a> cloned mouse Gtf2ird1, which they designated Ben. The deduced full-length 1,072-amino acid protein contains an N-terminal leucine zipper motif, followed by 6 helix-loop-helix domains, a nuclear localization signal, and a C-terminal serine-rich region. Northern blot analysis detected several Ben transcripts in all mouse tissues examined. Western blot analysis showed several Ben isoforms with apparent molecular masses of 40 to 165 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861001" 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="Osborne, L. R., Campbell, T., Daradich, A., Scherer, S. W., Tsui, L.-C. <strong>Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.</strong> Genomics 57: 279-284, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198167</a>] [<a href="https://doi.org/10.1006/geno.1999.5784" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10198167">Osborne et al. (1999)</a> determined that the WBSCR11 gene spans 95 kb of genomic DNA and consists of 26 exons, not including the last noncoding exon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10198167" 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="Franke, Y, Peoples, R. J., Francke, U. <strong>Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.</strong> Cytogenet Cell Genet. 86: 296-304, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10575229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10575229</a>] [<a href="https://doi.org/10.1159/000015322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10575229">Franke et al. (1999)</a> determined that the GTF2IRD1 gene contains up to 30 exons and spans about 105 kb. The coding sequence uses 26 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10575229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Palmer, S. J., Santucci, N., Widagdo, J., Bontempo, S. J., Taylor, K. M., Tay, E. S. E., Hook, J., Lemckert, F., Gunning, P. W., Hardeman, E. C. <strong>Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.</strong> J. Biol. Chem. 285: 4715-4724, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20007321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20007321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20007321[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/10.1074/jbc.M109.086660" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20007321">Palmer et al. (2010)</a> determined that the region upstream of the GTF2IRD1 gene contains a well-conserved CCAAT box and 3 canonical GTF2IRD1-recognition sequences (GGATTA), one of which is inverted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20007321" 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="#2" class="mim-tip-reference" title="Franke, Y, Peoples, R. J., Francke, U. <strong>Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.</strong> Cytogenet Cell Genet. 86: 296-304, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10575229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10575229</a>] [<a href="https://doi.org/10.1159/000015322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10575229">Franke et al. (1999)</a> reported that the GF2IRD1 gene maps within the WBS deletion region on chromosome 7q11.23 and is oriented 5-prime to 3-prime in the centromeric to telomeric orientation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10575229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Tassabehji, M., Carette, M., Wilmot, C., Donnai, D., Read, A. P., Metcalfe, K. <strong>A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.</strong> Europ. J. Hum. Genet. 7: 737-747, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10573005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10573005</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10573005">Tassabehji et al. (1999)</a> tabulated 11 genes in addition to GTF3 that had been mapped to the deleted area of chromosome 7 in classic Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10573005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Lazebnik, M. B., Tussie-Luna, M. I., Roy, A. L. <strong>Determination and functional analysis of the consensus binding site for TFII-I family member BEN, implicated in Williams-Beuren syndrome.</strong> J. Biol. Chem. 283: 11078-11082, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18326499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18326499</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18326499[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/10.1074/jbc.C800049200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18326499">Lazebnik et al. (2008)</a> stated that the mouse Gtf2ird1 gene maps to a region of chromosome 5 that shares homology of synteny with human chromosome 7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18326499" 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="#11" class="mim-tip-reference" title="Yan, X, Zhao, X., Qian, M., Guo, N, Gong, X., Zhu, X. <strong>Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I.</strong> Biochem. J. 345: 749-757, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10642537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10642537</a>]" pmid="10642537">Yan et al. (2000)</a> determined that GTF2IRD1 interacted with the RB1 protein (<a href="/entry/614041">614041</a>) in vitro and in vivo. They also showed that full length GTF2IRD1 stimulated transcription of a reporter gene and, by mutation analysis, they localized the activation domain to the N terminus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10642537" 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 yeast 1-hybrid analysis, <a href="#1" class="mim-tip-reference" title="Bayarsaihan, D., Ruddle, F. H. <strong>Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains.</strong> Proc. Nat. Acad. Sci. 97: 7342-7347, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10861001[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.97.13.7342" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10861001">Bayarsaihan and Ruddle (2000)</a> showed that in vitro-translated mouse Ben interacted with an early enhancer upstream of the Hoxc8 (<a href="/entry/142970">142970</a>) transcription start site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Ring, C, Ogata, S., Meek, L., Song, J., Ohta, T., Miyazono, K., Cho, K. W. <strong>The role of a Williams-Beuren syndrome-associated helix-loop-helix domain-containing transcription factor in activin/nodal signaling.</strong> Genes Dev. 16: 820-835, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11937490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11937490</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11937490[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/10.1101/gad.963802" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11937490">Ring et al. (2002)</a> characterized the Xenopus homolog of GTF2IRD1, Xwbscr11. They determined that Xwbscr11 binds DNA via selective HLH repeats and interacts with the transcription factor FOXH1 (<a href="/entry/603621">603621</a>) and the signal transduction molecules Smad2 (<a href="/entry/601366">601366</a>) and Smad3 (<a href="/entry/603109">603109</a>) to affect activin (<a href="/entry/147290">147290</a>)/nodal-mediated induction of the distal element of the Xenopus goosecoid promoter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11937490" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Vullhorst, D., Buonanno, A. <strong>Characterization of general transcription factor 3, a transcription factor involved in slow muscle-specific gene expression.</strong> J Biol. Chem. 278: 8370-8379, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12475981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12475981</a>] [<a href="https://doi.org/10.1074/jbc.M209361200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12475981">Vullhorst and Buonanno (2003)</a> characterized mouse Gtf3 splice variants. They determined that HLH domain 4 is necessary and sufficient for binding the bicoid-like motif of the troponin (<a href="/entry/191042">191042</a>) enhancer. An isoform that lacks exon 23 and exons 26 through 28 interacted most avidly with the bicoid-like motif. Isoforms that included these exons failed to bind in gel retardation assays. The authors also determined that Gtf3 polypeptides associate with each other via the leucine zipper. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12475981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Lazebnik, M. B., Tussie-Luna, M. I., Roy, A. L. <strong>Determination and functional analysis of the consensus binding site for TFII-I family member BEN, implicated in Williams-Beuren syndrome.</strong> J. Biol. Chem. 283: 11078-11082, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18326499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18326499</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18326499[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/10.1074/jbc.C800049200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18326499">Lazebnik et al. (2008)</a> showed that BEN bound the 8-bp core consensus sequence CAG(C/G)G(C/A)GA, surrounded by G- and C-rich sequences. BEN repressed expression of a reporter gene containing 3 copies of the sequence 5-prime-GGGGGCAGCGACAGCCCCC-3-prime. Knockdown of Ben expression in C2C12 mouse myoblasts enhanced expression of Bmpr1b (<a href="/entry/603248">603248</a>), Sox4 (<a href="/entry/184430">184430</a>), En1 (<a href="/entry/131290">131290</a>), and Fgf15, the mouse ortholog of FGF19 (<a href="/entry/603891">603891</a>). Chromatin immunoprecipitation analysis followed by quantitative PCR confirmed binding of BEN to Fgf15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18326499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Palmer, S. J., Santucci, N., Widagdo, J., Bontempo, S. J., Taylor, K. M., Tay, E. S. E., Hook, J., Lemckert, F., Gunning, P. W., Hardeman, E. C. <strong>Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.</strong> J. Biol. Chem. 285: 4715-4724, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20007321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20007321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20007321[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/10.1074/jbc.M109.086660" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20007321">Palmer et al. (2010)</a> found that GTF2IRD1 is subject to negative autoregulation. All isoforms of mouse or human GTF2IRD1 bound 3 canonical GTF2IRD1-binding sites (GGATTA) in the region upstream of the GTF2IRD1 gene. EMSA using artificial DNA probes and in vitro-translated GTF2IRD1 revealed enhanced binding in the presence of 3 GGATTA sites and dimerization of GTF2IRD1 proteins via an N-terminal leucine zipper region. Binding by GTF2IRD1 repressed expression of a reporter gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20007321" 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="#8" class="mim-tip-reference" title="Tassabehji, M., Carette, M., Wilmot, C., Donnai, D., Read, A. P., Metcalfe, K. <strong>A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.</strong> Europ. J. Hum. Genet. 7: 737-747, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10573005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10573005</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10573005">Tassabehji et al. (1999)</a> found that GTF3 was deleted in patients with classic Williams syndrome, but not in patients with partial deletions who had only supravalvular aortic stenosis. They suggested that haploinsufficiency of the GTF3 gene may be the cause of the abnormal muscle fatigability that is characteristic of Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10573005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Tassabehji, M., Hammond, P., Karmiloff-Smith, A., Thompson, P., Thorgeirsson, S. S., Durkin, M. E., Popescu, N. C., Hutton, T., Metcalfe, K., Rucka, A., Stewart, H., Read, A. P., Maconochie, M., Donnai, D. <strong>GTF2IRD1 in craniofacial development of humans and mice.</strong> Science 310: 1184-1187, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16293761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16293761</a>] [<a href="https://doi.org/10.1126/science.1116142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16293761">Tassabehji et al. (2005)</a> reported a rare WBS individual with an atypical deletion, including the GTF2IRD1 gene, showed facial dysmorphism and cognitive deficits that differed from those of classic WBS cases. They proposed a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16293761" 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="#9" class="mim-tip-reference" title="Tassabehji, M., Hammond, P., Karmiloff-Smith, A., Thompson, P., Thorgeirsson, S. S., Durkin, M. E., Popescu, N. C., Hutton, T., Metcalfe, K., Rucka, A., Stewart, H., Read, A. P., Maconochie, M., Donnai, D. <strong>GTF2IRD1 in craniofacial development of humans and mice.</strong> Science 310: 1184-1187, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16293761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16293761</a>] [<a href="https://doi.org/10.1126/science.1116142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16293761">Tassabehji et al. (2005)</a> demonstrated that GTF2IRD1 is involved in mammalian craniofacial and cognitive development. Gtf2ird1-null mice exhibited phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome; craniofacial imaging revealed abnormalities in both skull and jaws that may arise through misregulation of goosecoid (<a href="/entry/138890">138890</a>), a downstream target of Gtf2ird1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16293761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Palmer, S. J., Santucci, N., Widagdo, J., Bontempo, S. J., Taylor, K. M., Tay, E. S. E., Hook, J., Lemckert, F., Gunning, P. W., Hardeman, E. C. <strong>Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.</strong> J. Biol. Chem. 285: 4715-4724, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20007321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20007321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20007321[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/10.1074/jbc.M109.086660" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20007321">Palmer et al. (2010)</a> found that mutant mice lacking Gtf2ird1 exon 2 expressed a mutant Gtf2ird1 transcript. The mutant transcript was expressed at wildtype levels due to escape from nonsense mediated decay and escape from negative autoregulation by Gtf2ird1 itself. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20007321" 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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Bayarsaihan, D., Ruddle, F. H.
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<strong>Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains.</strong>
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Proc. Nat. Acad. Sci. 97: 7342-7347, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861001</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10861001[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=10861001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.97.13.7342" target="_blank">Full Text</a>]
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Franke, Y, Peoples, R. J., Francke, U.
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<strong>Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.</strong>
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Cytogenet Cell Genet. 86: 296-304, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10575229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10575229</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10575229" 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/10.1159/000015322" target="_blank">Full Text</a>]
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Lazebnik, M. B., Tussie-Luna, M. I., Roy, A. L.
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<strong>Determination and functional analysis of the consensus binding site for TFII-I family member BEN, implicated in Williams-Beuren syndrome.</strong>
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J. Biol. Chem. 283: 11078-11082, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18326499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18326499</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18326499[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=18326499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.C800049200" target="_blank">Full Text</a>]
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O'Mahoney, J. V., Guven, K. L., Lin, J., Joya, J. E., Robinson, C. S., Wade, R. P., Hardeman, E. C.
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<strong>Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1.</strong>
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Molec. Cell. Biol. 18: 6641-6652, 1998. Note: Erratum: Molec. Cell. Biol. 20: 5361 only, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9774679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9774679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9774679[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=9774679" 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.18.11.6641" target="_blank">Full Text</a>]
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Osborne, L. R., Campbell, T., Daradich, A., Scherer, S. W., Tsui, L.-C.
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<strong>Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.</strong>
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Genomics 57: 279-284, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198167</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10198167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1999.5784" target="_blank">Full Text</a>]
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Palmer, S. J., Santucci, N., Widagdo, J., Bontempo, S. J., Taylor, K. M., Tay, E. S. E., Hook, J., Lemckert, F., Gunning, P. W., Hardeman, E. C.
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<strong>Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.</strong>
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J. Biol. Chem. 285: 4715-4724, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20007321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20007321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20007321[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=20007321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M109.086660" target="_blank">Full Text</a>]
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<a id="Ring2002" class="mim-anchor"></a>
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Ring, C, Ogata, S., Meek, L., Song, J., Ohta, T., Miyazono, K., Cho, K. W.
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<strong>The role of a Williams-Beuren syndrome-associated helix-loop-helix domain-containing transcription factor in activin/nodal signaling.</strong>
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Genes Dev. 16: 820-835, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11937490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11937490</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11937490[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=11937490" 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/10.1101/gad.963802" target="_blank">Full Text</a>]
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<a id="Tassabehji1999" class="mim-anchor"></a>
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Tassabehji, M., Carette, M., Wilmot, C., Donnai, D., Read, A. P., Metcalfe, K.
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<strong>A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.</strong>
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Europ. J. Hum. Genet. 7: 737-747, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10573005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10573005</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10573005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200396" target="_blank">Full Text</a>]
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<a id="Tassabehji2005" class="mim-anchor"></a>
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Tassabehji, M., Hammond, P., Karmiloff-Smith, A., Thompson, P., Thorgeirsson, S. S., Durkin, M. E., Popescu, N. C., Hutton, T., Metcalfe, K., Rucka, A., Stewart, H., Read, A. P., Maconochie, M., Donnai, D.
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<strong>GTF2IRD1 in craniofacial development of humans and mice.</strong>
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Science 310: 1184-1187, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16293761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16293761</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16293761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1116142" target="_blank">Full Text</a>]
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Vullhorst, D., Buonanno, A.
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<strong>Characterization of general transcription factor 3, a transcription factor involved in slow muscle-specific gene expression.</strong>
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J Biol. Chem. 278: 8370-8379, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12475981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12475981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12475981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M209361200" target="_blank">Full Text</a>]
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Yan, X, Zhao, X., Qian, M., Guo, N, Gong, X., Zhu, X.
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<strong>Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I.</strong>
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Biochem. J. 345: 749-757, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10642537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10642537</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10642537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 1/26/2012
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Ada Hamosh - updated : 1/30/2006<br>Patricia A. Hartz - updated : 5/8/2003<br>Carol A. Bocchini - updated : 12/7/1999
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 11/29/1999
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carol : 06/10/2019
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alopez : 11/26/2012<br>mgross : 3/14/2012<br>terry : 1/26/2012<br>alopez : 6/17/2011<br>alopez : 1/31/2006<br>terry : 1/30/2006<br>cwells : 5/8/2003<br>carol : 12/7/1999<br>carol : 11/30/1999<br>carol : 11/30/1999
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<strong>*</strong> 604318
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GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 1; GTF2IRD1
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GENERAL TRANSCRIPTION FACTOR II-I REPEAT DOMAIN-CONTAINING PROTEIN 1<br />
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GENERAL TRANSCRIPTION FACTOR III; GTF3<br />
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MUSCLE TFII-I REPEAT DOMAIN-CONTAINING PROTEIN 1; MUSTRD1<br />
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WBSCR11<br />
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BINDING FACTOR FOR EARLY ENHANCER; BEN
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<strong><em>HGNC Approved Gene Symbol: GTF2IRD1</em></strong>
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Cytogenetic location: 7q11.23
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:74,453,906-74,602,605 </span>
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<span class="small">(from NCBI)</span>
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<p>The GTF2IRD1 gene was identified within the chromosomal region on 7q11.23 commonly deleted in Williams syndrome (194050) and is involved in mammalian craniofacial and cognitive development (Tassabehji et al., 2005). </p>
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<strong>Cloning and Expression</strong>
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<p>Tassabehji et al. (1999) isolated and characterized a 3.4-kb gene, which they called general transcription factor III (GTF3), which occupies about 140 kb of the region deleted in Williams syndrome. Northern blot analysis showed that the gene is expressed in skeletal muscle and heart, and RT-PCR analysis showed expression in a range of adult tissues with stronger expression in fetal tissues. Part of the conceptual GTF3 protein sequence was found to be almost identical to a slow muscle-fiber enhancer binding protein identified by O'Mahoney et al. (1998) and termed MusTRD1. GTF3 showed significant homology to the 90-amino acid putative helix-loop-helix repeat (HLH) domains of the transcription factor TFII-I (GTF2I; 601679), which maps distal to GTF4 within the Williams syndrome deleted region. </p><p>Osborne et al. (1999) identified the same gene, which they termed WBSCR11, by genomic DNA sequence analysis and screening of 2 colon carcinoma cell line cDNA libraries. The cDNA sequence predicts an 895-amino acid protein. </p><p>Franke et al. (1999) cloned GTF2IRD1 from cDNA libraries representing several diverse tissues, and they obtained a full-length cDNA by 5-prime RACE of an adult brain cDNA library. They also identified several splice variants arising from exon skipping. The longest deduced protein contains 944 amino acids. In addition to the repeated GTF2I motifs and HLH repeats, Franke et al. (1999) identified a myc (190080)-type HLH dimerization domain, a number of putative phosphorylation sites and N-myristoylation sites, an amidation site, and several putative nuclear localization signals. Northern blot analysis detected expression of GTF2IRD1 in all adult and fetal tissues except leukocytes. The dominant transcript was 3.6 kb long, with sizes ranging from 1.5 kb to 5.0 kb. </p><p>By Western blot analysis, Yan et al. (2000) found that endogenous GTF2IRD1, which they designated CREAM1, was expressed at low levels as a 120-kD protein in a variety of human cell lines and tissues. GTF2IRD1 was expressed in the nucleus of transfected cells, and deletion of the C-terminal nuclear localization signal resulted in cytoplasmic expression. </p><p>Bayarsaihan and Ruddle (2000) cloned mouse Gtf2ird1, which they designated Ben. The deduced full-length 1,072-amino acid protein contains an N-terminal leucine zipper motif, followed by 6 helix-loop-helix domains, a nuclear localization signal, and a C-terminal serine-rich region. Northern blot analysis detected several Ben transcripts in all mouse tissues examined. Western blot analysis showed several Ben isoforms with apparent molecular masses of 40 to 165 kD. </p>
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<strong>Gene Structure</strong>
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<p>Osborne et al. (1999) determined that the WBSCR11 gene spans 95 kb of genomic DNA and consists of 26 exons, not including the last noncoding exon. </p><p>Franke et al. (1999) determined that the GTF2IRD1 gene contains up to 30 exons and spans about 105 kb. The coding sequence uses 26 exons. </p><p>Palmer et al. (2010) determined that the region upstream of the GTF2IRD1 gene contains a well-conserved CCAAT box and 3 canonical GTF2IRD1-recognition sequences (GGATTA), one of which is inverted. </p>
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<strong>Mapping</strong>
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<p>Franke et al. (1999) reported that the GF2IRD1 gene maps within the WBS deletion region on chromosome 7q11.23 and is oriented 5-prime to 3-prime in the centromeric to telomeric orientation. </p><p>Tassabehji et al. (1999) tabulated 11 genes in addition to GTF3 that had been mapped to the deleted area of chromosome 7 in classic Williams syndrome. </p><p>Lazebnik et al. (2008) stated that the mouse Gtf2ird1 gene maps to a region of chromosome 5 that shares homology of synteny with human chromosome 7. </p>
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<strong>Gene Function</strong>
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<p>Yan et al. (2000) determined that GTF2IRD1 interacted with the RB1 protein (614041) in vitro and in vivo. They also showed that full length GTF2IRD1 stimulated transcription of a reporter gene and, by mutation analysis, they localized the activation domain to the N terminus. </p><p>Using yeast 1-hybrid analysis, Bayarsaihan and Ruddle (2000) showed that in vitro-translated mouse Ben interacted with an early enhancer upstream of the Hoxc8 (142970) transcription start site. </p><p>Ring et al. (2002) characterized the Xenopus homolog of GTF2IRD1, Xwbscr11. They determined that Xwbscr11 binds DNA via selective HLH repeats and interacts with the transcription factor FOXH1 (603621) and the signal transduction molecules Smad2 (601366) and Smad3 (603109) to affect activin (147290)/nodal-mediated induction of the distal element of the Xenopus goosecoid promoter. </p><p>Vullhorst and Buonanno (2003) characterized mouse Gtf3 splice variants. They determined that HLH domain 4 is necessary and sufficient for binding the bicoid-like motif of the troponin (191042) enhancer. An isoform that lacks exon 23 and exons 26 through 28 interacted most avidly with the bicoid-like motif. Isoforms that included these exons failed to bind in gel retardation assays. The authors also determined that Gtf3 polypeptides associate with each other via the leucine zipper. </p><p>Lazebnik et al. (2008) showed that BEN bound the 8-bp core consensus sequence CAG(C/G)G(C/A)GA, surrounded by G- and C-rich sequences. BEN repressed expression of a reporter gene containing 3 copies of the sequence 5-prime-GGGGGCAGCGACAGCCCCC-3-prime. Knockdown of Ben expression in C2C12 mouse myoblasts enhanced expression of Bmpr1b (603248), Sox4 (184430), En1 (131290), and Fgf15, the mouse ortholog of FGF19 (603891). Chromatin immunoprecipitation analysis followed by quantitative PCR confirmed binding of BEN to Fgf15. </p><p>Palmer et al. (2010) found that GTF2IRD1 is subject to negative autoregulation. All isoforms of mouse or human GTF2IRD1 bound 3 canonical GTF2IRD1-binding sites (GGATTA) in the region upstream of the GTF2IRD1 gene. EMSA using artificial DNA probes and in vitro-translated GTF2IRD1 revealed enhanced binding in the presence of 3 GGATTA sites and dimerization of GTF2IRD1 proteins via an N-terminal leucine zipper region. Binding by GTF2IRD1 repressed expression of a reporter gene. </p>
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<strong>Molecular Genetics</strong>
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<p>Tassabehji et al. (1999) found that GTF3 was deleted in patients with classic Williams syndrome, but not in patients with partial deletions who had only supravalvular aortic stenosis. They suggested that haploinsufficiency of the GTF3 gene may be the cause of the abnormal muscle fatigability that is characteristic of Williams syndrome. </p><p>Tassabehji et al. (2005) reported a rare WBS individual with an atypical deletion, including the GTF2IRD1 gene, showed facial dysmorphism and cognitive deficits that differed from those of classic WBS cases. They proposed a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders. </p>
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<strong>Animal Model</strong>
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<p>Tassabehji et al. (2005) demonstrated that GTF2IRD1 is involved in mammalian craniofacial and cognitive development. Gtf2ird1-null mice exhibited phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome; craniofacial imaging revealed abnormalities in both skull and jaws that may arise through misregulation of goosecoid (138890), a downstream target of Gtf2ird1. </p><p>Palmer et al. (2010) found that mutant mice lacking Gtf2ird1 exon 2 expressed a mutant Gtf2ird1 transcript. The mutant transcript was expressed at wildtype levels due to escape from nonsense mediated decay and escape from negative autoregulation by Gtf2ird1 itself. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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Bayarsaihan, D., Ruddle, F. H.
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<strong>Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains.</strong>
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Proc. Nat. Acad. Sci. 97: 7342-7347, 2000.
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[PubMed: 10861001]
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[Full Text: https://doi.org/10.1073/pnas.97.13.7342]
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<p class="mim-text-font">
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Franke, Y, Peoples, R. J., Francke, U.
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<strong>Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.</strong>
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Cytogenet Cell Genet. 86: 296-304, 1999.
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[PubMed: 10575229]
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[Full Text: https://doi.org/10.1159/000015322]
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<li>
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<p class="mim-text-font">
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Lazebnik, M. B., Tussie-Luna, M. I., Roy, A. L.
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<strong>Determination and functional analysis of the consensus binding site for TFII-I family member BEN, implicated in Williams-Beuren syndrome.</strong>
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J. Biol. Chem. 283: 11078-11082, 2008.
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[PubMed: 18326499]
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[Full Text: https://doi.org/10.1074/jbc.C800049200]
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O'Mahoney, J. V., Guven, K. L., Lin, J., Joya, J. E., Robinson, C. S., Wade, R. P., Hardeman, E. C.
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<strong>Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1.</strong>
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Molec. Cell. Biol. 18: 6641-6652, 1998. Note: Erratum: Molec. Cell. Biol. 20: 5361 only, 2000.
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[PubMed: 9774679]
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[Full Text: https://doi.org/10.1128/MCB.18.11.6641]
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Osborne, L. R., Campbell, T., Daradich, A., Scherer, S. W., Tsui, L.-C.
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<strong>Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.</strong>
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Genomics 57: 279-284, 1999.
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[PubMed: 10198167]
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[Full Text: https://doi.org/10.1006/geno.1999.5784]
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<li>
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<p class="mim-text-font">
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Palmer, S. J., Santucci, N., Widagdo, J., Bontempo, S. J., Taylor, K. M., Tay, E. S. E., Hook, J., Lemckert, F., Gunning, P. W., Hardeman, E. C.
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<strong>Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.</strong>
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J. Biol. Chem. 285: 4715-4724, 2010.
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[PubMed: 20007321]
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[Full Text: https://doi.org/10.1074/jbc.M109.086660]
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Ring, C, Ogata, S., Meek, L., Song, J., Ohta, T., Miyazono, K., Cho, K. W.
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<strong>The role of a Williams-Beuren syndrome-associated helix-loop-helix domain-containing transcription factor in activin/nodal signaling.</strong>
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Genes Dev. 16: 820-835, 2002.
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[PubMed: 11937490]
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[Full Text: https://doi.org/10.1101/gad.963802]
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Tassabehji, M., Carette, M., Wilmot, C., Donnai, D., Read, A. P., Metcalfe, K.
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<strong>A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.</strong>
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Europ. J. Hum. Genet. 7: 737-747, 1999.
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[PubMed: 10573005]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200396]
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Tassabehji, M., Hammond, P., Karmiloff-Smith, A., Thompson, P., Thorgeirsson, S. S., Durkin, M. E., Popescu, N. C., Hutton, T., Metcalfe, K., Rucka, A., Stewart, H., Read, A. P., Maconochie, M., Donnai, D.
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<strong>GTF2IRD1 in craniofacial development of humans and mice.</strong>
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Science 310: 1184-1187, 2005.
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[PubMed: 16293761]
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[Full Text: https://doi.org/10.1126/science.1116142]
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<p class="mim-text-font">
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Vullhorst, D., Buonanno, A.
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<strong>Characterization of general transcription factor 3, a transcription factor involved in slow muscle-specific gene expression.</strong>
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J Biol. Chem. 278: 8370-8379, 2003.
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[PubMed: 12475981]
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[Full Text: https://doi.org/10.1074/jbc.M209361200]
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<p class="mim-text-font">
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Yan, X, Zhao, X., Qian, M., Guo, N, Gong, X., Zhu, X.
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<strong>Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I.</strong>
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Biochem. J. 345: 749-757, 2000.
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[PubMed: 10642537]
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 1/26/2012<br>Ada Hamosh - updated : 1/30/2006<br>Patricia A. Hartz - updated : 5/8/2003<br>Carol A. Bocchini - updated : 12/7/1999
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Victor A. McKusick : 11/29/1999
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