3966 lines
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Entry
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- *107580 - TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*107580</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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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<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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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/107580">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000137203;t=ENST00000379613" 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=7020" 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=107580" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000137203;t=ENST00000379613" 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_001032280,NM_001042425,NM_001372066" 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_001372066" 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=107580" 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=00128&isoform_id=00128_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/TFAP2A" 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/28718,135302,178703,178705,1504086,6143593,20384777,22450882,73760407,109389358,119575652,119575653,119575654,119575655,221041490,225548304,1720121884" 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/P05549" 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=7020" 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=ENSG00000137203;t=ENST00000379613" 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=TFAP2A" 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=TFAP2A" 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+7020" 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/TFAP2A" 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:7020" 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/7020" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr6&hgg_gene=ENST00000379613.10&hgg_start=10396677&hgg_end=10419659&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/tfap2a" 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=107580[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=107580[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/TFAP2A/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/ENSG00000137203" 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=TFAP2A" 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=TFAP2A" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=TFAP2A" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=TFAP2A&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/PA36459" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:11742" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0261953.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:104671" 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/TFAP2A#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:104671" 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/7020/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=7020" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00013383;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00013383 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00019424;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00019424 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-011212-6" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=TFAP2A&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 449821007<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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107580
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
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AP2<br />
|
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ACTIVATING ENHANCER-BINDING PROTEIN 2-ALPHA<br />
|
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AP2 TRANSCRIPTION FACTOR; AP2TF<br />
|
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TFAP2
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TFAP2A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TFAP2A</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/6/50?start=-3&limit=10&highlight=50">6p24.3</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:10396677-10419659&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">6:10,396,677-10,419,659</a> </span>
|
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/50?start=-3&limit=10&highlight=50">
|
|
6p24.3
|
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</a>
|
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</span>
|
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</td>
|
|
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|
|
|
<td>
|
|
<span class="mim-font">
|
|
Branchiooculofacial syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/113620"> 113620 </a>
|
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/107580" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/107580" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
|
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</div>
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<p>AP2-alpha is a 52-kD retinoic acid-inducible and developmentally regulated activator of transcription that binds to a consensus DNA-binding sequence CCCCAGGC in the SV40 and metallothionein (<a href="/entry/156350">156350</a>) promoters (<a href="#13" class="mim-tip-reference" title="Mitchell, P. J., Wang, C., Tjian, R. <strong>Positive and negative regulation of transcription in vitro: enhancer-binding protein AP-2 is inhibited by SV40 T antigen.</strong> Cell 50: 847-861, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3040262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3040262</a>] [<a href="https://doi.org/10.1016/0092-8674(87)90512-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3040262">Mitchell et al., 1987</a>; <a href="#19" class="mim-tip-reference" title="Williams, T., Admon, A., Luscher, B., Tjian, R. <strong>Cloning and expression of AP-2, a cell-type-specific transcription factor that activates inducible enhancer elements.</strong> Genes Dev. 2: 1557-1569, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3063603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3063603</a>] [<a href="https://doi.org/10.1101/gad.2.12a.1557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3063603">Williams et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3040262+3063603" 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="#19" class="mim-tip-reference" title="Williams, T., Admon, A., Luscher, B., Tjian, R. <strong>Cloning and expression of AP-2, a cell-type-specific transcription factor that activates inducible enhancer elements.</strong> Genes Dev. 2: 1557-1569, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3063603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3063603</a>] [<a href="https://doi.org/10.1101/gad.2.12a.1557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3063603">Williams et al. (1988)</a> isolated and characterized human TFAP2A, which they designated AP2, encoding a 436-amino acid protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3063603" 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="Buettner, R., Kannan, P., Imhof, A., Bauer, R., Yim, S. O., Glockshuber, R., Van Dyke, M. W., Tainsky, M. A. <strong>An alternatively spliced mRNA from the AP-2 gene encodes a negative regulator of transcriptional activation by AP-2.</strong> Molec. Cell. Biol. 13: 4174-4185, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8321221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8321221</a>] [<a href="https://doi.org/10.1128/mcb.13.7.4174-4185.1993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8321221">Buettner et al. (1993)</a> described an alternatively spliced form of AP2 that does not bind the AP2 consensus site and strongly inhibits binding of endogenous AP2, thus acting as a dominant-negative inhibitor. <a href="#8" class="mim-tip-reference" title="Gestri, G., Osborne, R. J., Wyatt, A. W., Gerrelli, D., Gribble, S., Stewart, H., Fryer, A., Bunyan, D. J., Prescott, K., Collin, J. R. O., Fitzgerald, T., Robinson, D., Carter, N. P., Wilson, S. W., Ragge, N. K. <strong>Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.</strong> Hum. Genet. 126: 791-803, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19685247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19685247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19685247[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/10.1007/s00439-009-0730-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19685247">Gestri et al. (2009)</a> noted that alternative splicing of exon 5a results in a TFAP2A isoform of 365 amino acids with an alternative C-terminal sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8321221+19685247" 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="Gestri, G., Osborne, R. J., Wyatt, A. W., Gerrelli, D., Gribble, S., Stewart, H., Fryer, A., Bunyan, D. J., Prescott, K., Collin, J. R. O., Fitzgerald, T., Robinson, D., Carter, N. P., Wilson, S. W., Ragge, N. K. <strong>Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.</strong> Hum. Genet. 126: 791-803, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19685247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19685247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19685247[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/10.1007/s00439-009-0730-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19685247">Gestri et al. (2009)</a> analyzed TFAP2A expression in mouse and human embryos and human fetal stage F2. Expression in the mouse was seen in the nasal process, palate, and within the CNS. During human embryonic development, TFAP2A was first seen in the anterior epithelium of the lens at cleavage stage (CS) 15. At CS18, TFAP2A was expressed more strongly in the anterior epithelium of the lens and also in the ganglion layer of the neural retina, and at CS22, in the equatorial region of the lens epithelium, secondary lens fibers, and throughout the ganglion cell layer of the neural retina. TFAP2A expression was still visible but weaker in the retina of F2 human eyes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19685247" 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="Bauer, R., Imhof, A., Pscherer, A., Kopp, H., Moser, M., Seegers, S., Kerscher, M., Tainsky, M. A., Hofstaedter, F., Buettner, R. <strong>The genomic structure of the human AP-2 transcription factor.</strong> Nucleic Acids Res. 22: 1413-1420, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8190633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8190633</a>] [<a href="https://doi.org/10.1093/nar/22.8.1413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8190633">Bauer et al. (1994)</a> described the genomic organization of the TFAP2A gene, including the promoter. The mature AP2 mRNA is spliced from 7 exons distributed over 18 kb of genomic DNA. They demonstrated that the promoter of the AP2TF gene is subject to positive autoregulation by its own gene product. A consensus AP2 binding site was located at position -622 with respect to the ATG initiation codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8190633" 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="Gestri, G., Osborne, R. J., Wyatt, A. W., Gerrelli, D., Gribble, S., Stewart, H., Fryer, A., Bunyan, D. J., Prescott, K., Collin, J. R. O., Fitzgerald, T., Robinson, D., Carter, N. P., Wilson, S. W., Ragge, N. K. <strong>Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.</strong> Hum. Genet. 126: 791-803, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19685247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19685247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19685247[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/10.1007/s00439-009-0730-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19685247">Gestri et al. (2009)</a> noted that TFAP2A has 3 alternative transcription start sites designated exons 1a, 1b, and 1c as well as an alternative exon 5a. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19685247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By analysis of somatic cell hybrids and in situ hybridization to chromosomes, <a href="#7" class="mim-tip-reference" title="Gaynor, R. B., Muchardt, C., Xia, Y., Klisak, I., Mohandas, T., Sparkes, R. S., Lusis, A. J. <strong>Localization of the gene for the DNA-binding protein AP-2 to human chromosome 6p22.3-pter.</strong> Genomics 10: 1100-1102, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1916817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1916817</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90209-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1916817">Gaynor et al. (1991)</a> mapped the TFAP2A gene to chromosome 6p24-p22.3. <a href="#20" class="mim-tip-reference" title="Williamson, J. A., Bosher, J. M., Skinner, A., Sheer, D., Williams, T., Hurst, H. C. <strong>Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors.</strong> Genomics 35: 262-264, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661133</a>] [<a href="https://doi.org/10.1006/geno.1996.0351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661133">Williamson et al. (1996)</a> identified 2 other members of this gene family, AP2-beta (TFAP2B; <a href="/entry/601601">601601</a>) and AP2-gamma (TFAP2C; <a href="/entry/601602">601602</a>). Using FISH, <a href="#18" class="mim-tip-reference" title="Warren, G., Gordon, M., Siracusa, L. D., Buchberg, A. M., Williams, T. <strong>Physical and genetic localization of the gene encoding the AP-2 transcription factor to mouse chromosome 13.</strong> Genomics 31: 234-237, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8824807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8824807</a>] [<a href="https://doi.org/10.1006/geno.1996.0037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8824807">Warren et al. (1996)</a> mapped the homologous mouse gene, Tcfap2a, to chromosome 13A5-B1. <a href="#20" class="mim-tip-reference" title="Williamson, J. A., Bosher, J. M., Skinner, A., Sheer, D., Williams, T., Hurst, H. C. <strong>Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors.</strong> Genomics 35: 262-264, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661133</a>] [<a href="https://doi.org/10.1006/geno.1996.0351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661133">Williamson et al. (1996)</a> obtained human and mouse genomic clones for AP2-alpha and used FISH to confirm the location of the gene to human chromosome 6p24 and to mouse 13A5-B1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8824807+8661133+1916817" 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="Davies, A. F., Mirza, G., Flinter, F., Ragoussis, J. <strong>An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2-alpha that affects anterior eye chamber development.</strong> J. Med. Genet. 36: 708-710, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507730</a>]" pmid="10507730">Davies et al. (1999)</a> reported a child with microphthalmia and corneal clouding and a number of other dysmorphic features, including hypertelorism, micrognathia, dysplastic ears, thin limbs, and congenital cardiac defects. This child had an interstitial deletion of 6p25-p24 that included AP2-alpha. <a href="#5" class="mim-tip-reference" title="Davies, A. F., Mirza, G., Flinter, F., Ragoussis, J. <strong>An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2-alpha that affects anterior eye chamber development.</strong> J. Med. Genet. 36: 708-710, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507730</a>]" pmid="10507730">Davies et al. (1999)</a> suggested that AP2-alpha may be involved in anterior eye chamber development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10507730" 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="#24" class="mim-tip-reference" title="Zhu, C.-H., Huang, Y., Broman, M. T., Domann, F. E. <strong>Expression of AP-2-alpha in SV40 immortalized human lung fibroblasts is associated with a distinct pattern of cytosine methylation in the AP-2-alpha promoter.</strong> Biochim. Biophys. Acta 1519: 85-91, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11406275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11406275</a>] [<a href="https://doi.org/10.1016/s0167-4781(01)00227-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11406275">Zhu et al. (2001)</a> found that SV40 transformation of human lung fibroblast cell lines was associated with cytosine methylation of the AP2-alpha promoter at 2 sites, including the KLF12 (<a href="/entry/607531">607531</a>)-binding site. They concluded that hypermethylation at the KLF12 site would tend to relieve KLF12-mediated suppression of AP2 promoter activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11406275" 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 deletion analysis of the 5-prime-flanking region of the TFAP2A gene, <a href="#4" class="mim-tip-reference" title="Cheng, Y.-H., Handwerger, S. <strong>Identification of an enhancer of the human activating protein-2-alpha gene that contains a critical Ets1 binding site.</strong> J. Clin. Endocr. Metab. 88: 3305-3311, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12843180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12843180</a>] [<a href="https://doi.org/10.1210/jc.2002-021831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12843180">Cheng and Handwerger (2003)</a> determined that the proximal 152 bp are essential for minimal promoter activity and that a 140-bp fragment from nucleotides -1279 to -1139 acts as an enhancer of basal transcriptional activity. Ligation of the 140-bp fragment to a minimal TFAP2A promoter or a heterologous simian virus 40 promoter luciferase reporter plasmid conferred enhancer activity in trophoblast cells. In deoxyribonuclease I footprint studies, nuclear extracts from trophoblast cells protected 2 regions of the 140-bp fragment, E2 and E3. Site-directed mutagenesis of an ETS1 (<a href="/entry/164720">164720</a>)-binding site in E2 significantly inhibited TFAP2A enhancer activity. Gel shift and supershift assays indicated that ETS1 binds to the ETS site in E2, and overexpression of ETS1 in transfection studies induced TFAP2A promoter activity. As the transcription factor ETS1 is abundant in trophoblast cells, <a href="#4" class="mim-tip-reference" title="Cheng, Y.-H., Handwerger, S. <strong>Identification of an enhancer of the human activating protein-2-alpha gene that contains a critical Ets1 binding site.</strong> J. Clin. Endocr. Metab. 88: 3305-3311, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12843180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12843180</a>] [<a href="https://doi.org/10.1210/jc.2002-021831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12843180">Cheng and Handwerger (2003)</a> concluded that these investigations strongly suggested that TFAP2A gene expression in the placenta is enhanced by a cis-acting element at nucleotides -1279 to -1139 that contains a critical ETS1-binding site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12843180" 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="#22" class="mim-tip-reference" title="Zarelli, V. E., Dawid, I. B. <strong>Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.</strong> Proc. Nat. Acad. Sci. 110: 2870-2875, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23382213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23382213</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23382213[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.1300203110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23382213">Zarelli and Dawid (2013)</a> found that human and zebrafish KCTD15 (<a href="/entry/615240">615240</a>) inhibited AP2-alpha-dependent expression of a reporter gene. KCTD15 did not prevent AP2-alpha dimer formation or binding of AP2-alpha to chromatin. KCTD15 directly bound a proline-rich region in the N-terminal activation domain of zebrafish AP2-alpha. Mutation of pro59 within this region inhibited KCTD15 binding, but it had no effect on DNA binding by AP2-alpha or AP2-alpha transactivation activity. KCTD15 inhibited AP2-alpha-dependent expression of neural crest markers in Xenopus animal cap assays. <a href="#22" class="mim-tip-reference" title="Zarelli, V. E., Dawid, I. B. <strong>Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.</strong> Proc. Nat. Acad. Sci. 110: 2870-2875, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23382213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23382213</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23382213[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.1300203110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23382213">Zarelli and Dawid (2013)</a> concluded that KCTD15 is a negative regulator of AP2-alpha that regulates neural crest formation during embryonic development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23382213" 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="#14" class="mim-tip-reference" title="Montagnac, G., Meas-Yedid, V., Irondelle, M., Castro-Castro, A., Franco, M., Shida, T., Nachury, M. V., Benmerah, A., Olivo-Marin, J.-C., Chavrier, P. <strong>Alpha-TAT1 catalyses microtubule acetylation at clathrin-coated pits.</strong> Nature 502: 567-570, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24097348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24097348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24097348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12571" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24097348">Montagnac et al. (2013)</a> reported that clathrin-coated pits control microtubule acetylation through a direct interaction of alpha-tubulin acetyltransferase (ATAT1; <a href="/entry/615556">615556</a>) with the clathrin adaptor AP2. <a href="#14" class="mim-tip-reference" title="Montagnac, G., Meas-Yedid, V., Irondelle, M., Castro-Castro, A., Franco, M., Shida, T., Nachury, M. V., Benmerah, A., Olivo-Marin, J.-C., Chavrier, P. <strong>Alpha-TAT1 catalyses microtubule acetylation at clathrin-coated pits.</strong> Nature 502: 567-570, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24097348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24097348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24097348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12571" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24097348">Montagnac et al. (2013)</a> observed that about one-third of growing microtubule ends contact and pause at clathrin-coated pits and that loss of clathrin-coated pits decreases lys40 acetylation levels. <a href="#14" class="mim-tip-reference" title="Montagnac, G., Meas-Yedid, V., Irondelle, M., Castro-Castro, A., Franco, M., Shida, T., Nachury, M. V., Benmerah, A., Olivo-Marin, J.-C., Chavrier, P. <strong>Alpha-TAT1 catalyses microtubule acetylation at clathrin-coated pits.</strong> Nature 502: 567-570, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24097348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24097348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24097348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12571" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24097348">Montagnac et al. (2013)</a> showed that ATAT1 localizes to clathrin-coated pits through a direct interaction with AP2 that is required for microtubule acetylation. In migrating cells, the polarized orientation of acetylated microtubules correlates with clathrin-coated pit accumulation at the leading edge, and interaction of ATAT1 with AP2 is required for directional migration. <a href="#14" class="mim-tip-reference" title="Montagnac, G., Meas-Yedid, V., Irondelle, M., Castro-Castro, A., Franco, M., Shida, T., Nachury, M. V., Benmerah, A., Olivo-Marin, J.-C., Chavrier, P. <strong>Alpha-TAT1 catalyses microtubule acetylation at clathrin-coated pits.</strong> Nature 502: 567-570, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24097348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24097348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24097348[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature12571" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24097348">Montagnac et al. (2013)</a> concluded that microtubules contacting clathrin-coated pits become acetylated by ATAT1. In migrating cells, this mechanism ensures the acetylation of microtubules oriented toward the leading edge, thus promoting directional cell locomotion and chemotaxis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24097348" 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="#21" class="mim-tip-reference" title="Ye, J., Tucker, N. R., Weng, L.-C., Clauss, S., Lubitz, S. A., Ellinor, P. T. <strong>A functional variant associated with atrial fibrillation regulates PITX2c expression through TFAP2a.</strong> Am. J. Hum. Genet. 99: 1281-1291, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27866707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27866707</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.10.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27866707">Ye et al. (2016)</a> noted that TFAP2A transcriptionally regulates PITX2c (see <a href="/entry/601542">601542</a>), the dominant PITX2 isoform in the developing and adult left atrium. They identified a SNP in PITX2, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2595104;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2595104</a>, that lies in an enhancer region approximately 10 kb upstream of the PITX2c transcription site, and that TFAP2A binds PITX2 at the site of the SNP. They also showed that CITED2 (<a href="/entry/602937">602937</a>), a TFAP2A binding partner that had been implicated in synergistic regulation of PITX2c, was differentially recruited to <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2595104;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2595104</a>. <a href="#21" class="mim-tip-reference" title="Ye, J., Tucker, N. R., Weng, L.-C., Clauss, S., Lubitz, S. A., Ellinor, P. T. <strong>A functional variant associated with atrial fibrillation regulates PITX2c expression through TFAP2a.</strong> Am. J. Hum. Genet. 99: 1281-1291, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27866707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27866707</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.10.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27866707">Ye et al. (2016)</a> showed that binding of TFAP2A at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2595104;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2595104</a>, and interaction with CITED2, regulate PITX2c in human cardiomyocytes, and suggested that this pathway could influence susceptibility to atrial fibrillation at the 4q25 locus (ATFB5; <a href="/entry/611494">611494</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27866707" 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="#12" class="mim-tip-reference" title="Milunsky, J. M., Maher, T. A., Zhao, G., Roberts, A. E., Stalker, H. J., Zori, R. T., Burch, M. N., Clemens, M., Mulliken, J. B., Smith, R., Lin, A. E. <strong>TFAP2A mutations result in branchio-oculo-facial syndrome.</strong> Am. J. Hum. Genet. 82: 1171-1177, 2008. Note: Erratum: Am. J. Hum. Genet. 84: 301 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18423521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18423521</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18423521[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/10.1016/j.ajhg.2008.03.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18423521">Milunsky et al. (2008)</a> studied a mother and son with branchiooculofacial syndrome (BOFS; <a href="/entry/113620">113620</a>) and detected a 3.2-Mb deletion at chromosome 6p24.3. Sequencing of candidate genes in that region in 4 additional unrelated BOFS patients revealed 4 different de novo missense mutations in the highly conserved exons 4 and 5 of the TFAP2A gene (see, e.g., <a href="#0001">107580.0001</a> and <a href="#0002">107580.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18423521" 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="Gestri, G., Osborne, R. J., Wyatt, A. W., Gerrelli, D., Gribble, S., Stewart, H., Fryer, A., Bunyan, D. J., Prescott, K., Collin, J. R. O., Fitzgerald, T., Robinson, D., Carter, N. P., Wilson, S. W., Ragge, N. K. <strong>Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.</strong> Hum. Genet. 126: 791-803, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19685247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19685247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19685247[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/10.1007/s00439-009-0730-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19685247">Gestri et al. (2009)</a> analyzed the TFAP2A gene in 37 patients with developmental eye defects plus variable defects associated with BOFS and identified 2 heterozygous mutations in 2 patients (<a href="#0003">107580.0003</a> and <a href="#0004">107580.0004</a>, respectively). In addition, multiplex ligation-dependent probe amplification (MPLA) revealed a heterozygous deletion of the TFAP2A gene in 2 sibs with BOFS and their mildly affected father, previously reported by <a href="#6" class="mim-tip-reference" title="Fielding, D. W., Fryer, A. E. <strong>Recurrence of orbital cysts in the branchio-oculo-facial syndrome.</strong> J. Med. Genet. 29: 430-431, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1619642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1619642</a>] [<a href="https://doi.org/10.1136/jmg.29.6.430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1619642">Fielding and Fryer (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1619642+19685247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 4-year-old Turkish girl with sensorineural hearing loss and features of BOFS, <a href="#17" class="mim-tip-reference" title="Tekin, M., Sirmaci, A., Yuksel-Konuk, B., Fitoz, S., Sennaroglu, L. <strong>A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.</strong> Am. J. Med. Genet. 149A: 427-430, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19206157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19206157</a>] [<a href="https://doi.org/10.1002/ajmg.a.32619" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19206157">Tekin et al. (2009)</a> identified a heterozygous deletion/insertion mutation in the TFAP2A gene (<a href="#0005">107580.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19206157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 families and 3 sporadic patients with BOFS, <a href="#15" class="mim-tip-reference" title="Reiber, J., Sznajer, Y., Posteguillo, E. G., Muller, D., Lyonnet, S., Baumann, C., Just, W. <strong>Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.</strong> Am. J. Med. Genet. 152A: 994-999, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358615</a>] [<a href="https://doi.org/10.1002/ajmg.a.33331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358615">Reiber et al. (2010)</a> identified 4 heterozygous mutations, all within the highly conserved exons 4 through 6 of the TFAP2A gene, respectively (see, e.g., <a href="#0001">107580.0001</a> and <a href="#0006">107580.0006</a>-<a href="#0007">107580.0007</a>). The authors noted that these exons are almost free of any single-nucleotide polymorphisms and are evolutionarily highly conserved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20358615" 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>For discussion of a possible role of TFAP2A in cleft lip/palate, see CLP1 (<a href="/entry/119530">119530</a>).</p>
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<p>To study the role of AP2 during embryogenesis, <a href="#16" class="mim-tip-reference" title="Schorle, H., Meier, P., Buchert, M., Jaenisch, R., Mitchell, P. J. <strong>Transcription factor AP-2 essential for cranial closure and craniofacial development.</strong> Nature 381: 235-238, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8622765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8622765</a>] [<a href="https://doi.org/10.1038/381235a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8622765">Schorle et al. (1996)</a> undertook a targeted mutagenesis of the Ap2 gene in the mouse. They reported that Ap2 -/- mice died perinatally with cranioabdominoschisis and severe dysmorphogenesis of the face, skull, sensory organs, and cranial ganglia. Failure of cranial closure between days 9 and 9.5 postcoitum coincided with increased apoptosis in the midbrain, anterior hindbrain, and proximal mesenchyme of the first branchial arch, but did not involve loss of expression of 'Twist' (<a href="/entry/601622">601622</a>) or Pax3 (<a href="/entry/606597">606597</a>), 2 other regulatory genes known to be required for cranial closure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8622765" 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>Homozygous knockout mice for Ap2-alpha were shown by <a href="#23" class="mim-tip-reference" title="Zhang, J., Hagopian-Donaldson, S., Serbedzija, G., Elsemore, J., Plehn-Dujowich, D., McMahon, A. P., Flavell, R. A., Williams, T. <strong>Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2.</strong> Nature 381: 238-241, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8622766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8622766</a>] [<a href="https://doi.org/10.1038/381238a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8622766">Zhang et al. (1996)</a> to have observable neural tube defects at day 9.5 which were followed by craniofacial and body wall abnormalities later in embryogenesis. This is consistent with the developmental expression of AP2-alpha in tissues of ectodermal origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8622766" 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="Lim, J. H., Booker, A. B., Luo, T., Williams, T., Furuta, Y., Lagutin, O., Oliver, G., Sargent, T. D., Fallon, J. R. <strong>AP-2-alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development.</strong> Hum. Molec. Genet. 14: 2027-2034, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930016</a>] [<a href="https://doi.org/10.1093/hmg/ddi207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15930016">Lim et al. (2005)</a> tested the role of the transcription factor AP2-alpha in regulating Fmr1 (<a href="/entry/309550">309550</a>) expression. Chromatin immunoprecipitation showed that AP2-alpha associated with the Fmr1 promoter in vivo. Fmr1 transcript levels were reduced approximately 4-fold in homozygous null AP2-alpha mutant mice at embryonic day 18.5 when compared with normal littermates. AP2-alpha exhibited a strong gene dosage effect, with heterozygous mice showing a approximately 2-fold reduction in Fmr1 levels. Examination of conditional AP2-alpha mutant mice indicated that the transcription factor played a major role in regulating Fmr1 expression in embryos, but not in adults. Overexpression of a dominant-negative AP2-alpha in Xenopus embryos led to reduced Fmr1 levels. Exogenous wildtype AP2-alpha rescued Fmr1 expression in embryos where endogenous AP2-alpha had been suppressed. <a href="#9" class="mim-tip-reference" title="Lim, J. H., Booker, A. B., Luo, T., Williams, T., Furuta, Y., Lagutin, O., Oliver, G., Sargent, T. D., Fallon, J. R. <strong>AP-2-alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development.</strong> Hum. Molec. Genet. 14: 2027-2034, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930016</a>] [<a href="https://doi.org/10.1093/hmg/ddi207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15930016">Lim et al. (2005)</a> concluded that AP2-alpha associates with the Fmr1 promoter in vivo and selectively regulates Fmr1 transcription during embryonic development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15930016" 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>After morpholino knockdown of tfap2a function in zebrafish, <a href="#8" class="mim-tip-reference" title="Gestri, G., Osborne, R. J., Wyatt, A. W., Gerrelli, D., Gribble, S., Stewart, H., Fryer, A., Bunyan, D. J., Prescott, K., Collin, J. R. O., Fitzgerald, T., Robinson, D., Carter, N. P., Wilson, S. W., Ragge, N. K. <strong>Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.</strong> Hum. Genet. 126: 791-803, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19685247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19685247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19685247[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/10.1007/s00439-009-0730-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19685247">Gestri et al. (2009)</a> observed a range of eye anomalies, which were frequently asymmetric and included microphthalmia, mild coloboma, and severe coloboma in which ventral retinal tissue, including retinal pigment epithelium, protruded from the back of the eye towards the midline of the brain. Pharyngeal cartilages were also affected in tfap2a morphants with the ceratohyal reduced in size and oriented medially instead of rostrally. Less severe defects were seen in more posterior arches. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19685247" 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="Bassett, E. A., Williams, T., Zacharias, A. L., Gage, P. J., Fuhrmann, S., West-Mays, J. A. <strong>AP-2-alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis.</strong> Hum. Molec. Genet. 19: 1791-1804, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20150232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20150232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20150232[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddq060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20150232">Bassett et al. (2010)</a> showed that patterning and morphogenetic defects in the Ap2-alpha knockout optic neuroepithelium began at the optic vesicle stage. During subsequent optic cup formation, ectopic neural retina and optic stalk-like tissue replaced regions of retinal pigment epithelium. Ap2-alpha knockout eyes also displayed coloboma in the ventral retina, and a rare phenotype in which the optic stalk completely failed to extend, causing the optic cups to be drawn inward to the midline. There was increased sonic hedgehog (SHH; <a href="/entry/600725">600725</a>) signaling in the Ap2-alpha knockout forebrain neuroepithelium, which likely contributed to multiple aspects of the ocular phenotype, including expansion of Pax2 (<a href="/entry/167409">167409</a>)-positive optic stalk-like tissue into the optic cup. The authors suggested that loss of AP2-alpha in multiple tissues in the craniofacial region leads to severe optic cup and optic stalk abnormalities by disturbing the tissue-tissue interactions required for ocular development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20150232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121909574 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909574;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121909574?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121909574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an 18-year-old man with branchiooculofacial syndrome (BOFS; <a href="/entry/113620">113620</a>), previously studied by <a href="#11" class="mim-tip-reference" title="Lin, A. E., Semina, E. V., Daack-Hirsch, S., Roeder, E. R., Curry, C. J. R., Rosenbaum, K., Weaver, D. D., Murray, J. C. <strong>Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.</strong> Am. J. Med. Genet. 91: 387-390, 2000. Note: Erratum: Am. J. Med. Genet. 93: 169 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10767004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10767004</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000424)91:5<387::aid-ajmg13>3.0.co;2-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10767004">Lin et al. (2000)</a>, <a href="#12" class="mim-tip-reference" title="Milunsky, J. M., Maher, T. A., Zhao, G., Roberts, A. E., Stalker, H. J., Zori, R. T., Burch, M. N., Clemens, M., Mulliken, J. B., Smith, R., Lin, A. E. <strong>TFAP2A mutations result in branchio-oculo-facial syndrome.</strong> Am. J. Hum. Genet. 82: 1171-1177, 2008. Note: Erratum: Am. J. Hum. Genet. 84: 301 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18423521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18423521</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18423521[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/10.1016/j.ajhg.2008.03.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18423521">Milunsky et al. (2008)</a> identified a de novo 10529A-G transition in exon 4 of the TFAP2A gene, resulting in an arg255-to-gly (R255G) substitution at a highly conserved residue in the basic region of the DNA-binding domain, a change that replaces a charged polar side chain with a nonpolar side chain with a predicted conformational space change. The mutation was not found in more than 300 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18423521+10767004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mother and daughter with BOFS, as well as an unrelated sporadic BOFS patient, <a href="#15" class="mim-tip-reference" title="Reiber, J., Sznajer, Y., Posteguillo, E. G., Muller, D., Lyonnet, S., Baumann, C., Just, W. <strong>Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.</strong> Am. J. Med. Genet. 152A: 994-999, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358615</a>] [<a href="https://doi.org/10.1002/ajmg.a.33331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358615">Reiber et al. (2010)</a> identified heterozygosity for the R255G mutation in the TFAP2A gene. Noting that R255G had been found in 3 of 11 unrelated mutation-positive patients, <a href="#15" class="mim-tip-reference" title="Reiber, J., Sznajer, Y., Posteguillo, E. G., Muller, D., Lyonnet, S., Baumann, C., Just, W. <strong>Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.</strong> Am. J. Med. Genet. 152A: 994-999, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358615</a>] [<a href="https://doi.org/10.1002/ajmg.a.33331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358615">Reiber et al. (2010)</a> suggested that it might represent a recurrent mutation causing BOFS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20358615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 17-year-old man with branchiooculofacial syndrome (BOFS; <a href="/entry/113620">113620</a>), previously studied by <a href="#11" class="mim-tip-reference" title="Lin, A. E., Semina, E. V., Daack-Hirsch, S., Roeder, E. R., Curry, C. J. R., Rosenbaum, K., Weaver, D. D., Murray, J. C. <strong>Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.</strong> Am. J. Med. Genet. 91: 387-390, 2000. Note: Erratum: Am. J. Med. Genet. 93: 169 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10767004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10767004</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000424)91:5<387::aid-ajmg13>3.0.co;2-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10767004">Lin et al. (2000)</a>, <a href="#12" class="mim-tip-reference" title="Milunsky, J. M., Maher, T. A., Zhao, G., Roberts, A. E., Stalker, H. J., Zori, R. T., Burch, M. N., Clemens, M., Mulliken, J. B., Smith, R., Lin, A. E. <strong>TFAP2A mutations result in branchio-oculo-facial syndrome.</strong> Am. J. Hum. Genet. 82: 1171-1177, 2008. Note: Erratum: Am. J. Hum. Genet. 84: 301 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18423521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18423521</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18423521[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/10.1016/j.ajhg.2008.03.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18423521">Milunsky et al. (2008)</a> identified a de novo 12448C-T transition in exon 5 of the TFAP2A gene, resulting in an gly262-to-glu (G262E) substitution at a highly conserved residue in the basic region of the DNA-binding domain, a change that replaces a nonpolar side chain with a charged polar side chain. The mutation was not found in more than 300 controls. <a href="#12" class="mim-tip-reference" title="Milunsky, J. M., Maher, T. A., Zhao, G., Roberts, A. E., Stalker, H. J., Zori, R. T., Burch, M. N., Clemens, M., Mulliken, J. B., Smith, R., Lin, A. E. <strong>TFAP2A mutations result in branchio-oculo-facial syndrome.</strong> Am. J. Hum. Genet. 82: 1171-1177, 2008. Note: Erratum: Am. J. Hum. Genet. 84: 301 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18423521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18423521</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18423521[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/10.1016/j.ajhg.2008.03.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18423521">Milunsky et al. (2008)</a> stated that this was the first BOFS patient reported with medulloblastoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18423521+10767004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 5-year-old boy with branchiooculofacial syndrome (BOFS; <a href="/entry/113620">113620</a>), <a href="#8" class="mim-tip-reference" title="Gestri, G., Osborne, R. J., Wyatt, A. W., Gerrelli, D., Gribble, S., Stewart, H., Fryer, A., Bunyan, D. J., Prescott, K., Collin, J. R. O., Fitzgerald, T., Robinson, D., Carter, N. P., Wilson, S. W., Ragge, N. K. <strong>Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.</strong> Hum. Genet. 126: 791-803, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19685247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19685247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19685247[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/10.1007/s00439-009-0730-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19685247">Gestri et al. (2009)</a> identified a de novo heterozygous 12-bp deletion (697del12) in the basic domain of the TFAP2A gene, resulting in deletion of 4 amino acids, from glu233 to arg236. The patient had classic features of BOFS, including high-arched palate, prominent philtrum, narrow ear canals, abnormal pinnae, and periorbital and scalp cysts. His eye findings included a right cystic remnant and mildly microphthalmic left eye with a reduced corneal diameter, iris coloboma, primary aphakia, and a large posterior chorioretinal coloboma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19685247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs113027487 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113027487;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs113027487?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs113027487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs113027487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001561919 OR RCV001713137" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001561919, RCV001713137" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001561919...</a>
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<p>In a 10-month-old female infant with severe eye defects but a nonclassic branchiooculofacial syndrome phenotype (BOFS; <a href="/entry/113620">113620</a>), <a href="#8" class="mim-tip-reference" title="Gestri, G., Osborne, R. J., Wyatt, A. W., Gerrelli, D., Gribble, S., Stewart, H., Fryer, A., Bunyan, D. J., Prescott, K., Collin, J. R. O., Fitzgerald, T., Robinson, D., Carter, N. P., Wilson, S. W., Ragge, N. K. <strong>Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.</strong> Hum. Genet. 126: 791-803, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19685247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19685247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19685247[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/10.1007/s00439-009-0730-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19685247">Gestri et al. (2009)</a> identified a heterozygous 956T-C transition in exon 5a the TFAP2A gene, resulting in a phe319-to-ser (F319S) substitution at a conserved residue in the alternatively spliced isoform of TFAP2A. The mutation, which was not found in 189 control samples, was inherited from her apparently unaffected father and segregated with polydactyly on the paternal side. The patient had right microphthalmia with sclerocornea, primary aphakia, and localized tractional retinal detachment, and an extremely microphthalmic left eye with sclerocornea. Her systemic features, which were not classic for BOFS, included atrial septal defect with an enlarged anomalous blood vessel draining into the right atrium, and facial capillary hemangioma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19685247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019534" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019534" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019534</a>
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<p>In a 4-year-old Turkish girl with sensorineural hearing loss and features of branchiooculofacial syndrome (BOFS; <a href="/entry/113620">113620</a>), <a href="#17" class="mim-tip-reference" title="Tekin, M., Sirmaci, A., Yuksel-Konuk, B., Fitoz, S., Sennaroglu, L. <strong>A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.</strong> Am. J. Med. Genet. 149A: 427-430, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19206157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19206157</a>] [<a href="https://doi.org/10.1002/ajmg.a.32619" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19206157">Tekin et al. (2009)</a> identified heterozygosity for a de novo 18-bp deletion and 6-bp insertion (828delCTGCCTGCAGGGAGACGTinsAGGATT) in exon 5 of the TFAP2A gene, resulting in insertion of arginine and isoleucine residues at codon 276. <a href="#17" class="mim-tip-reference" title="Tekin, M., Sirmaci, A., Yuksel-Konuk, B., Fitoz, S., Sennaroglu, L. <strong>A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.</strong> Am. J. Med. Genet. 149A: 427-430, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19206157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19206157</a>] [<a href="https://doi.org/10.1002/ajmg.a.32619" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19206157">Tekin et al. (2009)</a> stated that this mutation differed from those previously reported in BOFS patients without sensorineural hearing loss in that it involved both DNA-binding and dimerization domains; they suggested that the patient's inner ear malformation might be related to impaired dimerization of TFAP2A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19206157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607108 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607108;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019535" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019535" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019535</a>
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<p>In 5 affected members of a family with branchiooculofacial syndrome (BOFS; <a href="/entry/113620">113620</a>), originally reported by <a href="#10" class="mim-tip-reference" title="Lin, A. E., Gorlin, R. J., Lurie, I. W., Brunner, H. G., van der Burgt, I., Naumchik, I. V., Rumyantseva, N. V., Stengel-Rutkowski, S., Rosenbaum, K., Meinecke, P., Muller, D. <strong>Further delineation of the branchio-oculo-facial syndrome.</strong> Am. J. Med. Genet. 56: 42-59, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7747785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7747785</a>] [<a href="https://doi.org/10.1002/ajmg.1320560112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7747785">Lin et al. (1995)</a>, <a href="#15" class="mim-tip-reference" title="Reiber, J., Sznajer, Y., Posteguillo, E. G., Muller, D., Lyonnet, S., Baumann, C., Just, W. <strong>Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.</strong> Am. J. Med. Genet. 152A: 994-999, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358615</a>] [<a href="https://doi.org/10.1002/ajmg.a.33331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358615">Reiber et al. (2010)</a> identified heterozygosity for an 886G-A transition in exon 6 of the TFAP2A gene, resulting in a glu296-to-lys (E296K) substitution at a highly conserved residue. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7747785+20358615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs151344525 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs151344525;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs151344525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs151344525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019536 OR RCV000624658 OR RCV002472933" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019536, RCV000624658, RCV002472933" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019536...</a>
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<p>In a boy with mild branchiooculofacial syndrome (BOFS; <a href="/entry/113620">113620</a>) who had a pseudocleft lip consisting only of a philtral ridge, <a href="#15" class="mim-tip-reference" title="Reiber, J., Sznajer, Y., Posteguillo, E. G., Muller, D., Lyonnet, S., Baumann, C., Just, W. <strong>Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.</strong> Am. J. Med. Genet. 152A: 994-999, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358615</a>] [<a href="https://doi.org/10.1002/ajmg.a.33331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20358615">Reiber et al. (2010)</a> identified heterozygosity for a 710G-A transition in exon 4 of the TFAP2A gene, resulting in an arg237-to-gln (R237Q) substitution at a highly conserved residue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20358615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1128/mcb.13.7.4174-4185.1993" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1210/jc.2002-021831" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.29.6.430" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(91)90209-w" target="_blank">Full Text</a>]
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Gestri, G., Osborne, R. J., Wyatt, A. W., Gerrelli, D., Gribble, S., Stewart, H., Fryer, A., Bunyan, D. J., Prescott, K., Collin, J. R. O., Fitzgerald, T., Robinson, D., Carter, N. P., Wilson, S. W., Ragge, N. K.
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[<a href="https://doi.org/10.1007/s00439-009-0730-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddi207" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320560112" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10767004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10767004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10767004" 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/10.1002/(sici)1096-8628(20000424)91:5<387::aid-ajmg13>3.0.co;2-1" target="_blank">Full Text</a>]
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Milunsky, J. M., Maher, T. A., Zhao, G., Roberts, A. E., Stalker, H. J., Zori, R. T., Burch, M. N., Clemens, M., Mulliken, J. B., Smith, R., Lin, A. E.
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[<a href="https://doi.org/10.1016/j.ajhg.2008.03.005" target="_blank">Full Text</a>]
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Mitchell, P. J., Wang, C., Tjian, R.
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<strong>Positive and negative regulation of transcription in vitro: enhancer-binding protein AP-2 is inhibited by SV40 T antigen.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3040262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3040262</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3040262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(87)90512-5" target="_blank">Full Text</a>]
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<a id="Montagnac2013" class="mim-anchor"></a>
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<p class="mim-text-font">
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Montagnac, G., Meas-Yedid, V., Irondelle, M., Castro-Castro, A., Franco, M., Shida, T., Nachury, M. V., Benmerah, A., Olivo-Marin, J.-C., Chavrier, P.
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<strong>Alpha-TAT1 catalyses microtubule acetylation at clathrin-coated pits.</strong>
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Nature 502: 567-570, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24097348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24097348</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24097348[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=24097348" 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/nature12571" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Reiber2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20358615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20358615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20358615" 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/10.1002/ajmg.a.33331" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Schorle1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Transcription factor AP-2 essential for cranial closure and craniofacial development.</strong>
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Nature 381: 235-238, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8622765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8622765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8622765" 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/10.1038/381235a0" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Tekin2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tekin, M., Sirmaci, A., Yuksel-Konuk, B., Fitoz, S., Sennaroglu, L.
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<strong>A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19206157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19206157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19206157" 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/10.1002/ajmg.a.32619" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Warren1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Warren, G., Gordon, M., Siracusa, L. D., Buchberg, A. M., Williams, T.
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<strong>Physical and genetic localization of the gene encoding the AP-2 transcription factor to mouse chromosome 13.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8824807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8824807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8824807" 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.1996.0037" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Williams1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williams, T., Admon, A., Luscher, B., Tjian, R.
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<strong>Cloning and expression of AP-2, a cell-type-specific transcription factor that activates inducible enhancer elements.</strong>
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Genes Dev. 2: 1557-1569, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3063603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3063603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3063603" 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.2.12a.1557" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Williamson1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williamson, J. A., Bosher, J. M., Skinner, A., Sheer, D., Williams, T., Hurst, H. C.
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<strong>Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors.</strong>
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Genomics 35: 262-264, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8661133" 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.1996.0351" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
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<a id="Ye2016" class="mim-anchor"></a>
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Ye, J., Tucker, N. R., Weng, L.-C., Clauss, S., Lubitz, S. A., Ellinor, P. T.
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<strong>A functional variant associated with atrial fibrillation regulates PITX2c expression through TFAP2a.</strong>
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Am. J. Hum. Genet. 99: 1281-1291, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27866707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27866707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27866707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2016.10.001" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Zarelli2013" class="mim-anchor"></a>
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<div class="">
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Zarelli, V. E., Dawid, I. B.
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<strong>Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.</strong>
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Proc. Nat. Acad. Sci. 110: 2870-2875, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23382213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23382213</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23382213[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=23382213" 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.1300203110" target="_blank">Full Text</a>]
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<a id="Zhang1996" class="mim-anchor"></a>
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<div class="">
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Zhang, J., Hagopian-Donaldson, S., Serbedzija, G., Elsemore, J., Plehn-Dujowich, D., McMahon, A. P., Flavell, R. A., Williams, T.
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<strong>Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2.</strong>
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Nature 381: 238-241, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8622766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8622766</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8622766" 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/10.1038/381238a0" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Zhu2001" class="mim-anchor"></a>
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Zhu, C.-H., Huang, Y., Broman, M. T., Domann, F. E.
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<strong>Expression of AP-2-alpha in SV40 immortalized human lung fibroblasts is associated with a distinct pattern of cytosine methylation in the AP-2-alpha promoter.</strong>
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Biochim. Biophys. Acta 1519: 85-91, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11406275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11406275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11406275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0167-4781(01)00227-5" target="_blank">Full Text</a>]
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<br />
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 11/02/2018
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<span class="mim-text-font">
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Ada Hamosh - updated : 12/05/2013<br>Patricia A. Hartz - updated : 5/20/2013<br>George E. Tiller - updated : 12/1/2011<br>Marla J. F. O'Neill - updated : 10/19/2011<br>Marla J. F. O'Neill - updated : 12/1/2010<br>Marla J. F. O'Neill - updated : 8/27/2010<br>Marla J. F. O'Neill - updated : 8/25/2010<br>George E. Tiller - updated : 11/18/2008<br>Marla J. F. O'Neill - updated : 6/10/2008<br>John A. Phillips, III - updated : 8/6/2004<br>Patricia A. Hartz - updated : 1/27/2003<br>Victor A. McKusick - updated : 1/4/2002<br>Michael J. Wright - updated : 12/16/1999<br>Victor A. McKusick - updated : 3/3/1998<br>Alan F. Scott - updated : 1/3/1997
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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 : 2/28/1992
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alopez : 11/02/2018
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alopez : 12/05/2013<br>mgross : 5/20/2013<br>terry : 12/21/2012<br>alopez : 12/5/2011<br>terry : 12/1/2011<br>terry : 10/19/2011<br>wwang : 12/2/2010<br>terry : 12/1/2010<br>wwang : 9/1/2010<br>terry : 8/27/2010<br>wwang : 8/26/2010<br>terry : 8/25/2010<br>mgross : 1/19/2010<br>terry : 1/7/2010<br>carol : 12/14/2009<br>alopez : 2/27/2009<br>wwang : 11/18/2008<br>carol : 6/11/2008<br>carol : 6/11/2008<br>terry : 6/10/2008<br>alopez : 8/6/2004<br>mgross : 1/30/2003<br>terry : 1/27/2003<br>carol : 7/8/2002<br>carol : 7/8/2002<br>mcapotos : 1/9/2002<br>terry : 1/4/2002<br>alopez : 12/16/1999<br>alopez : 12/16/1999<br>dkim : 9/11/1998<br>dkim : 7/17/1998<br>alopez : 3/23/1998<br>terry : 3/3/1998<br>jenny : 1/7/1997<br>mark : 1/3/1997<br>terry : 1/2/1997<br>mark : 3/29/1996<br>mark : 3/18/1996<br>mark : 3/18/1996<br>terry : 3/6/1996<br>jason : 6/28/1994<br>supermim : 3/16/1992<br>carol : 2/28/1992
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<span class="mim-font">
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<strong>*</strong> 107580
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<div>
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<h3>
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<span class="mim-font">
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TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<h4>
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<span class="mim-font">
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AP2<br />
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ACTIVATING ENHANCER-BINDING PROTEIN 2-ALPHA<br />
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AP2 TRANSCRIPTION FACTOR; AP2TF<br />
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TFAP2
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</span>
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</h4>
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</div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TFAP2A</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 449821007;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<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: 6p24.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:10,396,677-10,419,659 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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6p24.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Branchiooculofacial syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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113620
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>AP2-alpha is a 52-kD retinoic acid-inducible and developmentally regulated activator of transcription that binds to a consensus DNA-binding sequence CCCCAGGC in the SV40 and metallothionein (156350) promoters (Mitchell et al., 1987; Williams et al., 1988). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Williams et al. (1988) isolated and characterized human TFAP2A, which they designated AP2, encoding a 436-amino acid protein. </p><p>Buettner et al. (1993) described an alternatively spliced form of AP2 that does not bind the AP2 consensus site and strongly inhibits binding of endogenous AP2, thus acting as a dominant-negative inhibitor. Gestri et al. (2009) noted that alternative splicing of exon 5a results in a TFAP2A isoform of 365 amino acids with an alternative C-terminal sequence. </p><p>Gestri et al. (2009) analyzed TFAP2A expression in mouse and human embryos and human fetal stage F2. Expression in the mouse was seen in the nasal process, palate, and within the CNS. During human embryonic development, TFAP2A was first seen in the anterior epithelium of the lens at cleavage stage (CS) 15. At CS18, TFAP2A was expressed more strongly in the anterior epithelium of the lens and also in the ganglion layer of the neural retina, and at CS22, in the equatorial region of the lens epithelium, secondary lens fibers, and throughout the ganglion cell layer of the neural retina. TFAP2A expression was still visible but weaker in the retina of F2 human eyes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bauer et al. (1994) described the genomic organization of the TFAP2A gene, including the promoter. The mature AP2 mRNA is spliced from 7 exons distributed over 18 kb of genomic DNA. They demonstrated that the promoter of the AP2TF gene is subject to positive autoregulation by its own gene product. A consensus AP2 binding site was located at position -622 with respect to the ATG initiation codon. </p><p>Gestri et al. (2009) noted that TFAP2A has 3 alternative transcription start sites designated exons 1a, 1b, and 1c as well as an alternative exon 5a. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By analysis of somatic cell hybrids and in situ hybridization to chromosomes, Gaynor et al. (1991) mapped the TFAP2A gene to chromosome 6p24-p22.3. Williamson et al. (1996) identified 2 other members of this gene family, AP2-beta (TFAP2B; 601601) and AP2-gamma (TFAP2C; 601602). Using FISH, Warren et al. (1996) mapped the homologous mouse gene, Tcfap2a, to chromosome 13A5-B1. Williamson et al. (1996) obtained human and mouse genomic clones for AP2-alpha and used FISH to confirm the location of the gene to human chromosome 6p24 and to mouse 13A5-B1. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Davies et al. (1999) reported a child with microphthalmia and corneal clouding and a number of other dysmorphic features, including hypertelorism, micrognathia, dysplastic ears, thin limbs, and congenital cardiac defects. This child had an interstitial deletion of 6p25-p24 that included AP2-alpha. Davies et al. (1999) suggested that AP2-alpha may be involved in anterior eye chamber development. </p><p>Zhu et al. (2001) found that SV40 transformation of human lung fibroblast cell lines was associated with cytosine methylation of the AP2-alpha promoter at 2 sites, including the KLF12 (607531)-binding site. They concluded that hypermethylation at the KLF12 site would tend to relieve KLF12-mediated suppression of AP2 promoter activity. </p><p>By deletion analysis of the 5-prime-flanking region of the TFAP2A gene, Cheng and Handwerger (2003) determined that the proximal 152 bp are essential for minimal promoter activity and that a 140-bp fragment from nucleotides -1279 to -1139 acts as an enhancer of basal transcriptional activity. Ligation of the 140-bp fragment to a minimal TFAP2A promoter or a heterologous simian virus 40 promoter luciferase reporter plasmid conferred enhancer activity in trophoblast cells. In deoxyribonuclease I footprint studies, nuclear extracts from trophoblast cells protected 2 regions of the 140-bp fragment, E2 and E3. Site-directed mutagenesis of an ETS1 (164720)-binding site in E2 significantly inhibited TFAP2A enhancer activity. Gel shift and supershift assays indicated that ETS1 binds to the ETS site in E2, and overexpression of ETS1 in transfection studies induced TFAP2A promoter activity. As the transcription factor ETS1 is abundant in trophoblast cells, Cheng and Handwerger (2003) concluded that these investigations strongly suggested that TFAP2A gene expression in the placenta is enhanced by a cis-acting element at nucleotides -1279 to -1139 that contains a critical ETS1-binding site. </p><p>Zarelli and Dawid (2013) found that human and zebrafish KCTD15 (615240) inhibited AP2-alpha-dependent expression of a reporter gene. KCTD15 did not prevent AP2-alpha dimer formation or binding of AP2-alpha to chromatin. KCTD15 directly bound a proline-rich region in the N-terminal activation domain of zebrafish AP2-alpha. Mutation of pro59 within this region inhibited KCTD15 binding, but it had no effect on DNA binding by AP2-alpha or AP2-alpha transactivation activity. KCTD15 inhibited AP2-alpha-dependent expression of neural crest markers in Xenopus animal cap assays. Zarelli and Dawid (2013) concluded that KCTD15 is a negative regulator of AP2-alpha that regulates neural crest formation during embryonic development. </p><p>Montagnac et al. (2013) reported that clathrin-coated pits control microtubule acetylation through a direct interaction of alpha-tubulin acetyltransferase (ATAT1; 615556) with the clathrin adaptor AP2. Montagnac et al. (2013) observed that about one-third of growing microtubule ends contact and pause at clathrin-coated pits and that loss of clathrin-coated pits decreases lys40 acetylation levels. Montagnac et al. (2013) showed that ATAT1 localizes to clathrin-coated pits through a direct interaction with AP2 that is required for microtubule acetylation. In migrating cells, the polarized orientation of acetylated microtubules correlates with clathrin-coated pit accumulation at the leading edge, and interaction of ATAT1 with AP2 is required for directional migration. Montagnac et al. (2013) concluded that microtubules contacting clathrin-coated pits become acetylated by ATAT1. In migrating cells, this mechanism ensures the acetylation of microtubules oriented toward the leading edge, thus promoting directional cell locomotion and chemotaxis. </p><p>Ye et al. (2016) noted that TFAP2A transcriptionally regulates PITX2c (see 601542), the dominant PITX2 isoform in the developing and adult left atrium. They identified a SNP in PITX2, rs2595104, that lies in an enhancer region approximately 10 kb upstream of the PITX2c transcription site, and that TFAP2A binds PITX2 at the site of the SNP. They also showed that CITED2 (602937), a TFAP2A binding partner that had been implicated in synergistic regulation of PITX2c, was differentially recruited to rs2595104. Ye et al. (2016) showed that binding of TFAP2A at rs2595104, and interaction with CITED2, regulate PITX2c in human cardiomyocytes, and suggested that this pathway could influence susceptibility to atrial fibrillation at the 4q25 locus (ATFB5; 611494). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Milunsky et al. (2008) studied a mother and son with branchiooculofacial syndrome (BOFS; 113620) and detected a 3.2-Mb deletion at chromosome 6p24.3. Sequencing of candidate genes in that region in 4 additional unrelated BOFS patients revealed 4 different de novo missense mutations in the highly conserved exons 4 and 5 of the TFAP2A gene (see, e.g., 107580.0001 and 107580.0002). </p><p>Gestri et al. (2009) analyzed the TFAP2A gene in 37 patients with developmental eye defects plus variable defects associated with BOFS and identified 2 heterozygous mutations in 2 patients (107580.0003 and 107580.0004, respectively). In addition, multiplex ligation-dependent probe amplification (MPLA) revealed a heterozygous deletion of the TFAP2A gene in 2 sibs with BOFS and their mildly affected father, previously reported by Fielding and Fryer (1992). </p><p>In a 4-year-old Turkish girl with sensorineural hearing loss and features of BOFS, Tekin et al. (2009) identified a heterozygous deletion/insertion mutation in the TFAP2A gene (107580.0005). </p><p>In 2 families and 3 sporadic patients with BOFS, Reiber et al. (2010) identified 4 heterozygous mutations, all within the highly conserved exons 4 through 6 of the TFAP2A gene, respectively (see, e.g., 107580.0001 and 107580.0006-107580.0007). The authors noted that these exons are almost free of any single-nucleotide polymorphisms and are evolutionarily highly conserved. </p><p>For discussion of a possible role of TFAP2A in cleft lip/palate, see CLP1 (119530).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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|
<p>To study the role of AP2 during embryogenesis, Schorle et al. (1996) undertook a targeted mutagenesis of the Ap2 gene in the mouse. They reported that Ap2 -/- mice died perinatally with cranioabdominoschisis and severe dysmorphogenesis of the face, skull, sensory organs, and cranial ganglia. Failure of cranial closure between days 9 and 9.5 postcoitum coincided with increased apoptosis in the midbrain, anterior hindbrain, and proximal mesenchyme of the first branchial arch, but did not involve loss of expression of 'Twist' (601622) or Pax3 (606597), 2 other regulatory genes known to be required for cranial closure. </p><p>Homozygous knockout mice for Ap2-alpha were shown by Zhang et al. (1996) to have observable neural tube defects at day 9.5 which were followed by craniofacial and body wall abnormalities later in embryogenesis. This is consistent with the developmental expression of AP2-alpha in tissues of ectodermal origin. </p><p>Lim et al. (2005) tested the role of the transcription factor AP2-alpha in regulating Fmr1 (309550) expression. Chromatin immunoprecipitation showed that AP2-alpha associated with the Fmr1 promoter in vivo. Fmr1 transcript levels were reduced approximately 4-fold in homozygous null AP2-alpha mutant mice at embryonic day 18.5 when compared with normal littermates. AP2-alpha exhibited a strong gene dosage effect, with heterozygous mice showing a approximately 2-fold reduction in Fmr1 levels. Examination of conditional AP2-alpha mutant mice indicated that the transcription factor played a major role in regulating Fmr1 expression in embryos, but not in adults. Overexpression of a dominant-negative AP2-alpha in Xenopus embryos led to reduced Fmr1 levels. Exogenous wildtype AP2-alpha rescued Fmr1 expression in embryos where endogenous AP2-alpha had been suppressed. Lim et al. (2005) concluded that AP2-alpha associates with the Fmr1 promoter in vivo and selectively regulates Fmr1 transcription during embryonic development. </p><p>After morpholino knockdown of tfap2a function in zebrafish, Gestri et al. (2009) observed a range of eye anomalies, which were frequently asymmetric and included microphthalmia, mild coloboma, and severe coloboma in which ventral retinal tissue, including retinal pigment epithelium, protruded from the back of the eye towards the midline of the brain. Pharyngeal cartilages were also affected in tfap2a morphants with the ceratohyal reduced in size and oriented medially instead of rostrally. Less severe defects were seen in more posterior arches. </p><p>Bassett et al. (2010) showed that patterning and morphogenetic defects in the Ap2-alpha knockout optic neuroepithelium began at the optic vesicle stage. During subsequent optic cup formation, ectopic neural retina and optic stalk-like tissue replaced regions of retinal pigment epithelium. Ap2-alpha knockout eyes also displayed coloboma in the ventral retina, and a rare phenotype in which the optic stalk completely failed to extend, causing the optic cups to be drawn inward to the midline. There was increased sonic hedgehog (SHH; 600725) signaling in the Ap2-alpha knockout forebrain neuroepithelium, which likely contributed to multiple aspects of the ocular phenotype, including expansion of Pax2 (167409)-positive optic stalk-like tissue into the optic cup. The authors suggested that loss of AP2-alpha in multiple tissues in the craniofacial region leads to severe optic cup and optic stalk abnormalities by disturbing the tissue-tissue interactions required for ocular development. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 BRANCHIOOCULOFACIAL SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TFAP2A, ARG255GLY
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<br />
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SNP: rs121909574,
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gnomAD: rs121909574,
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ClinVar: RCV000019530, RCV001090476
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an 18-year-old man with branchiooculofacial syndrome (BOFS; 113620), previously studied by Lin et al. (2000), Milunsky et al. (2008) identified a de novo 10529A-G transition in exon 4 of the TFAP2A gene, resulting in an arg255-to-gly (R255G) substitution at a highly conserved residue in the basic region of the DNA-binding domain, a change that replaces a charged polar side chain with a nonpolar side chain with a predicted conformational space change. The mutation was not found in more than 300 controls. </p><p>In a mother and daughter with BOFS, as well as an unrelated sporadic BOFS patient, Reiber et al. (2010) identified heterozygosity for the R255G mutation in the TFAP2A gene. Noting that R255G had been found in 3 of 11 unrelated mutation-positive patients, Reiber et al. (2010) suggested that it might represent a recurrent mutation causing BOFS. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 BRANCHIOOCULOFACIAL SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TFAP2A, GLY262GLU
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<br />
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SNP: rs121909575,
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ClinVar: RCV000019531
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 17-year-old man with branchiooculofacial syndrome (BOFS; 113620), previously studied by Lin et al. (2000), Milunsky et al. (2008) identified a de novo 12448C-T transition in exon 5 of the TFAP2A gene, resulting in an gly262-to-glu (G262E) substitution at a highly conserved residue in the basic region of the DNA-binding domain, a change that replaces a nonpolar side chain with a charged polar side chain. The mutation was not found in more than 300 controls. Milunsky et al. (2008) stated that this was the first BOFS patient reported with medulloblastoma. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 BRANCHIOOCULOFACIAL SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TFAP2A, 12-BP DEL, NT697
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<br />
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ClinVar: RCV000019532
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 5-year-old boy with branchiooculofacial syndrome (BOFS; 113620), Gestri et al. (2009) identified a de novo heterozygous 12-bp deletion (697del12) in the basic domain of the TFAP2A gene, resulting in deletion of 4 amino acids, from glu233 to arg236. The patient had classic features of BOFS, including high-arched palate, prominent philtrum, narrow ear canals, abnormal pinnae, and periorbital and scalp cysts. His eye findings included a right cystic remnant and mildly microphthalmic left eye with a reduced corneal diameter, iris coloboma, primary aphakia, and a large posterior chorioretinal coloboma. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 BRANCHIOOCULOFACIAL SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TFAP2A, PHE319SER
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<br />
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SNP: rs113027487,
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gnomAD: rs113027487,
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ClinVar: RCV001561919, RCV001713137
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 10-month-old female infant with severe eye defects but a nonclassic branchiooculofacial syndrome phenotype (BOFS; 113620), Gestri et al. (2009) identified a heterozygous 956T-C transition in exon 5a the TFAP2A gene, resulting in a phe319-to-ser (F319S) substitution at a conserved residue in the alternatively spliced isoform of TFAP2A. The mutation, which was not found in 189 control samples, was inherited from her apparently unaffected father and segregated with polydactyly on the paternal side. The patient had right microphthalmia with sclerocornea, primary aphakia, and localized tractional retinal detachment, and an extremely microphthalmic left eye with sclerocornea. Her systemic features, which were not classic for BOFS, included atrial septal defect with an enlarged anomalous blood vessel draining into the right atrium, and facial capillary hemangioma. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 BRANCHIOOCULOFACIAL SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TFAP2A, 18-BP DEL/6-BP INS, NT828
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<br />
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ClinVar: RCV000019534
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 4-year-old Turkish girl with sensorineural hearing loss and features of branchiooculofacial syndrome (BOFS; 113620), Tekin et al. (2009) identified heterozygosity for a de novo 18-bp deletion and 6-bp insertion (828delCTGCCTGCAGGGAGACGTinsAGGATT) in exon 5 of the TFAP2A gene, resulting in insertion of arginine and isoleucine residues at codon 276. Tekin et al. (2009) stated that this mutation differed from those previously reported in BOFS patients without sensorineural hearing loss in that it involved both DNA-binding and dimerization domains; they suggested that the patient's inner ear malformation might be related to impaired dimerization of TFAP2A. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 BRANCHIOOCULOFACIAL SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TFAP2A, GLU269LYS
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<br />
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SNP: rs267607108,
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ClinVar: RCV000019535
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 5 affected members of a family with branchiooculofacial syndrome (BOFS; 113620), originally reported by Lin et al. (1995), Reiber et al. (2010) identified heterozygosity for an 886G-A transition in exon 6 of the TFAP2A gene, resulting in a glu296-to-lys (E296K) substitution at a highly conserved residue. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 BRANCHIOOCULOFACIAL SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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TFAP2A, ARG237GLN
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<br />
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SNP: rs151344525,
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ClinVar: RCV000019536, RCV000624658, RCV002472933
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a boy with mild branchiooculofacial syndrome (BOFS; 113620) who had a pseudocleft lip consisting only of a philtral ridge, Reiber et al. (2010) identified heterozygosity for a 710G-A transition in exon 4 of the TFAP2A gene, resulting in an arg237-to-gln (R237Q) substitution at a highly conserved residue. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<strong>Localization of the gene for the DNA-binding protein AP-2 to human chromosome 6p22.3-pter.</strong>
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Gestri, G., Osborne, R. J., Wyatt, A. W., Gerrelli, D., Gribble, S., Stewart, H., Fryer, A., Bunyan, D. J., Prescott, K., Collin, J. R. O., Fitzgerald, T., Robinson, D., Carter, N. P., Wilson, S. W., Ragge, N. K.
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<strong>Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.</strong>
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[PubMed: 19685247]
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Williams, T., Admon, A., Luscher, B., Tjian, R.
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Williamson, J. A., Bosher, J. M., Skinner, A., Sheer, D., Williams, T., Hurst, H. C.
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<strong>Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors.</strong>
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Genomics 35: 262-264, 1996.
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[PubMed: 8661133]
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<p class="mim-text-font">
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Zarelli, V. E., Dawid, I. B.
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<strong>Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.</strong>
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<p class="mim-text-font">
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Zhang, J., Hagopian-Donaldson, S., Serbedzija, G., Elsemore, J., Plehn-Dujowich, D., McMahon, A. P., Flavell, R. A., Williams, T.
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<strong>Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2.</strong>
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Nature 381: 238-241, 1996.
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[PubMed: 8622766]
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[Full Text: https://doi.org/10.1038/381238a0]
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</p>
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<li>
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<p class="mim-text-font">
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Zhu, C.-H., Huang, Y., Broman, M. T., Domann, F. E.
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<strong>Expression of AP-2-alpha in SV40 immortalized human lung fibroblasts is associated with a distinct pattern of cytosine methylation in the AP-2-alpha promoter.</strong>
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Biochim. Biophys. Acta 1519: 85-91, 2001.
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[PubMed: 11406275]
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[Full Text: https://doi.org/10.1016/s0167-4781(01)00227-5]
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Ada Hamosh - updated : 11/02/2018<br>Ada Hamosh - updated : 12/05/2013<br>Patricia A. Hartz - updated : 5/20/2013<br>George E. Tiller - updated : 12/1/2011<br>Marla J. F. O'Neill - updated : 10/19/2011<br>Marla J. F. O'Neill - updated : 12/1/2010<br>Marla J. F. O'Neill - updated : 8/27/2010<br>Marla J. F. O'Neill - updated : 8/25/2010<br>George E. Tiller - updated : 11/18/2008<br>Marla J. F. O'Neill - updated : 6/10/2008<br>John A. Phillips, III - updated : 8/6/2004<br>Patricia A. Hartz - updated : 1/27/2003<br>Victor A. McKusick - updated : 1/4/2002<br>Michael J. Wright - updated : 12/16/1999<br>Victor A. McKusick - updated : 3/3/1998<br>Alan F. Scott - updated : 1/3/1997
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Victor A. McKusick : 2/28/1992
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