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<span>TFAP2A gene</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/gene/tfap2a/</span>
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<h1 class="with-also">TFAP2A gene</h1>
<span class="alsocalled">transcription factor AP-2 alpha</span>
</div>
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<h2>Normal Function</h2>
<section><div class="mp-content"><p>The <i>TFAP2A</i> gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2α). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2α is one of a group of related proteins called AP-2 transcription factors. These proteins regulate genes that help control cell division and the self-destruction (apoptosis) of cells that are no longer needed.</p><p>Transcription factor AP-2α is involved in development before birth. In particular, this protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Among the embryonic structures formed from neural crest cells are the branchial arches, which develop into the bones and other tissues of the head and neck. The <i>TFAP2A</i> gene appears to be especially important for the development of tissues derived from the first and second branchial arches.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="conditions">
<h2>Health Conditions Related to Genetic Changes</h2>
<section>
<div class="mp-content mp-exp exp-full">
<h3>Branchio-oculo-facial syndrome</h3>
<p>Mutations in the <i>TFAP2A</i> gene cause a condition called branchio-oculo-facial syndrome, which is characterized by skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. Most <i>TFAP2A</i> gene mutations involved in this condition change single protein building blocks (amino acids) in the transcription factor AP-2α protein. These changes tend to occur in a region of the protein that enables it to bind to DNA. Although the effect of the amino acid changes on transcription factor AP-2α is unknown, the protein's DNA binding function is likely impaired. Without this function, the protein cannot control the activity of genes during development. <i>TFAP2A</i> gene mutations disrupt the development of structures derived from the branchial arches, which results in the characteristic features of branchio-oculo-facial syndrome.</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/branchio-oculo-facial-syndrome/">More About This Health Condition</a>
</div>
</section>
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<h3>Coloboma</h3>
<p>MedlinePlus Genetics provides information about Coloboma</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/coloboma/">More About This Health Condition</a>
</div>
</section>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Gene</h2>
<section>
<ul class="bulletlist">
<li>activating enhancer-binding protein 2-alpha</li> <li>activator protein 2</li> <li>AP-2</li> <li>AP-2 transcription factor</li> <li>AP-2alpha</li> <li>AP2-alpha</li> <li>AP2A_HUMAN</li> <li>AP2TF</li> <li>BOFS</li> <li>TFAP2</li> <li>transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)</li> <li>transcription factor AP-2-alpha</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Tests Listed in the Genetic Testing Registry</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=7020[geneid]" target="TheNewWin">Tests of TFAP2A</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28TFAP2A%5BTIAB%5D%29+OR+%28transcription+factor+AP-2+alpha%5BTIAB%5D%29%29+AND+%28%28Genes%5BMH%5D%29+OR+%28Genetic+Phenomena%5BMH%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/107580" target="TheNewWin">TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A</a></li>
</ul>
</div>
</section>
<section>
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<h2>Gene and Variant Databases</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/7020" target="TheNewWin">NCBI Gene</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=TFAP2A[gene]" target="TheNewWin">ClinVar</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
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<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>de Croze N, Maczkowiak F, Monsoro-Burq AH. Reiterative AP2a activity controls
sequential steps in the neural crest gene regulatory network. Proc Natl Acad Sci
U S A. 2011 Jan 4;108(1):155-60. doi: 10.1073/pnas.1010740107. Epub 2010 Dec 15. <a href="https://pubmed.ncbi.nlm.nih.gov/21169220" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3017139/" target="TheNewWin">Free article on PubMed Central</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/books/NBK10065/" target="TheNewWin">Developmental Biology (sixth edition, 2000): The Neural Crest</a></li>
<li>Hilger-Eversheim K, Moser M, Schorle H, Buettner R. Regulatory roles of AP-2
transcription factors in vertebrate development, apoptosis and cell-cycle
control. Gene. 2000 Dec 30;260(1-2):1-12. doi: 10.1016/s0378-1119(00)00454-6.
<a href="https://pubmed.ncbi.nlm.nih.gov/11137286" target="TheNewWin">Citation on PubMed</a></li>
<li>Lin AE, Haldeman-Englert CR, Milunsky JM. Branchiooculofacial Syndrome. 2011
May 31 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA,
Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA):
University of Washington, Seattle; 1993-2025. Available from
http://www.ncbi.nlm.nih.gov/books/NBK55063/
<a href="https://pubmed.ncbi.nlm.nih.gov/21634087" target="TheNewWin">Citation on PubMed</a></li>
<li>Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN,
Clemens M, Mulliken JB, Smith R, Lin AE. TFAP2A mutations result in
branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May;82(5):1171-7. doi:
10.1016/j.ajhg.2008.03.005. Erratum In: Am J Hum Genet. 2009 Feb;84(2):301. <a href="https://pubmed.ncbi.nlm.nih.gov/18423521" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427243/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Wang WD, Melville DB, Montero-Balaguer M, Hatzopoulos AK, Knapik EW. Tfap2a
and Foxd3 regulate early steps in the development of the neural crest progenitor
population. Dev Biol. 2011 Dec 1;360(1):173-85. doi: 10.1016/j.ydbio.2011.09.019.
Epub 2011 Sep 22. <a href="https://pubmed.ncbi.nlm.nih.gov/21963426" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3236700/" target="TheNewWin">Free article on PubMed Central</a></li>
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<section><div class="side-section"><div class="mp-content"><div class="section-header"><h2>Genomic Location</h2></div><div class="section-body"><span>The <em>TFAP2A</em> gene is found on <a data-pid="20041" href="https://medlineplus.gov/genetics/chromosome/6/">chromosome 6</a>.</span></div></div>
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