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TFAP2A gene

transcription factor AP-2 alpha

Normal Function

The TFAP2A 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.

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 TFAP2A gene appears to be especially important for the development of tissues derived from the first and second branchial arches.

Health Conditions Related to Genetic Changes

Branchio-oculo-facial syndrome

Mutations in the TFAP2A 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 TFAP2A 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. TFAP2A gene mutations disrupt the development of structures derived from the branchial arches, which results in the characteristic features of branchio-oculo-facial syndrome.

More About This Health Condition


MedlinePlus Genetics provides information about Coloboma

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Other Names for This Gene

  • activating enhancer-binding protein 2-alpha
  • activator protein 2
  • AP-2
  • AP-2 transcription factor
  • AP-2alpha
  • AP2-alpha
  • AP2TF
  • BOFS
  • TFAP2
  • transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
  • transcription factor AP-2-alpha

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases


  • 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. Citation on PubMed or Free article on PubMed Central
  • Developmental Biology (sixth edition, 2000): The Neural Crest
  • 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. Citation on PubMed
  • 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, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed or Free article on PubMed Central

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