transcription factor AP-2 alpha
Last updated 29 Sept 2025
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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.
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.
Conditions referring to this gene or chromosome
Other names
activating enhancer-binding protein 2-alpha
activator protein 2
AP-2
AP-2 transcription factor
AP-2alpha
AP2-alpha
AP2A_HUMAN
AP2TF
BOFS
TFAP2
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
transcription factor AP-2-alpha
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Further reading and references
- transcription factor AP-2 alpha; MedlinePlus, National Library of Medicine.
- 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.
- Developmental Biology (sixth edition, 2000): The Neural Crest
- Haldeman-Englert CR, Lin AE, Milunsky JM. Branchiooculofacial Syndrome. 2011 May 31 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK55063/
- 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.
- 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.
- 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.
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