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Genetics Home Reference: your guide to understanding genetic conditions
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TFAP2A

Reviewed September 2012

What is the official name of the TFAP2A gene?

The official name of this gene is “transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha).”

TFAP2A is the gene's official symbol. The TFAP2A gene is also known by other names, listed below.

What is the normal function of the TFAP2A gene?

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.

How are changes in the TFAP2A gene related to health conditions?

branchio-oculo-facial syndrome - caused by mutations in the TFAP2A gene

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.

Where is the TFAP2A gene located?

Cytogenetic Location: 6p24

Molecular Location on chromosome 6: base pairs 10,396,676 to 10,419,623

The TFAP2A gene is located on the short (p) arm of chromosome 6 at position 24.

The TFAP2A gene is located on the short (p) arm of chromosome 6 at position 24.

More precisely, the TFAP2A gene is located from base pair 10,396,676 to base pair 10,419,623 on chromosome 6.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about TFAP2A?

You and your healthcare professional may find the following resources about TFAP2A helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TFAP2A gene or gene products?

  • activating enhancer-binding protein 2-alpha
  • activator protein 2
  • AP-2
  • AP2A_HUMAN
  • AP2-alpha
  • AP-2alpha
  • AP2TF
  • AP-2 transcription factor
  • BOFS
  • TFAP2
  • transcription factor AP-2-alpha

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding TFAP2A?

acids ; amino acid ; apoptosis ; cell ; cell division ; DNA ; embryo ; embryonic ; enhancer ; gene ; neural crest ; protein ; syndrome ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • de Crozé 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. (http://www.ncbi.nlm.nih.gov/pubmed/21169220?dopt=Abstract)
  • Developmental Biology (sixth edition, 2000): The Neural Crest (http://www.ncbi.nlm.nih.gov/books/NBK10065/)
  • Gene Review: Branchiooculofacial Syndrome (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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11137286?dopt=Abstract)
  • 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.. (http://www.ncbi.nlm.nih.gov/pubmed/18423521?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7020)
  • OMIM: TRANSCRIPTION FACTOR AP2-ALPHA (http://omim.org/entry/107580)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/21963426?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: September 2012
Published: August 24, 2015