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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed June 2008

What is the official name of the TFAP2B gene?

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

TFAP2B is the gene's official symbol. The TFAP2B gene is also known by other names, listed below.

What is the normal function of the TFAP2B gene?

The TFAP2B gene provides instructions for making a protein called transcription factor AP-2β. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2β 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 of cells that are no longer needed (apoptosis).

Transcription factor AP-2β 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. Neural crest cells migrate to form portions of the nervous system, glands that produce hormones (endocrine glands), pigment cells, smooth muscle and other tissues in the heart, and many tissues in the face and skull. Transcription factor AP-2β also appears to play an important role in the development of the limbs.

How are changes in the TFAP2B gene related to health conditions?

Char syndrome - caused by mutations in the TFAP2B gene

Fewer than 10 mutations in the TFAP2B gene have been identified in people with Char syndrome. These mutations alter the structure of transcription factor AP-2β. More than half of the known mutations alter a region of the protein that is critical for DNA binding. Other mutations occur in an area of the protein that is necessary for regulating gene activity. At least two changes in the TFAP2B gene prevent the production of any transcription factor AP-2β. A loss of this protein's function disrupts the normal development of structures derived from the neural crest, including the heart and facial features. Abnormal development of these tissues leads to the major features of Char syndrome.

other disorders - associated with the TFAP2B gene

Studies suggest that several normal variations (polymorphisms) in the TFAP2B gene are associated with an increased risk of type 2 diabetes mellitus, the most common form of diabetes. People with this disease have high blood sugar levels because the body does not respond correctly to insulin, a hormone produced by the pancreas. This hormone controls how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. Researchers have proposed that polymorphisms in the TFAP2B gene alter cells' responsiveness to insulin, particularly fat-storing cells (adipocytes).

Although changes in the TFAP2B gene may be associated with type 2 diabetes mellitus, a combination of lifestyle, genetic, and environmental factors all play a part in determining the risk of this complex disorder.

Where is the TFAP2B gene located?

Cytogenetic Location: 6p12

Molecular Location on chromosome 6: base pairs 50,817,710 to 50,847,619

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The TFAP2B gene is located on the short (p) arm of chromosome 6 at position 12.

The TFAP2B gene is located on the short (p) arm of chromosome 6 at position 12.

More precisely, the TFAP2B gene is located from base pair 50,817,710 to base pair 50,847,619 on chromosome 6.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about TFAP2B?

You and your healthcare professional may find the following resources about TFAP2B 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 TFAP2B gene or gene products?

  • activating enhancer binding protein 2 beta
  • AP2-B
  • AP-2B
  • AP2-beta
  • MGC21381
  • transcription factor AP-2 beta

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding TFAP2B?

adipocytes ; apoptosis ; cell ; cell division ; diabetes ; diabetes mellitus ; DNA ; embryo ; enhancer ; gene ; glucose ; high blood sugar ; hormone ; insulin ; nervous system ; neural crest ; pancreas ; pigment ; protein ; syndrome ; transcription ; transcription factor

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


  • 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. (
  • Maeda S, Tsukada S, Kanazawa A, Sekine A, Tsunoda T, Koya D, Maegawa H, Kashiwagi A, Babazono T, Matsuda M, Tanaka Y, Fujioka T, Hirose H, Eguchi T, Ohno Y, Groves CJ, Hattersley AT, Hitman GA, Walker M, Kaku K, Iwamoto Y, Kawamori R, Kikkawa R, Kamatani N, McCarthy MI, Nakamura Y. Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus. J Hum Genet. 2005;50(6):283-92. Epub 2005 Jun 7. (
  • Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, State MW, Lifton RP. Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proc Natl Acad Sci U S A. 2005 Feb 22;102(8):2975-9. Epub 2005 Jan 31. (
  • NCBI Gene (
  • Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet. 2000 May;25(1):42-6. (
  • Tsukada S, Tanaka Y, Maegawa H, Kashiwagi A, Kawamori R, Maeda S. Intronic polymorphisms within TFAP2B regulate transcriptional activity and affect adipocytokine gene expression in differentiated adipocytes. Mol Endocrinol. 2006 May;20(5):1104-11. Epub 2005 Dec 22. (
  • Zhao F, Weismann CG, Satoda M, Pierpont ME, Sweeney E, Thompson EM, Gelb BD. Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. Am J Hum Genet. 2001 Oct;69(4):695-703. Epub 2001 Aug 14. (


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? ( in the Handbook.

Reviewed: June 2008
Published: February 8, 2016