Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

ZEB2

Reviewed December 2007

What is the official name of the ZEB2 gene?

The official name of this gene is “zinc finger E-box binding homeobox 2.”

ZEB2 is the gene's official symbol. The ZEB2 gene is also known by other names, listed below.

What is the normal function of the ZEB2 gene?

The ZEB2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers have found that the ZEB2 protein is involved in chemical signaling pathways that regulate early growth and development.

The ZEB2 protein is active in many types of cells before birth. It appears to be particularly important for the development of 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.

The ZEB2 protein is also active in cells that are not derived from the neural crest. For example, this protein is involved in the development of the digestive tract, skeletal muscles, kidneys, and other organs.

Does the ZEB2 gene share characteristics with other genes?

The ZEB2 gene belongs to a family of genes called homeobox (homeoboxes). It also belongs to a family of genes called ZNF (zinc fingers, C2H2-type).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the ZEB2 gene related to health conditions?

Mowat-Wilson syndrome - caused by mutations in the ZEB2 gene

More than 100 mutations in the ZEB2 gene have been identified in people with Mowat-Wilson syndrome. These mutations almost always inactivate one copy of the ZEB2 gene. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein.

A shortage of the ZEB2 protein disrupts the formation of many organs and tissues before birth. The abnormal development of neural crest-derived structures, such as the nervous system and facial features, underlie many of the signs and symptoms of Mowat-Wilson syndrome. The role of the ZEB2 protein in the development of nerves that control the digestive tract may help explain why many people with this condition also have Hirschsprung disease, an intestinal disorder that causes severe constipation, intestinal blockage, and enlargement of the colon.

Where is the ZEB2 gene located?

Cytogenetic Location: 2q22.3

Molecular Location on chromosome 2: base pairs 144,384,374 to 144,520,390

The ZEB2 gene is located on the long (q) arm of chromosome 2 at position 22.3.

The ZEB2 gene is located on the long (q) arm of chromosome 2 at position 22.3.

More precisely, the ZEB2 gene is located from base pair 144,384,374 to base pair 144,520,390 on chromosome 2.

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 ZEB2?

You and your healthcare professional may find the following resources about ZEB2 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 ZEB2 gene or gene products?

  • KIAA0569
  • SIP1
  • SIP-1
  • Smad interacting-protein 1
  • Smad-interacting protein 1
  • SMADIP1
  • ZEB2_HUMAN
  • ZFHX1B
  • zinc finger E-box-binding protein 2
  • zinc finger homeobox 1b

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 ZEB2?

colon ; constipation ; digestive ; DNA ; embryo ; enteric ; gene ; haploinsufficiency ; homeobox ; nervous system ; neural crest ; pigment ; protein ; syndrome ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bassez G, Camand OJ, Cacheux V, Kobetz A, Dastot-Le Moal F, Marchant D, Catala M, Abitbol M, Goossens M. Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome. Neurobiol Dis. 2004 Mar;15(2):240-50. (http://www.ncbi.nlm.nih.gov/pubmed/15006694?dopt=Abstract)
  • Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M. ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat. 2007 Apr;28(4):313-21. (http://www.ncbi.nlm.nih.gov/pubmed/17203459?dopt=Abstract)
  • Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis. 2007 Oct 24;2:42. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17958891?dopt=Abstract)
  • Gene Review: Mowat-Wilson Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1412)
  • Ishihara N, Yamada K, Yamada Y, Miura K, Kato J, Kuwabara N, Hara Y, Kobayashi Y, Hoshino K, Nomura Y, Mimaki M, Ohya K, Matsushima M, Nitta H, Tanaka K, Segawa M, Ohki T, Ezoe T, Kumagai T, Onuma A, Kuroda T, Yoneda M, Yamanaka T, Saeki M, Segawa M, Saji T, Nagaya M, Wakamatsu N. Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. J Med Genet. 2004 May;41(5):387-93. (http://www.ncbi.nlm.nih.gov/pubmed/15121779?dopt=Abstract)
  • Mowat DR, Wilson MJ, Goossens M. Mowat-Wilson syndrome. J Med Genet. 2003 May;40(5):305-10. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12746390?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9839)
  • Zweier C, Temple IK, Beemer F, Zackai E, Lerman-Sagie T, Weschke B, Anderson CE, Rauch A. Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. J Med Genet. 2003 Aug;40(8):601-5. (http://www.ncbi.nlm.nih.gov/pubmed/12920073?dopt=Abstract)
  • Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25. (http://www.ncbi.nlm.nih.gov/pubmed/16053902?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: December 2007
Published: September 15, 2014