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Tang, P. ZEB2 Gene. Encyclopedia. Available online: (accessed on 18 June 2024).
Tang P. ZEB2 Gene. Encyclopedia. Available at: Accessed June 18, 2024.
Tang, Peter. "ZEB2 Gene" Encyclopedia, (accessed June 18, 2024).
Tang, P. (2020, December 24). ZEB2 Gene. In Encyclopedia.
Tang, Peter. "ZEB2 Gene." Encyclopedia. Web. 24 December, 2020.
ZEB2 Gene

Zinc finger E-box binding homeobox 2


1. Normal Function

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.

2. Health Conditions Related to Genetic Changes

2.1. Mowat-Wilson syndrome

More than 180 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.

2.2. Coloboma

3. Other Names for This Gene

  • KIAA0569

  • SIP-1

  • SIP1

  • Smad interacting-protein 1

  • Smad-interacting protein 1



  • ZFHX1B

  • zinc finger E-box-binding protein 2

  • zinc finger homeobox 1b


  1. Adam MP, Conta J, Bean LJH. Mowat-Wilson Syndrome. 2007 Mar 28 [updated 2019Jul 25]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available from
  2. Bassez G, Camand OJ, Cacheux V, Kobetz A, Dastot-Le Moal F, Marchant D, CatalaM, Abitbol M, Goossens M. Pleiotropic and diverse expression of ZFHX1B genetranscripts during mouse and human development supports the various clinicalmanifestations of the "Mowat-Wilson" syndrome. Neurobiol Dis. 2004Mar;15(2):240-50.
  3. Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M. ZFHX1Bmutations in patients with Mowat-Wilson syndrome. Hum Mutat. 2007Apr;28(4):313-21.
  4. Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis. 2007 Oct24;2:42. Review.
  5. Ishihara N, Yamada K, Yamada Y, Miura K, Kato J, Kuwabara N, Hara Y, KobayashiY, Hoshino K, Nomura Y, Mimaki M, Ohya K, Matsushima M, Nitta H, Tanaka K, SegawaM, 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 ofMowat-Wilson syndrome associated with ZFHX1B mutations and deletions at2q22-q24.1. J Med Genet. 2004 May;41(5):387-93.
  6. Mowat DR, Wilson MJ, Goossens M. Mowat-Wilson syndrome. J Med Genet. 2003May;40(5):305-10. Review.
  7. Saunders CJ, Zhao W, Ardinger HH. Comprehensive ZEB2 gene analysis forMowat-Wilson syndrome in a North American cohort: a suggested approach tomolecular diagnostics. Am J Med Genet A. 2009 Nov;149A(11):2527-31. doi:10.1002/ajmg.a.33067.
  8. Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R,Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H,Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K,Okamoto N, Wakamatsu N. The spectrum of ZEB2 mutations causing the Mowat-Wilsonsyndrome in Japanese populations. Am J Med Genet A. 2014 Aug;164A(8):1899-908.doi: 10.1002/ajmg.a.36551.Jun;167(6):1428.
  9. 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, GallagherRC, 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 MedGenet. 2005 Apr-Jun;48(2):97-111.
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