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ZEB2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ZEB2 gene

The ZEB2 gene provides instructions for making a protein that acts as a transcription factor, playing a critical role in the early development of many organs and tissues.

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.

Health Conditions Related to Genetic Changes

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.

Coloboma

MedlinePlus Genetics provides information about Coloboma.

Other Names for This Gene

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

Frequently Asked Questions

Individuals with Mowat-Wilson syndrome often present with distinctive facial features, intellectual disability, and various birth defects affecting the heart, digestive tract (like Hirschsprung disease), genitourinary system, and brain. Seizures are also common. These features typically appear early in life, prompting evaluation for genetic causes.
Management for Mowat-Wilson syndrome is multidisciplinary and focuses on addressing specific symptoms. This often includes regular evaluations by cardiologists, gastroenterologists, urologists, and neurologists. Early intervention therapies such as physical therapy, occupational therapy, and speech therapy are crucial for developmental support, along with educational and behavioral support programs. Surgical interventions may be needed for certain birth defects like Hirschsprung disease or heart anomalies.
Mowat-Wilson syndrome is usually inherited in an autosomal dominant pattern, meaning only one copy of the altered ZEB2 gene in each cell is sufficient to cause the disorder. Most cases result from new (de novo) mutations in individuals with no family history, but in rare instances, it can be inherited from a parent who has a mild form or is mosaic for the mutation.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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