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ZIC2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ZIC2 gene

The ZIC2 gene provides instructions for making a transcription factor that is essential for the development of the forebrain.

Normal Function

The ZIC2 gene provides instructions for making a protein that plays an important role in the development of the front part of the brain (forebrain). This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. The ZIC2 protein regulates genes involved in both early and late stages of forebrain development.

Health Conditions Related to Genetic Changes

Nonsyndromic holoprosencephaly

More than 80 mutations in the ZIC2 gene have been found to cause nonsyndromic holoprosencephaly. This condition occurs when the brain fails to divide into two halves (hemispheres) during early development. ZIC2 gene mutations are the second most common cause of nonsyndromic holoprosencephaly. The facial features of individuals with ZIC2 gene mutations are different from those with nonsyndromic holoprosencephaly caused by mutations in other genes. These distinctive facial features include a narrowing of the head at the temples, outside corners of the eyes that point upward (upslanting palpebral fissures), large ears, a short nose with upturned nostrils, and a broad and deep space between the nose and mouth (philtrum). It is unclear how mutations in the ZIC2 gene lead to these facial features.

ZIC2 gene mutations that cause nonsyndromic holoprosencephaly reduce or eliminate the activity of the ZIC2 protein. Without enough functional ZIC2 protein, the genes involved in normal forebrain development are not properly controlled. As a result, the brain does not separate into two hemispheres. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain and face.

Coloboma

MedlinePlus Genetics provides information about Coloboma.

Other Names for This Gene

  • HPE5
  • Zic family member 2 (odd-paired Drosophila homolog)
  • Zic family member 2 (odd-paired homolog, Drosophila)
  • ZIC2_HUMAN
  • Zinc finger protein of the cerebellum 2
  • zinc finger protein ZIC 2

Frequently Asked Questions

Diagnosis of holoprosencephaly, including forms caused by ZIC2 mutations, often occurs prenatally through ultrasound or fetal MRI, which can detect the abnormal brain development. After birth, diagnosis is confirmed by brain imaging (MRI or CT scan) and clinical evaluation of facial features and neurological symptoms. Genetic testing for ZIC2 mutations can then confirm the specific cause.
The long-term outlook for individuals with ZIC2-related nonsyndromic holoprosencephaly varies widely depending on the severity of brain malformation. Common medical challenges include developmental delays, intellectual disability, seizures, feeding difficulties, and problems with hormone regulation (e.g., diabetes insipidus). Lifespan can be significantly reduced in severe cases, while those with milder forms may have a better prognosis but still require extensive supportive care.
ZIC2-related nonsyndromic holoprosencephaly is typically inherited in an autosomal dominant pattern. However, many cases result from new (de novo) mutations in the affected individual, meaning neither parent carries the mutation. If a parent is found to carry the mutation, the recurrence risk for future pregnancies can be up to 50%. Genetic counseling is crucial to determine the specific inheritance pattern and recurrence risk for each family.
Nonsyndromic holoprosencephaly linked to ZIC2 mutations often presents with distinctive facial features. These can include a narrowing of the head at the temples, outside corners of the eyes that point upward (upslanting palpebral fissures), large ears, a short nose with upturned nostrils, and a broad and deep space between the nose and mouth (philtrum). These features, along with brain imaging showing a failure of the forebrain to divide, can point to a ZIC2 cause.
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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