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Reviewed September 2010

What is the official name of the ZIC2 gene?

The official name of this gene is “Zic family member 2.”

ZIC2 is the gene's official symbol. The ZIC2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ZIC2 gene?

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.

How are changes in the ZIC2 gene related to health conditions?

nonsyndromic holoprosencephaly - caused by mutations in the ZIC2 gene

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.

Where is the ZIC2 gene located?

Cytogenetic Location: 13q32

Molecular Location on chromosome 13: base pairs 99,981,772 to 99,986,765

The ZIC2 gene is located on the long (q) arm of chromosome 13 at position 32.

The ZIC2 gene is located on the long (q) arm of chromosome 13 at position 32.

More precisely, the ZIC2 gene is located from base pair 99,981,772 to base pair 99,986,765 on chromosome 13.

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

Where can I find additional information about ZIC2?

You and your healthcare professional may find the following resources about ZIC2 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 ZIC2 gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ZIC2?

cerebellum ; DNA ; gene ; holoprosencephaly ; philtrum ; protein ; transcription ; transcription factor

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

See also Understanding Medical Terminology.

References (11 links)


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: September 2010
Published: November 23, 2015