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Reviewed March 2010

What is the official name of the OTX2 gene?

The official name of this gene is “orthodenticle homeobox 2.”

OTX2 is the gene's official symbol. The OTX2 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 OTX2 gene?

The OTX2 gene provides instructions for producing a protein that regulates the activity of other genes. On the basis of this action, the OTX2 protein is called a transcription factor. The OTX2 gene is part of a family of homeobox genes, which act during early embryonic development to control the formation of many body structures.

The OTX2 gene plays a critical role in the development of the eyes and related structures, such as the nerves that carry visual information from the eyes to the brain (optic nerves). It is also involved in brain development, including the formation of the pituitary gland at the base of the brain. The pituitary gland produces hormones that help control growth, reproduction, and other critical body functions.

Does the OTX2 gene share characteristics with other genes?

The OTX2 gene belongs to a family of genes called homeobox (homeoboxes).

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? in the Handbook.

How are changes in the OTX2 gene related to health conditions?

septo-optic dysplasia - caused by mutations in the OTX2 gene

At least eight mutations in the OTX2 gene have been identified in people with the major features of septo-optic dysplasia. Some of these mutations prevent the production of a functional OTX2 protein. Other mutations lead to a defective version of the protein that cannot regulate the activity of other genes.

A shortage of the OTX2 protein disrupts the formation and early development of the eyes, the optic nerves, the pituitary gland, and other brain structures. These problems with development lead to the major features of septo-optic dysplasia, including eye abnormalities, underdevelopment of the pituitary gland (pituitary hypoplasia), and learning difficulties. However, the signs and symptoms associated with OTX2 gene mutations vary widely, even among affected members of the same family. Additional features that have been reported in people with OTX2 gene mutations include delayed development, slow growth, and seizures.

Studies suggest that mutations in the OTX2 gene are a rare cause of septo-optic dysplasia.

Genetics Home Reference provides additional information about these conditions associated with changes in the OTX2 gene:

Where is the OTX2 gene located?

Cytogenetic Location: 14q22.3

Molecular Location on chromosome 14: base pairs 56,800,707 to 56,810,476

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The OTX2 gene is located on the long (q) arm of chromosome 14 at position 22.3.

The OTX2 gene is located on the long (q) arm of chromosome 14 at position 22.3.

More precisely, the OTX2 gene is located from base pair 56,800,707 to base pair 56,810,476 on chromosome 14.

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

Where can I find additional information about OTX2?

You and your healthcare professional may find the following resources about OTX2 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 OTX2 gene or gene products?

  • homeobox protein OTX2
  • MCOPS5
  • MGC45000
  • orthodenticle homolog 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 OTX2?

deficiency ; dysplasia ; embryonic ; gene ; homeobox ; hormone ; hypoplasia ; pituitary gland ; protein ; reproduction ; 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 (7 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: March 2010
Published: February 1, 2016