|A service of the U.S. National Library of Medicine®|
On this page:
Reviewed January 2014
What is the official name of the PITX2 gene?
The official name of this gene is “paired like homeodomain 2.”
PITX2 is the gene's official symbol. The PITX2 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 PITX2 gene?
The PITX2 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this action, the PITX2 protein is called a transcription factor. The PITX2 gene is part of a family of homeobox genes, which act during early embryonic development to control the formation of many parts of the body.
The PITX2 protein plays a critical role in early development, particularly in the formation of structures in the front part of the eye (the anterior segment). These structures include the colored part of the eye (the iris), the lens of the eye, and the clear front covering of the eye (the cornea). Studies suggest that the PITX2 protein also has functions in the adult eye, such as helping cells respond to oxidative stress. Oxidative stress occurs when unstable molecules called free radicals accumulate to levels that can damage or kill cells.
The PITX2 protein is also involved in the normal development of other parts of the body, including the teeth, heart, and abdominal organs.
Does the PITX2 gene share characteristics with other genes?
The PITX2 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 PITX2 gene related to health conditions?
Where is the PITX2 gene located?
Cytogenetic Location: 4q25
Molecular Location on chromosome 4: base pairs 110,617,423 to 110,642,123
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The PITX2 gene is located on the long (q) arm of chromosome 4 at position 25.
More precisely, the PITX2 gene is located from base pair 110,617,423 to base pair 110,642,123 on chromosome 4.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PITX2?
You and your healthcare professional may find the following resources about PITX2 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 PITX2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 PITX2?
anterior ; cornea ; DNA ; duplication ; embryonic ; free radicals ; gene ; glaucoma ; homeobox ; homeodomain ; hypoplasia ; mutation ; oxidative stress ; protein ; stress ; syndrome ; transcription ; transcription factor ; tumor
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.