Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
SOX2

SOX2

Reviewed March 2009

What is the official name of the SOX2 gene?

The official name of this gene is “SRY (sex determining region Y)-box 2.”

SOX2 is the gene's official symbol. The SOX2 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 SOX2 gene?

The SOX2 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX2 protein is especially important for the development of the eyes. This protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the SOX2 protein is called a transcription factor.

Does the SOX2 gene share characteristics with other genes?

The SOX2 gene belongs to a family of genes called SOX (SRY (sex determining region Y)-boxes).

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 SOX2 gene related to health conditions?

SOX2 anophthalmia syndrome - caused by mutations in the SOX2 gene

At least 33 mutations in the SOX2 gene have been found to cause SOX2 anophthalmia syndrome. Some of these mutations prevent the gene from making any SOX2 protein, while others result in the production of an abnormally short, nonfunctional version of the protein. A few mutations change single protein building blocks (amino acids) in the SOX2 protein. All of these mutations disrupt the protein's ability to regulate genes essential for normal development of the eyes and other parts of the body. Abnormal development of these structures causes the signs and symptoms of SOX2 anophthalmia syndrome.

Genetics Home Reference provides information about these additional conditions, which are also associated with changes in the SOX2 gene:

Where is the SOX2 gene located?

Cytogenetic Location: 3q26.3-q27

Molecular Location on chromosome 3: base pairs 181,711,923 to 181,714,435

The SOX2 gene is located on the long (q) arm of chromosome 3 between positions 26.3 and 27.

The SOX2 gene is located on the long (q) arm of chromosome 3 between positions 26.3 and 27.

More precisely, the SOX2 gene is located from base pair 181,711,923 to base pair 181,714,435 on chromosome 3.

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

Where can I find additional information about SOX2?

You and your healthcare professional may find the following resources about SOX2 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 SOX2 gene or gene products?

  • ANOP3
  • MCOPS3
  • MGC2413
  • sex-determining region Y-box 2
  • SOX2_HUMAN
  • SRY-related HMG-box gene 2
  • transcription factor SOX2

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 SOX2?

acids ; anophthalmia ; deficiency ; DNA ; dysplasia ; embryonic ; gene ; hormone ; hypogonadism ; protein ; syndrome ; 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 (9 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 2009
Published: December 16, 2014