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Genetics Home Reference: your guide to understanding genetic conditions
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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.

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) 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.

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

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 (http://www.ghr.nlm.nih.gov/glossary).

References

  • Alatzoglou KS, Kelberman D, Dattani MT. The role of SOX proteins in normal pituitary development. J Endocrinol. 2009 Mar;200(3):245-58. doi: 10.1677/JOE-08-0447. Epub 2008 Dec 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19074474?dopt=Abstract)
  • Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2007 Nov;91(11):1471-6. Epub 2007 May 23. (http://www.ncbi.nlm.nih.gov/pubmed/17522144?dopt=Abstract)
  • Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause anophthalmia. Nat Genet. 2003 Apr;33(4):461-3. Epub 2003 Mar 3. (http://www.ncbi.nlm.nih.gov/pubmed/12612584?dopt=Abstract)
  • Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, Cavallo L, Faienza MF, Fischetto R, Achermann JC, Martinez-Barbera JP, Rizzoti K, Lovell-Badge R, Robinson IC, Gerrelli D, Dattani MT. SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J Clin Endocrinol Metab. 2008 May;93(5):1865-73. doi: 10.1210/jc.2007-2337. Epub 2008 Feb 19. (http://www.ncbi.nlm.nih.gov/pubmed/18285410?dopt=Abstract)
  • Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC, Dattani MT. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Sep;116(9):2442-55. Epub 2006 Aug 24. (http://www.ncbi.nlm.nih.gov/pubmed/16932809?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6657)
  • Tziaferi V, Kelberman D, Dattani MT. The role of SOX2 in hypogonadotropic hypogonadism. Sex Dev. 2008;2(4-5):194-9. doi: 10.1159/000152035. Epub 2008 Nov 5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18987493?dopt=Abstract)
  • Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet. 2006 May 1;15(9):1413-22. Epub 2006 Mar 16. Erratum in: Hum Mol Genet. 2006 Jun 15;15(12):2030. (http://www.ncbi.nlm.nih.gov/pubmed/16543359?dopt=Abstract)
  • Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis. 2008 Mar 24;14:583-92. (http://www.ncbi.nlm.nih.gov/pubmed/18385794?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2009
Published: October 9, 2014