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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed July 2008

What is the official name of the PAX2 gene?

The official name of this gene is “paired box 2.”

PAX2 is the gene's official symbol. The PAX2 gene is also known by other names, listed below.

What is the normal function of the PAX2 gene?

The PAX2 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development. The members of the PAX gene family are also important for maintaining the normal function of certain cells after birth. To carry out these roles, the PAX genes provide instructions for making proteins that attach to specific areas of DNA and help control the activity (expression) of particular genes. On the basis of this action, PAX proteins are called transcription factors.

During embryonic development, the PAX2 gene provides instructions for producing a protein that is involved in the formation of the eye, ear, brain and spinal cord (central nervous system), kidney, and genital tract. After birth, the PAX2 protein is thought to protect against cell death during periods of cellular stress.

Does the PAX2 gene share characteristics with other genes?

The PAX2 gene belongs to a family of genes called homeobox (homeoboxes). It also belongs to a family of genes called PAX (paired 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 PAX2 gene related to health conditions?

renal coloboma syndrome - caused by mutations in the PAX2 gene

More than 20 mutations in the PAX2 gene have been found to cause renal coloboma syndrome. Most mutations are specific to each affected family; however, one mutation has been found in multiple affected individuals. This mutation inserts one DNA building block (nucleotide) into the PAX2 gene (written as 619insG). Most mutations occur in the region of the protein that attaches to DNA, impairing its function as a transcription factor. A lack of functional PAX2 protein disrupts the formation of certain tissues (particularly the kidneys and eyes) during embryonic development, causing the signs and symptoms of renal coloboma syndrome.

cancers - associated with the PAX2 gene

Alterations in the expression of the PAX2 gene are associated with certain cancers. This altered expression is thought to enhance the gene's ability to protect cells from cell death, allowing for tumor growth (proliferation).

The PAX2 gene is abnormally active (overexpressed) in certain types of cancer of the kidney, prostate, breast, and ovary. Overexpression of the PAX2 gene is also seen in a rare form of kidney cancer called Wilms tumor and a soft tissue cancer called Kaposi sarcoma. Kaposi sarcoma causes cancerous lesions to develop under the skin and in mucous membranes (such as the moist lining of the mouth and digestive tract). Typically, high levels of PAX2 gene expression in cancer cells are associated with a more aggressive cancer.

Where is the PAX2 gene located?

Cytogenetic Location: 10q24

Molecular Location on chromosome 10: base pairs 100,735,708 to 100,829,940

The PAX2 gene is located on the long (q) arm of chromosome 10 at position 24.

The PAX2 gene is located on the long (q) arm of chromosome 10 at position 24.

More precisely, the PAX2 gene is located from base pair 100,735,708 to base pair 100,829,940 on chromosome 10.

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

Where can I find additional information about PAX2?

You and your healthcare professional may find the following resources about PAX2 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 PAX2 gene or gene products?

  • paired box gene 2
  • paired box homeotic gene 2
  • paired box protein 2

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding PAX2?

cancer ; cell ; central nervous system ; digestive ; DNA ; embryonic ; gene ; gene expression ; kidney ; mucous ; mutation ; nervous system ; nucleotide ; ovary ; proliferation ; prostate ; protein ; renal ; sarcoma ; soft tissue ; stress ; syndrome ; tissue ; transcription ; transcription factor ; tumor ; Wilms tumor

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


  • Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Augé J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attié-Bitach T. PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Eur J Hum Genet. 2000 Nov;8(11):820-6. (
  • Daniel L, Lechevallier E, Giorgi R, Sichez H, Zattara-Cannoni H, Figarella-Branger D, Coulange C. Pax-2 expression in adult renal tumors. Hum Pathol. 2001 Mar;32(3):282-7. (
  • Eccles MR, He S, Legge M, Kumar R, Fox J, Zhou C, French M, Tsai RW. PAX genes in development and disease: the role of PAX2 in urogenital tract development. Int J Dev Biol. 2002;46(4):535-44. Review. (
  • Gene Review: Renal Coloboma Syndrome (
  • Muratovska A, Zhou C, He S, Goodyer P, Eccles MR. Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival. Oncogene. 2003 Sep 11;22(39):7989-97. (
  • NCBI Gene (
  • Schimmenti LA, Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet. 2003 Dec;24(4):191-202. (


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: July 2008
Published: March 23, 2015