PAX2 gene

paired box 2

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.

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.

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.

Cytogenetic Location: 10q24.31, which is the long (q) arm of chromosome 10 at position 24.31

Molecular Location: base pairs 100,735,709 to 100,829,941 on chromosome 10 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 10q24.31, which is the long (q) arm of chromosome 10 at position 24.31
  • paired box gene 2
  • paired box homeotic gene 2
  • paired box protein 2