Paired Box Gene 2 (PAX2)

PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional suppression by the tumor suppressor gene WT1.

Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants.

Deletion mutagenesis of the WT1 promoter identified an element responsible for mediating PAX2 responsiveness, locating it between nucleotides -33 and -71 relative to the first WT1 transcription start site.