PAX2A gene on 10q24 that encodes a human homologue of Drosophila melanogaster gene prd. This family of transcription factor genes have a conserved DNA-binding paired box domain. PAX2 is thought to be a target of transcriptional suppression by the tumour suppressor gene WT1.
PAX2 mutations cause optic nerve colobomas and renal hypoplasia. PAX2 distinguishes benign mesonephric and mullerian glandular lesions of the cervix from endocervical adenocarcinoma, including minimal deviation adenocarcinoma.