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 supression 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. [provided by RefSeq, Dec 2014],developmental stage:Mainly in fetal kidney and juvenile nephrogenic rests.,disease:Defects in PAX2 are the cause of renal-coloboma syndrome (RCS) [MIM:120330], also known as papillorenal syndrome or optic nerve coloboma with renal disease. RCS is an autosomal dominant disease characterized by the association of renal hypoplasia, vesicoureteral reflux and dysplasia of the retina and optic disk.,disease:Defects in PAX2 may be responsible for isolated renal hypoplasia as observed in oligomeganephronia (OMN). OMN is a rare congenital and usually sporadic anomaly characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons and without urinary tract abnormalities.,function:Probable transcription factor that may have a role in kidney cell differentiation. Has a critical role in the development of the urogenital tract, the eyes, and the CNS.,similarity:Contains 1 paired domain.,tissue specificity:Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system.,
