paired box 2(PAX2) Homo sapiens 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],
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Function:
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.
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Cellular Localization:
Nuclear
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Tissue Expression:
Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system.