PAX2: 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. Interacts with ELGN3; the interaction targets PAX2 for destruction. Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. 4 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 10q24
Cellular Component: protein complex; lysosome; microtubule organizing center; nucleus
Molecular Function: protein binding; DNA binding; superoxide-generating NADPH oxidase activity; transcription factor binding
Biological Process: negative regulation of cytolysis; transcription from RNA polymerase II promoter; optic nerve structural organization; positive regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; negative regulation of caspase activity; cell fate determination; pronephros development; glial cell differentiation; visual perception; vestibulocochlear nerve formation; pancreas development; brain morphogenesis; protein kinase B signaling cascade; negative regulation of programmed cell death; mesonephros development; aging; response to nutrient levels; inner ear morphogenesis; camera-type eye development; transcription, DNA-dependent; optic cup morphogenesis involved in camera-type eye development; stem cell differentiation; optic nerve morphogenesis; axonogenesis; ureteric bud branching; optic nerve development; neural tube closure; mesodermal cell fate specification; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; urogenital system development; positive regulation of epithelial cell proliferation; negative regulation of apoptosis
Disease: Papillorenal Syndrome; Renal Hypodysplasia/aplasia 1; Focal Segmental Glomerulosclerosis 7
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