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 supression by the tumor supressor 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]

PAX2

Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634).
Has a critical role in the development of the urogenital tract, the eyes, and the CNS.

AgingIEA:Ensembl
Anatomical structure developmentManual Assertion Based On ExperimentIBA:GO_Central
AxonogenesisManual Assertion Based On ExperimentTAS:ProtInc
Brain morphogenesisISS:UniProtKB
Branching involved in ureteric bud morphogenesisManual Assertion Based On ExperimentIEP:UniProtKB
Camera-type eye developmentISS:UniProtKB
Cell fate determinationISS:UniProtKB
Cellular response to epidermal growth factor stimulusIEA:Ensembl
Cellular response to glucose stimulusISS:UniProtKB
Cellular response to hydrogen peroxideISS:UniProtKB
Cellular response to retinoic acidISS:UniProtKB
Cochlea developmentISS:UniProtKB
Cochlea morphogenesisISS:UniProtKB
Glial cell differentiationISS:UniProtKB
Inner ear morphogenesisISS:UniProtKB
Mesenchymal to epithelial transitionISS:UniProtKB
Mesenchymal to epithelial transition involved in metanephros morphogenesisISS:UniProtKB
Mesodermal cell fate specificationISS:UniProtKB
Mesonephros developmentISS:UniProtKB
Metanephric collecting duct developmentISS:UniProtKB
Metanephric distal convoluted tubule developmentISS:UniProtKB
Metanephric epithelium developmentManual Assertion Based On ExperimentIEP:UniProtKB
Metanephric mesenchymal cell differentiationISS:UniProtKB
Metanephric mesenchyme developmentISS:UniProtKB
Metanephric nephron tubule formationISS:UniProtKB
Negative regulation of apoptotic processManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of apoptotic process involved in metanephric collecting duct developmentISS:UniProtKB
Negative regulation of apoptotic process involved in metanephric nephron tubule developmentISS:UniProtKB
Negative regulation of cysteine-type endopeptidase activity involved in apoptotic processManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesisISS:UniProtKB
Negative regulation of mesenchymal cell apoptotic process involved in metanephros developmentISS:UniProtKB
Negative regulation of programmed cell deathISS:UniProtKB
Negative regulation of reactive oxygen species metabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIMP:UniProtKB
Nephric duct formationISS:UniProtKB
Neural tube closureISS:UniProtKB
Optic chiasma developmentISS:UniProtKB
Optic cup morphogenesis involved in camera-type eye developmentISS:UniProtKB
Optic nerve developmentISS:UniProtKB
Optic nerve morphogenesisISS:UniProtKB
Optic nerve structural organizationISS:UniProtKB
Positive regulation of branching involved in ureteric bud morphogenesisISS:UniProtKB
Positive regulation of epithelial cell proliferationManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisISS:UniProtKB
Positive regulation of metanephric DCT cell differentiationISS:UniProtKB
Positive regulation of metanephric glomerulus developmentISS:UniProtKB
Positive regulation of optic nerve formationISS:UniProtKB
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
Pronephric field specificationISS:UniProtKB
Pronephros developmentISS:UniProtKB
Protein kinase B signalingISS:UniProtKB
Reactive oxygen species metabolic processISS:UniProtKB
Regulation of metanephric nephron tubule epithelial cell differentiationISS:UniProtKB
Regulation of metanephros sizeManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Response to nutrient levelsIEA:Ensembl
Retinal pigment epithelium developmentISS:UniProtKB
Stem cell differentiationISS:UniProtKB
Ureter developmentISS:UniProtKB
Ureter maturationISS:UniProtKB
Urogenital system developmentISS:UniProtKB
Vestibulocochlear nerve formationISS:UniProtKB
Visual perceptionManual Assertion Based On ExperimentTAS:ProtInc

Nucleus

Papillorenal syndrome (PAPRS):
An autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, designated optic nerve coloboma or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease.
Focal segmental glomerulosclerosis 7 (FSGS7):
A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.