PAX2
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. Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. 4 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
|
Chromosomal Location of human Ortholog: 10q24.31 |
Cellular Component:
centriolar satellite; chromatin; microtubule organizing center; nucleoplasm; nucleus; protein-containing complex; protein-DNA complex
|
Molecular Function:
cis-regulatory region sequence-specific DNA binding; DNA binding; DNA-binding transcription factor activity; DNA-binding transcription factor activity, RNA polymerase II-specific; protein binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; sequence-specific double-stranded DNA binding; transcription cis-regulatory region binding; transcription factor binding
|
Biological Process:
anatomical structure development; axonogenesis; brain morphogenesis; branching involved in ureteric bud morphogenesis; camera-type eye development; cell fate determination; cellular response to epidermal growth factor stimulus; cellular response to glucose stimulus; cellular response to hydrogen peroxide; cellular response to retinoic acid; cochlea development; cochlea morphogenesis; glial cell differentiation; inner ear morphogenesis; mesenchymal to epithelial transition; mesenchymal to epithelial transition involved in metanephros morphogenesis; mesodermal cell fate specification; mesonephros development; metanephric collecting duct development; metanephric distal convoluted tubule development; metanephric epithelium development; metanephric mesenchymal cell differentiation; metanephric mesenchyme development; metanephric nephron tubule formation; negative regulation of apoptotic process; negative regulation of apoptotic process involved in metanephric collecting duct development; negative regulation of apoptotic process involved in metanephric nephron tubule development; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of DNA-templated transcription; negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis; negative regulation of mesenchymal cell apoptotic process involved in metanephros development; negative regulation of programmed cell death; negative regulation of reactive oxygen species metabolic process; nephric duct formation; neural tube closure; optic chiasma development; optic cup morphogenesis involved in camera-type eye development; optic nerve development; optic nerve morphogenesis; optic nerve structural organization; positive regulation of branching involved in ureteric bud morphogenesis; positive regulation of DNA-templated transcription; positive regulation of epithelial cell proliferation; positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis; positive regulation of metanephric DCT cell differentiation; positive regulation of metanephric glomerulus development; positive regulation of optic nerve formation; positive regulation of transcription by RNA polymerase II; pronephric field specification; pronephros development; protein kinase B signaling; reactive oxygen species metabolic process; regulation of metanephric nephron tubule epithelial cell differentiation; regulation of metanephros size; regulation of transcription by RNA polymerase II; response to nutrient levels; retinal pigment epithelium development; stem cell differentiation; ureter development; ureter maturation; urogenital system development; vestibulocochlear nerve formation; visual perception
|
Disease: Focal Segmental Glomerulosclerosis 7; Papillorenal Syndrome
|
Reference #:
Q02962
(UniProtKB)
|
Alt. Names/Synonyms: FSGS7; paired box 2; paired box homeotic gene 2; Paired box protein Pax-2; PAPRS; PAX2
|
Gene Symbols: PAX2
|
Molecular weight:
44,706 Da
|
Basal Isoelectric point:
7.25
Predict pI for various phosphorylation states
|
Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
|