Homo sapiens Protein: PAX2
InnateDB Protein IDBP-86636.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAX2
Protein Name paired box 2
Synonyms FSGS7; PAPRS;
Species Homo sapiens
Ensembl Protein ENSP00000359319
InnateDB Gene IDBG-86634 (PAX2)
Protein Structure
UniProt Annotation
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.
Subcellular Localization Nucleus.
Disease Associations Papillorenal syndrome (PAPRS) [MIM:120330]: 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. {ECO:0000269PubMed:15652857, ECO:0000269PubMed:19954729, ECO:0000269PubMed:22213154, ECO:0000269PubMed:9760197}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in PAX2 can be responsible for isolated renal hypodysplasia and oligomeganephronia (OMN). This 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.
Tissue Specificity Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system.
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000982 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity
GO:0000987 core promoter proximal region sequence-specific DNA binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0016175 superoxide-generating NADPH oxidase activity
GO:0044212 transcription regulatory region DNA binding
GO:0070742 C2H2 zinc finger domain binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001655 urogenital system development
GO:0001656 metanephros development
GO:0001657 ureteric bud development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001709 cell fate determination
GO:0001822 kidney development
GO:0001823 mesonephros development
GO:0001843 neural tube closure
GO:0002072 optic cup morphogenesis involved in camera-type eye development
GO:0003337 mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0003406 retinal pigment epithelium development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007409 axonogenesis
GO:0007417 central nervous system development
GO:0007501 mesodermal cell fate specification
GO:0007568 aging
GO:0007601 visual perception
GO:0008284 positive regulation of cell proliferation
GO:0010001 glial cell differentiation
GO:0021554 optic nerve development
GO:0021631 optic nerve morphogenesis
GO:0021633 optic nerve structural organization
GO:0021650 vestibulocochlear nerve formation
GO:0031016 pancreas development
GO:0031667 response to nutrient levels
GO:0035566 regulation of metanephros size
GO:0035799 ureter maturation
GO:0039003 pronephric field specification
GO:0042472 inner ear morphogenesis
GO:0042981 regulation of apoptotic process
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0043067 regulation of programmed cell death
GO:0043069 negative regulation of programmed cell death
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043491 protein kinase B signaling
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045918 negative regulation of cytolysis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048513 organ development
GO:0048793 pronephros development
GO:0048854 brain morphogenesis
GO:0048863 stem cell differentiation
GO:0050679 positive regulation of epithelial cell proliferation
GO:0055114 oxidation-reduction process
GO:0060231 mesenchymal to epithelial transition
GO:0061205 paramesonephric duct development
GO:0061360 optic chiasma development
GO:0070301 cellular response to hydrogen peroxide
GO:0071260 cellular response to mechanical stimulus
GO:0071300 cellular response to retinoic acid
GO:0071333 cellular response to glucose stimulus
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0072001 renal system development
GO:0072075 metanephric mesenchyme development
GO:0072108 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0072162 metanephric mesenchymal cell differentiation
GO:0072164 mesonephric tubule development
GO:0072172 mesonephric tubule formation
GO:0072177 mesonephric duct development
GO:0072179 nephric duct formation
GO:0072189 ureter development
GO:0072197 ureter morphogenesis
GO:0072205 metanephric collecting duct development
GO:0072207 metanephric epithelium development
GO:0072221 metanephric distal convoluted tubule development
GO:0072289 metanephric nephron tubule formation
GO:0072300 positive regulation of metanephric glomerulus development
GO:0072305 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis
GO:0072307 regulation of metanephric nephron tubule epithelial cell differentiation
GO:0072593 reactive oxygen species metabolic process
GO:0090102 cochlea development
GO:0090103 cochlea morphogenesis
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis
GO:1900212 negative regulation of mesenchymal cell apoptotic process involved in metanephros development
GO:1900215 negative regulation of apoptotic process involved in metanephric collecting duct development
GO:1900218 negative regulation of apoptotic process involved in metanephric nephron tubule development
GO:2000378 negative regulation of reactive oxygen species metabolic process
GO:2000594 positive regulation of metanephric DCT cell differentiation
GO:2000597 positive regulation of optic nerve formation
Cellular Component
GO:0005634 nucleus
GO:0005764 lysosome
GO:0005815 microtubule organizing center
GO:0032993 protein-DNA complex
GO:0034451 centriolar satellite
GO:0043234 protein complex
Protein Structure and Domains
InterPro IPR001523 Paired domain
IPR009057 Homeodomain-like
IPR022130 Paired-box protein 2 C-terminal
PFAM PF00292
Post-translational Modifications
SwissProt Q02962
PhosphoSite PhosphoSite-Q02962
UniProt Splice Variant
Entrez Gene 5076
UniGene Hs.606681
RefSeq NP_003979
OMIM 167409
HPRD 01330
EMBL AL138762 AL589862 CH471066 L09746 L09747 L09748 L25597 M89470 U45245 U45246 U45247 U45248 U45249 U45250 U45251 U45253 U45254 U45255
GenPept AAA36417 AAA60024 AAC41711 AAC63385 CAH70951 CAH70952 CAI17855 CAI17856 EAW49812 EAW49813