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Gene Review

PAX2  -  paired box 2

Homo sapiens

Synonyms: FSGS7, PAPRS, Paired box protein Pax-2
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Disease relevance of PAX2


Psychiatry related information on PAX2


High impact information on PAX2

  • The phenotype resulting from the PAX2 mutation in this family was very similar to abnormalities that have been reported in Krd mutant mice [1].
  • The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system [1].
  • The developmental gene, PAX2, located within this region, is an attractive candidate gene [7].
  • The anterior border of the tectum might be determined as a result of repressive interaction of Pax6 with En1 and Pax2 [8].
  • It is proposed that the brain vesicle that expresses Otx2, Pax2 and En1 might differentiate into the tectum [8].

Chemical compound and disease context of PAX2


Biological context of PAX2


Anatomical context of PAX2

  • In contrast, PAX2 expression was present mainly in the very early stages of differentiation, in the induced, condensing mesenchyme [14].
  • We demonstrate that WT1 mislocalization is associated with abnormal podocyte expression of PAX2 protein and RNA [15].
  • Endothelial cells transfected with sense PAX2 acquired spindle shape morphology, showed enhanced motility and Matrigel invasion, and displayed an enhanced expression of alphavbeta3 integrin [3].
  • PAX2 encodes a transcription factor of the paired box class of DNA binding proteins, important for the development of the urogenital tract, optic nerve and adjacent retina, inner ear, and CNS [16].
  • By somatic cell hybrid mapping, the PAX2 gene was localized to chromosome 10q22.1-q24.3, although this region has not previously been implicated in Wilms' tumor [17].

Associations of PAX2 with chemical compounds

  • To determine whether restoration of antiapoptotic factors alone is sufficient to rescue the nephron deficit in these mice, a BCL2 transgene that is under the control of the PAX2 promoter was targeted to the ureteric bud [18].
  • In the mouse, mammary parenchyma with a targeted deletion of PAX2 developed normal ductal systems when grafted into wild-type host mammary fat pads, but failed to undergo higher order side-branching and lobular development in response to progesterone [9].
  • In addition to a DNA binding domain, the Pax2 protein contains a carboxyl-terminal transactivation domain rich in serine, threonine, and tyrosine [19].
  • In this study we hypothesized that PAX2 activates expression of WNT4, a secreted glycoprotein known to be critical for successful nephrogenesis [20].
  • PAX2 inactivation enhances cisplatin-induced apoptosis in renal carcinoma cells [21].

Co-localisations of PAX2


Regulatory relationships of PAX2


Other interactions of PAX2

  • Furthermore, it was indicated that PAX2, GFRA1, and EMX2 on distal 10q, in which the deletions could affect urinary and/or genital development, were present in two copies in cases 1 through 8 [25].
  • We have also assigned two previously known genes, PAX2 and CYP17, more precisely into this region, but the sequence analysis of coding regions of these two genes has not revealed mutations in an IOSCA patient [26].
  • RNA samples were electrophoretically separated in 1.2% agarose gels, transferred to nylon membranes, and hybridized to random primer-labeled PAX2, PAX8, and WT1 probes [27].
  • Comparative in situ hybridization analysis of PAX2, PAX8, and WT1 gene transcription in human fetal kidney and Wilms' tumors [28].
  • The entire coding regions of PAX2 and PAX6 were screened for mutations [29].

Analytical, diagnostic and therapeutic context of PAX2


  1. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Sanyanusin, P., Schimmenti, L.A., McNoe, L.A., Ward, T.A., Pierpont, M.E., Sullivan, M.J., Dobyns, W.B., Eccles, M.R. Nat. Genet. (1995) [Pubmed]
  2. Cloning and characterization of the human PAX2 promoter. Stayner, C.K., Cunliffe, H.E., Ward, T.A., Eccles, M.R. J. Biol. Chem. (1998) [Pubmed]
  3. Role of Pax2 in apoptosis resistance and proinvasive phenotype of Kaposi's sarcoma cells. Buttiglieri, S., Deregibus, M.C., Bravo, S., Cassoni, P., Chiarle, R., Bussolati, B., Camussi, G. J. Biol. Chem. (2004) [Pubmed]
  4. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Schimmenti, L.A., Manligas, G.S., Sieving, P.A. Ophthalmic Genet. (2003) [Pubmed]
  5. Loss of VHL and hypoxia provokes PAX2 up-regulation in clear cell renal cell carcinoma. Luu, V.D., Boysen, G., Struckmann, K., Casagrande, S., von Teichman, A., Wild, P.J., Sulser, T., Schraml, P., Moch, H. Clin. Cancer Res. (2009) [Pubmed]
  6. Expression of PAX2 gene during human development. Terzić, J., Muller, C., Gajović, S., Saraga-Babić, M. Int. J. Dev. Biol. (1998) [Pubmed]
  7. A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. Preston, R.A., Post, J.C., Keats, B.J., Aston, C.E., Ferrell, R.E., Priest, J., Nouri, N., Losken, H.W., Morris, C.A., Hurtt, M.R. Nat. Genet. (1994) [Pubmed]
  8. Regionalization of the optic tectum: combinations of gene expression that define the tectum. Nakamura, H. Trends Neurosci. (2001) [Pubmed]
  9. Expression of the PAX2 oncogene in human breast cancer and its role in progesterone-dependent mammary growth. Silberstein, G.B., Dressler, G.R., Van Horn, K. Oncogene (2002) [Pubmed]
  10. Hypomethylation-linked activation of PAX2 mediates tamoxifen-stimulated endometrial carcinogenesis. Wu, H., Chen, Y., Liang, J., Shi, B., Wu, G., Zhang, Y., Wang, D., Li, R., Yi, X., Zhang, H., Sun, L., Shang, Y. Nature (2005) [Pubmed]
  11. PAX2 gene mutation in a family with isolated renal hypoplasia. Nishimoto, K., Iijima, K., Shirakawa, T., Kitagawa, K., Satomura, K., Nakamura, H., Yoshikawa, N. J. Am. Soc. Nephrol. (2001) [Pubmed]
  12. The paired-box transcription factor, PAX2, positively modulates expression of the Wilms' tumor suppressor gene (WT1). Dehbi, M., Ghahremani, M., Lechner, M., Dressler, G., Pelletier, J. Oncogene (1996) [Pubmed]
  13. Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival. Muratovska, A., Zhou, C., He, S., Goodyer, P., Eccles, M.R. Oncogene (2003) [Pubmed]
  14. PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors. Poleev, A., Fickenscher, H., Mundlos, S., Winterpacht, A., Zabel, B., Fidler, A., Gruss, P., Plachov, D. Development (1992) [Pubmed]
  15. WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. Yang, Y., Jeanpierre, C., Dressler, G.R., Lacoste, M., Niaudet, P., Gubler, M.C. Am. J. Pathol. (1999) [Pubmed]
  16. The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. Cunliffe, H.E., McNoe, L.A., Ward, T.A., Devriendt, K., Brunner, H.G., Eccles, M.R. J. Med. Genet. (1998) [Pubmed]
  17. Expression of the PAX2 gene in human fetal kidney and Wilms' tumor. Eccles, M.R., Wallis, L.J., Fidler, A.E., Spurr, N.K., Goodfellow, P.J., Reeve, A.E. Cell Growth Differ. (1992) [Pubmed]
  18. Suppression of ureteric bud apoptosis rescues nephron endowment and adult renal function in Pax2 mutant mice. Dziarmaga, A., Eccles, M., Goodyer, P. J. Am. Soc. Nephrol. (2006) [Pubmed]
  19. Phosphorylation of Pax2 by the c-Jun N-terminal kinase and enhanced Pax2-dependent transcription activation. Cai, Y., Lechner, M.S., Nihalani, D., Prindle, M.J., Holzman, L.B., Dressler, G.R. J. Biol. Chem. (2002) [Pubmed]
  20. PAX2 Activates WNT4 Expression during Mammalian Kidney Development. Torban, E., Dziarmaga, A., Iglesias, D., Chu, L.L., Vassilieva, T., Little, M., Eccles, M., Discenza, M., Pelletier, J., Goodyer, P. J. Biol. Chem. (2006) [Pubmed]
  21. PAX2 inactivation enhances cisplatin-induced apoptosis in renal carcinoma cells. Hueber, P.A., Waters, P., Clarke, P., Eccles, M., Goodyer, P. Kidney Int. (2006) [Pubmed]
  22. Expression of nuclear transcription factor PAX2 in renal biopsies of juvenile nephronophthisis. Murer, L., Caridi, G., Della Vella, M., Montini, G., Carasi, C., Ghiggeri, G., Zacchello, G. Nephron (2002) [Pubmed]
  23. Establishing neuronal identity in vertebrate neurogenic placodes. Baker, C.V., Bronner-Fraser, M. Development (2000) [Pubmed]
  24. Isolation of renal progenitor cells from adult human kidney. Bussolati, B., Bruno, S., Grange, C., Buttiglieri, S., Deregibus, M.C., Cantino, D., Camussi, G. Am. J. Pathol. (2005) [Pubmed]
  25. Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Ogata, T., Muroya, K., Sasagawa, I., Kosho, T., Wakui, K., Sakazume, S., Ito, K., Matsuo, N., Ohashi, H., Nagai, T. Kidney Int. (2000) [Pubmed]
  26. Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24. Nikali, K., Isosomppi, J., Lönnqvist, T., Mao, J.I., Suomalainen, A., Peltonen, L. Genomics (1997) [Pubmed]
  27. Paired box gene expression in Wilms' tumor. Tagge, E.P., Hanson, P., Re, G.G., Othersen, H.B., Smith, C.D., Garvin, A.J. J. Pediatr. Surg. (1994) [Pubmed]
  28. Comparative in situ hybridization analysis of PAX2, PAX8, and WT1 gene transcription in human fetal kidney and Wilms' tumors. Eccles, M.R., Yun, K., Reeve, A.E., Fidler, A.E. Am. J. Pathol. (1995) [Pubmed]
  29. Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation. Higashide, T., Wada, T., Sakurai, M., Yokoyama, H., Sugiyama, K. Am. J. Ophthalmol. (2005) [Pubmed]
  30. Genomic structure of the human PAX2 gene. Sanyanusin, P., Norrish, J.H., Ward, T.A., Nebel, A., McNoe, L.A., Eccles, M.R. Genomics (1996) [Pubmed]
  31. De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. Yoshimura, K., Yoshida, S., Yamaji, Y., Komori, A., Yoshida, A., Hatae, K., Kubota, T., Ishibashi, T. Am. J. Ophthalmol. (2005) [Pubmed]
  32. PAX2: a reliable marker for nephrogenic adenoma. Tong, G.X., Melamed, J., Mansukhani, M., Memeo, L., Hernandez, O., Deng, F.M., Chiriboga, L., Waisman, J. Mod. Pathol. (2006) [Pubmed]
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