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Home > A. Molecular pathology > PAX2


MIM.167409 10q24.3-q25.1

Monday 9 May 2005


- PAX2, SOX9 cartography of the Developing Urogenital System

Expression in normal cells

- renal medullary epithelial cells (15623552)

Expression in tumors

- renal cell carcinomas (RCCs )

  • PAX2 stains less subtypes of renal cell carcinoma, and is less likely to stain mullerian carcinomas than PAX8.


- germline mutations of APX2 in

  • optic disk dysplasia
    • bilateral colobomatous disk anomaly
  • foveal hypoplasia
  • pigmented macular atrophy
  • macular anomalies (15652857)
  • optic disk anomalies (15652857)
    • bilateral colobomatous disk anomaly
  • horizontal nystagmus
  • poor visual acuity
  • foveal hypoplasia
  • bilaterally impaired vision
  • optic disk dysplasia
  • foveolar hypoplasia

- renal anomalies

- Chiari 1 malformation (10533062)

See also

- PAXs (PAX6 )

References > Pathology

- Gupta R, Balzer B, Picken M, Osunkoya A, Shet T, Alsabeh R, Luthringer D, Paner GP, Amin MB. Diagnostic Implications of Transcription Factor Pax 2 Protein and Transmembrane Enzyme Complex Carbonic Anhydrase IX Immunoreactivity in Adult Renal Epithelial Neoplasms. Am J Surg Pathol. 2008 Oct 20. PMID: 18941400

References > Genetics

- Stayner C, Iglesias DM, Goodyer PR, Ellis L, Germino G, Zhou J, Eccles MR. Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease. Hum Mol Genet. 2006 Dec 15;15(24):3520-8. PMID: 17082250


- Kozmik Z. Pax genes in eye development and evolution. Curr Opin Genet Dev. 2005 Aug;15(4):430-8. PMID: 15950457

- Eccles, M. R.; He, S.; Legge, M.; Kumar, R.; Fox, J.; Zhou, C.; French, M.; Tsai, R. W. S. : PAX genes in development and disease: the role of PAX2 in urogenital tract development. Int. J. Dev. Biol. 46: 535-544, 2002. PubMed ID : 12141441

- Murer L, Caridi G, Della Vella M, Montini G, Carasi C, Ghiggeri G, Zacchello G. Expression of nuclear transcription factor PAX2 in renal biopsies of juvenile nephronophthisis. Nephron. 2002 Aug;91(4):588-93. PMID: 12138259

- Salomon R, Tellier AL, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler MC, Broyer M. PAX2 mutations in oligomeganephronia. Kidney Int. 2001 Feb;59(2):457-62. PMID: 11168927