Paired box 2
PAX2 encodes a transcription factor that among others regulates expression of the WT1 gene. Mutations cause autosomal dominant papillorenal syndrome.
Genetests:
Related Diseases:
References:
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Stapleton P et al. (1993) Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.
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Cai Q et al. (2005) Pax2 expression occurs in renal medullary epithelial cells in vivo and in cell culture, is osmoregulated, and promotes osmotic tolerance.
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Wu H et al. (2005) Hypomethylation-linked activation of PAX2 mediates tamoxifen-stimulated endometrial carcinogenesis.
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Weber S et al. (2006) Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
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Hurtado A et al. (2008) Regulation of ERBB2 by oestrogen receptor-PAX2 determines response to tamoxifen.
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Dressler GR et al. (1990) Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system.
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Ryan G et al. (1995) Repression of Pax-2 by WT1 during normal kidney development.
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Ward TA et al. (1994) Alternative messenger RNA forms and open reading frames within an additional conserved region of the human PAX-2 gene.
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Keller SA et al. (1994) Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus.
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Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome.
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Pilz AJ et al. (1993) Mapping of the human homologs of the murine paired-box-containing genes.
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Sanyanusin P et al. (1996) Genomic structure of the human PAX2 gene.
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13. |
Dehbi M et al. (1996) The paired-box transcription factor, PAX2, positively modulates expression of the Wilms' tumor suppressor gene (WT1).
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Favor J et al. (1996) The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney.
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Schimmenti LA et al. (1997) Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.
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Narahara K et al. (1997) Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.
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Devriendt K et al. (1998) Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).
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Yang Y et al. (1999) WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis.
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19. |
Gough SM et al. (2003) Refined physical map of the human PAX2/HOX11/NFKB2 cancer gene region at 10q24 and relocalization of the HPV6AI1 viral integration site to 14q13.3-q21.1.
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20. |
Tellier AL et al. (2000) Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.
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Schimmenti LA et al. (1999) Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
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Amiel J et al. (2000) PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
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Ford B et al. (2001) Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.
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Nishimoto K et al. (2001) PAX2 gene mutation in a family with isolated renal hypoplasia.
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Chung GW et al. (2001) Renal-coloboma syndrome: report of a novel PAX2 gene mutation.
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Higashide T et al. (2005) Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.
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Martinovic-Bouriel J et al. (2010) PAX2 mutations in fetal renal hypodysplasia.
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Bower M et al. (2012) Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
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Weaver RG et al. (1988) Optic nerve coloboma associated with renal disease.
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30. |
Sanyanusin P et al. (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
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Schimmenti LA et al. (1995) Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
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Sanyanusin P et al. (1995) Mutation of PAX2 in two siblings with renal-coloboma syndrome.
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Porteous S et al. (2000) Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.
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Salomon R et al. (2001) PAX2 mutations in oligomeganephronia.
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Eccles MR et al. (2002) PAX genes in development and disease: the role of PAX2 in urogenital tract development.
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Patek CE et al. (2003) Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis.
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Orphanet article
Orphanet ID 124088
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NCBI article
NCBI 5076
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OMIM.ORG article
Omim 167409
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Wikipedia article
Wikipedia EN (PAX2)
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Update: Aug. 14, 2020