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Title: Pax2  
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Subject: Pax genes, Atrichia with papular lesions, HER2/neu, Rapp–Hodgkin syndrome, Tooth and nail syndrome
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Paired box 2

PDB rendering based on 1k78.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols  ; PAPRS
External IDs GeneCards:
RNA expression pattern
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Paired box gene 2, also known as PAX2 is a protein which in humans is encoded by the PAX2 gene.[1][2]


  • Function 1
  • Clinical significance 2
  • Interactions 3
  • See also 4
  • Further reading 5
  • External links 6


PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional suppression by the tumor suppressor gene WT1. Pax 2 is a transcription factor controlled by the signaling molecules Wnt1 and Fgf8. Pax2 along with other transcription factors Pax5, Pax8, En1, and En 2 are expressed across the Otx2-Gbx2 boundary in the mid-hindbrain region. These transcription factors work with the signaling molecules Wnt1 and Fgf8 to maintain the MHB organizer. The MHB controls midbrain and cerebellum development. Pax2 is the earliest known gene to be expressed across the Otx2-Gbx2 boundary. It is first expressed in the late primitive streak stage and is expressed in a narrow ring centered at the MHB during somitogenesis. Transgene expression of the mid-hindbrain and developing kidney is directed by Pax2. There are three distinct MHB-specific enhancers in the upstream region of Pax2. Expression at the MHB from the four-somite stage onwards is directed by the two late enhancers in the proximal and distal regions of Pax2. The early enhancer located in the intermediate region activates the mid-hindbrain region of late gastrula embryos. The activation of Pax2, Pax5, and Pax8 is a conserved feature of all vertebrates.

Clinical significance

Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants.[3] Pax2 and Pax8 are also necessary for the formation of the pronephros and subsequent kidney structures. Pax2 and Pax8 regulate the expression of Gata3. Without these genes mutations in the urogenital system arise.


PAX2 has been shown to interact with PAXIP1.[4]

See also


  1. ^ Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mamm. Genome 4 (2): 78–82.  
  2. ^ Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (April 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat. Genet. 3 (4): 292–8.  
  3. ^ "Entrez Gene: PAX2 paired box gene 2". 
  4. ^ Lechner, M S; Levitan I; Dressler G R (July 2000). "PTIP, a novel BRCT domain-containing protein interacts with Pax2 and is associated with active chromatin". Nucleic Acids Res. (ENGLAND) 28 (14): 2741–51.  
  5. ^ Pfeffer, Peter L.; Bernhard Payter; Gerlinde Reim; Marina Pasca di Magliano; Meinrad Busslinger (2001). "The activation and maintenance of Pax2 expression at the mid-hindbrain boundary is controlled by separate enhancers". Development (133): 307–318. 
  6. ^ Grote, David; Souabni, Abdallah, Busslinger, Meinrad, Bouchard, Maxime. "Pax2/8-regulated Gata3 expression is necessary for morphogenesis and guidance of the nephric duct in the developing kidney". Devopment (133): 53–61. 

Data on Xenopus pax2 from Xenbase; [3]

Further reading

  • Noll M (1993). "Evolution and role of Pax genes.". Curr. Opin. Genet. Dev. 3 (4): 595–605.  
  • Dahl E, Koseki H, Balling R (1997). "Pax genes and organogenesis.". Bioessays 19 (9): 755–65.  
  • Eccles MR, He S, Legge M, et al. (2003). "PAX genes in development and disease: the role of PAX2 in urogenital tract development.". Int. J. Dev. Biol. 46 (4): 535–44.  
  • Eccles MR, Wallis LJ, Fidler AE, et al. (1992). "Expression of the PAX2 gene in human fetal kidney and Wilms' tumor.". Cell Growth Differ. 3 (5): 279–89.  
  • Sanyanusin P, Schimmenti LA, McNoe LA, et al. (1995). "Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.". Nat. Genet. 9 (4): 358–64.  
  • Ward TA, Nebel A, Reeve AE, Eccles MR (1995). "Alternative messenger RNA forms and open reading frames within an additional conserved region of the human PAX-2 gene.". Cell Growth Differ. 5 (9): 1015–21.  
  • Stapleton P, Weith A, Urbánek P, et al. (1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.". Nat. Genet. 3 (4): 292–8.  
  • Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes.". Mamm. Genome 4 (2): 78–82.  
  • Sanyanusin P, McNoe LA, Sullivan MJ, et al. (1996). "Mutation of PAX2 in two siblings with renal-coloboma syndrome.". Hum. Mol. Genet. 4 (11): 2183–4.  
  • Sanyanusin P, Norrish JH, Ward TA, et al. (1996). "Genomic structure of the human PAX2 gene.". Genomics 35 (1): 258–61.  
  • Dehbi M, Ghahremani M, Lechner M, et al. (1996). "The paired-box transcription factor, PAX2, positively modulates expression of the Wilms' tumor suppressor gene (WT1).". Oncogene 13 (3): 447–53.  
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806.  
  • Schimmenti LA, Cunliffe HE, McNoe LA, et al. (1997). "Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.". Am. J. Hum. Genet. 60 (4): 869–78.  
  • Narahara K, Baker E, Ito S, 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.". J. Med. Genet. 34 (3): 213–6.  
  • Tavassoli K, Rüger W, Horst J (1998). "Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus.". Hum. Genet. 101 (3): 371–5.  
  • Stayner CK, Cunliffe HE, Ward TA, Eccles MR (1998). "Cloning and characterization of the human PAX2 promoter.". J. Biol. Chem. 273 (39): 25472–9.  
  • Devriendt K, Matthijs G, Van Damme B, et al. (1998). "Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).". Hum. Genet. 103 (2): 149–53.  
  • Schimmenti LA, Shim HH, Wirtschafter JD, et al. (2000). "Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.". Hum. Mutat. 14 (5): 369–76.  

External links

  • GeneReviews/NCBI/NIH/UW entry on Renal Coloboma Syndrome
  • PAX2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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