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Paired box gene 2

PDB rendering based on 1k78.
Available structures
1k78, 1mdm
Symbols PAX2;
External IDs OMIM167409 MGI97486 HomoloGene2968 GeneCards: PAX2 Gene
RNA expression pattern
PBB GE PAX2 206228 at tn.png
PBB GE PAX2 206229 x at tn.png
More reference expression data
Species Human Mouse
Entrez 5076 18504
Ensembl ENSG00000075891 ENSMUSG00000004231
UniProt Q02962 Q8VHP0
RefSeq (mRNA) NM_000278 NM_011037
RefSeq (protein) NP_000269 NP_035167
Location (UCSC) Chr 10:
102.5 - 102.58 Mb
Chr 19:
44.81 - 44.89 Mb
PubMed search [1] [2]

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



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.

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 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. doi:10.1007/BF00290430. PMID 8431641.  
  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. doi:10.1038/ng0493-292. PMID 7981748.  
  3. ^ "Entrez Gene: PAX2 paired box gene 2".  
  4. ^ Lechner, M S; Levitan I, Dressler G R (Jul. 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. PMID 10908331.  

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. doi:10.1016/0959-437X(93)90095-7. PMID 8241771.  
  • Dahl E, Koseki H, Balling R (1997). "Pax genes and organogenesis.". Bioessays 19 (9): 755–65. doi:10.1002/bies.950190905. PMID 9297966.  
  • 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. PMID 12141441.  
  • 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. PMID 1378753.  
  • 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. doi:10.1038/ng0495-358. PMID 7795640.  
  • 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. PMID 7819127.  
  • 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. doi:10.1038/ng0493-292. PMID 7981748.  
  • 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. doi:10.1007/BF00290430. PMID 8431641.  
  • 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. doi:10.1093/hmg/4.11.2183. PMID 8589702.  
  • Sanyanusin P, Norrish JH, Ward TA, et al. (1996). "Genomic structure of the human PAX2 gene.". Genomics 35 (1): 258–61. doi:10.1006/geno.1996.0350. PMID 8661132.  
  • 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. PMID 8760285.  
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.  
  • 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. PMID 9106533.  
  • 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. doi:10.1136/jmg.34.3.213. PMID 9132492.  
  • 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. doi:10.1007/s004390050644. PMID 9439670.  
  • Stayner CK, Cunliffe HE, Ward TA, Eccles MR (1998). "Cloning and characterization of the human PAX2 promoter.". J. Biol. Chem. 273 (39): 25472–9. doi:10.1074/jbc.273.39.25472. PMID 9738017.  
  • 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. doi:10.1007/s004390050798. PMID 9760197.  
  • 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. doi:10.1002/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E. PMID 10533062.  

External links

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



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