PAX2

Paired box 2
PDB rendering based on 1k78.
Available structures PDB 1k78, 1mdm
Identifiers
Symbols	PAX2;
External IDs	OMIM: 167409 MGI: 97486 HomoloGene: 2968 GeneCards: PAX2 Gene
Gene Ontology Molecular function • core promoter proximal region sequence-specific DNA binding • DNA binding • superoxide-generating NADPH oxidase activity • transcription regulatory region DNA binding Cellular component • nucleus • microtubule organizing center • protein-DNA complex • centriolar satellite • protein complex Biological process • urogenital system development • branching involved in ureteric bud morphogenesis • branching involved in ureteric bud morphogenesis • cell fate determination • mesonephros development • neural tube closure • optic cup morphogenesis involved in camera-type eye development • mesenchymal to epithelial transition involved in metanephros morphogenesis • retinal pigment epithelium development • transcription, DNA-dependent • transcription from RNA polymerase II promoter • anti-apoptosis • multicellular organismal development • axonogenesis • mesodermal cell fate specification • visual perception • glial cell differentiation • optic nerve development • optic nerve morphogenesis • optic nerve structural organization • vestibulocochlear nerve formation • regulation of metanephros size • ureter maturation • pronephric field specification • inner ear morphogenesis • camera-type eye development • negative regulation of apoptosis • negative regulation of programmed cell death • negative regulation of caspase activity • protein kinase B signaling cascade • negative regulation of transcription, DNA-dependent • positive regulation of transcription, DNA-dependent • negative regulation of cytolysis • positive regulation of transcription from RNA polymerase II promoter • positive regulation of transcription from RNA polymerase II promoter • pronephros development • brain morphogenesis • stem cell differentiation • positive regulation of epithelial cell proliferation • mesenchymal to epithelial transition • optic chiasma development • cellular response to hydrogen peroxide • cellular response to retinoic acid • cellular response to glucose stimulus • metanephric mesenchyme development • positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis • metanephric mesenchymal cell differentiation • nephric duct formation • ureter development • metanephric collecting duct development • metanephric epithelium development • metanephric distal convoluted tubule development • metanephric nephron tubule formation • positive regulation of metanephric glomerulus development • negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis • regulation of metanephric nephron tubule epithelial cell differentiation • reactive oxygen species metabolic process • cochlea development • positive regulation of branching involved in ureteric bud morphogenesis • negative regulation of reactive oxygen species metabolic process • positive regulation of metanephric DCT cell differentiation • positive regulation of optic nerve formation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5076	18504
Ensembl	ENSG00000075891	ENSMUSG00000004231
UniProt	Q02962	Q8VHP0
RefSeq (mRNA)	NM_000278.3	NM_011037.4
RefSeq (protein)	NP_000269.2	NP_035167.4
Location (UCSC)	Chr 10: 102.51 – 102.59 Mb	Chr 19: 44.83 – 44.91 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]

Function

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]

Interactions

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

See also

• Pax genes

References

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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5076. 
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. doi:10.1093/nar/28.14.2741. PMC 102659. PMID 10908331. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=102659. 

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. PMC 1712484. PMID 9106533. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1712484. 
• 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. PMC 1050895. PMID 9132492. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1050895. 
• 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

• GeneReviews/NCBI/NIH/UW entry on Renal Coloboma Syndrome
• MeSH PAX2+protein,+human

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