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PAX2

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Identifiers
SymbolsPAX2 ; PAPRS
External IDsOMIM167409 MGI97486 HomoloGene2968 GeneCards: PAX2 Gene
RNA expression pattern
File:PBB GE PAX2 206228 at tn.png
File:PBB GE PAX2 206229 x at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez507618504
EnsemblENSG00000075891ENSMUSG00000004231
UniProtQ02962P32114
RefSeq (mRNA)NM_000278NM_011037
RefSeq (protein)NP_000269NP_035167
Location (UCSC)Chr 10:
102.5 – 102.59 Mb
Chr 19:
44.76 – 44.84 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. 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.

Interactions

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

See also

[5]

[6]
  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. PMID 8431641. doi:10.1007/BF00290430. 
  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. PMID 7981748. doi:10.1038/ng0493-292. 
  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. PMC 102659. PMID 10908331. doi:10.1093/nar/28.14.2741. 
  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

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External links

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