PAX2


PAX2
Paired box 2

PDB rendering based on 1k78.
Identifiers
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
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]

Contents

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

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

External links

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




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