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Description for Protein PAX2

paired box 2
7 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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 supression by the tumor supressor gene WT1. 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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • PAX: Paired Box domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09383
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Paired box gene 2; Paired box protein Pax2; Paired box protein 2 isoform d; Paired box protein 2 isoform b; Paired box protein 2 isoform a; Paired box protein 2 isoform c; Paired box protein 2 isoform e
    Approved Symbol:
    PAX2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Renal hypoplasia, isolated(Pd);
  • Renal-Coloboma syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01330 Entrez Gene ID: 5076 OMIM ID: 167409 Swissprot Accession: Q02962;