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Description for Protein PAX6

paired box 6
32 total interacting proteins; 7 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA, and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding either the same or different isoform have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • HOX: Homeodomain
  • PAX: Paired Box domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08031
    KEGG - Pathway(s):
    hsa04950
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    AN2; AN; MGC17209; MGDA; WAGR; Paired box homeotic gene 6; Oculorhombin; Paired box protein Pax 6; Aniridia type II protein; Paired box gene 6 isoform b; Paired box gene 6 isoform a
    Approved Symbol:
    PAX6
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 8
    Human (de-) phosphorylation sites: 8; 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:

  • Aniridia(Pd);
  • Aniridia, type II(Pd);
  • Cataracts, congenital, with late-onset corneal dystrophy(Pd);
  • Coloboma of optic nerve(Pd);
  • Ectopia pupillae(Pd);
  • Eye anomalies, multiplex(Pd);
  • Foveal hypoplasia and presenile cataract syndrome(Pd);
  • Foveal hypoplasia with anterior segment anomalies(Pd);
  • Foveal hypoplasia, isolated(Pd);
  • Keratitis, autosomal dominant(Pd);
  • Morning glory disc anomaly(Pd);
  • Optic nerve aplasia, bilateral(Pd);
  • Optic nerve hypoplasia, bilateral(Pd);
  • Peters anomaly(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06167 Entrez Gene ID: 5080 OMIM ID: 607108 Swissprot Accession: P26367; Q66SS1;