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Description for Protein PAX8

paired box 8
6 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [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:
    K09293
    KEGG - Pathway(s):
    hsa05200; hsa05216
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Paired box gene 8; Paired domain gene 8; Paired box protein Pax-8; Paired box gene 8 isoform PAX8A; Paired box gene 8 isoform PAX8B; Paired box gene 8 isoform PAX8C; Paired box gene 8 isoform PAX8D; Paired box gene 8 isoform PAX8E
    Approved Symbol:
    PAX8
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

  • Hypothyroidism, congenital, nongoitrous, 2(Pd);
  • PAX8 polymorphism(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01335 Entrez Gene ID: 7849 OMIM ID: 167415 Swissprot Accession: A8MSW8; Q06710;