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FLASH GENE
Symbol PAX8 contributors: mct/ - updated : 18-11-2017
HGNC name paired box 8
HGNC id 8622
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a paired DNA binding domain with a truncated homeo domain, comprising two structurally distinct N terminal (NTS) and C terminal subdomains
  • a truncated helix-turn helix DNA binding domain
  • an intermediary octapeptide motif
  • HOMOLOGY
    interspecies homolog to murine Pax8
    intraspecies homolog to PAX2
    Homologene
    FAMILY
  • paired box protein family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    text
  • expressed in the nuclei of Müllerian glandular epithelial cells
  • basic FUNCTION
  • potential modulator of WT1 expression, in developing central nervous system and regulating thyroglobulin gene transcription (regulation of thyroid cells)
  • able to coordinately transactivate the promoter for both the telomerase catalytic subunit (TERT) and the telomerase RNA component (TERC) genes
  • may have a role in telomerase regulation
  • may play a crucial role in heart development and regulating cardiocyte apoptosis
  • transcriptionally regulates the E2F1 promoter directly, and E2F1 transcription is enhanced after RB1 depletion
  • in cancer, frequent and persistent expression of PAX8 is required for cell growth control through transcriptional activation of E2F1 expression and upregulation of the RB1-E2F1 pathway
  • critical regulator required for proper development and differentiation of thyroid follicular cells
  • important role of the DNA-binding function of PAX8 in the pathogenesis of Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
  • function of the MECOM locus underlies PAX8-driven oncogenic functions in ovarian cancer
  • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text
  • thyroid cell differentiation (development of normal thyroid)
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding (truncated homeodomain)
    RNA
    small molecule
    protein
  • TTF1
  • interacting with EP300 coactivator (mediating the functional synergism between PAX8 and TTF-1 in thyroid-specific gene expression)
  • fusion gene PAX8-PPARgamma disrupts normal transcriptional regulation by stimulating some genes and inhibiting others, and may mediate follicular thyroid cell growth and loss of differentiation that ultimately leads to carcinogenesis
  • binds directly to the TERT and TERC promoters, up-regulating TERT and TERC mRNA, as well as telomerase activity
  • interact with the RB1 protein, and thus regulate the cell cycle directly or indirectly
  • CDH16 is a novel downstream target of the transcription factor PAX8, likely since the early steps of thyroid development, and its expression is associated with the fully differentiated state of the thyroid cell
  • in thyroid cells PAX8 directly binds the Neuropilin-2 promoter leading to its transcriptional repression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHNG2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    chimeric fusion protein 5' - PAX8 - PPARG - 3' by translocation t(2;3) (q13;p25) in thyroid follicular carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS