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FLASH GENE
Symbol PAX8 contributors: mct/ - updated : 18-11-2017
HGNC name paired box 8
HGNC id 8622
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinethyroid   highly Homo sapiens
Reproductivefemale systemoviduct    Homo sapiensFetal
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine  Homo sapiens
cell lineage
cell lines Wilms tumor cells
fluid/secretion
at STAGE
physiological period embryo, fetal, pregnancy
Text kidney
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