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FLASH GENE
Symbol PAX8 contributors: mct/ - updated : 18-11-2014
HGNC name paired box 8
HGNC id 8622
Corresponding disease
PAX8 congenital hypothyroidism
Location 2q13      Physical location : 113.973.574 - 114.036.498
Synonym name
  • paired box gene 8
  • paired box homeotic gene 8
    • DNA
    TYPE functioning gene
    STRUCTURE 62.93 kb     12 Exon(s)    single Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    FLJ14681 2q13 hypothetical protein FLJ14681 FLJ37440 2q13 hypothetical protein FLJ37440 LOC84524 2q13 zinc finger protein FLJ41410 2q13 FLJ41410 protein LOC389020 2 similar to RAN-binding protein 2-like 1 isoform 1; sperm membrane protein BS-63; RAN-binding protein 2-like 1 TTL 2q13 similar to RAN-binding protein 2-like 1 isoform 1; sperm membrane protein BS-63; RAN-binding protein 2-like 1 POLR1B 2q13 polymerase (RNA)1polypeptide B, 128kDa C2orf9 2q13 chromosome 2 open reading frame 9 SLC20A1 2q11-q14 solute carrier family 20 (phosphate transporter), member 1 FLJ40629 2q14.1 hypothetical protein FLJ40629 IL1A 2q13 interleukin 1, alpha IL1B 2q13 interleukin 1, beta IL1F7 2q12.1-q14.1 interleukin 1 family, member 7 (zeta) IL1F9 2q13 interleukin 1 family, member 9 IL1F6 2q12-q14.1 interleukin 1 family, member 6 (epsilon) IL1F8 2q12-q14.1 interleukin 1 family, member 8 (eta) IL1F5 2q12.1 interleukin 1 family, member 5 (delta) IL1F10 2q12 interleukin 1 family, member 10 (theta) IL1RN 2q13-q14.2 interleukin 1 receptor antagonist TIC 2q13 interleukin 1 receptor antagonist PAX8 2q12-q14 paired box gene 8 LOC391427 2 similar to Ig kappa chain precursor V region (orphon V108) - human (fragment) CBWD2 2q13 COBW domain containing 2 FOXD4L1 2q13 COBW domain containing 2 LOC284964 2q14.1 similar to bA395L14.5 (novel phosphoglucomutase like protein) LOC389021 2 hypothetical gene supported by BC063555 MGC13005 2q14.1 hypothetical protein MGC13005 RPL23AP7 2q14 ribosomal protein L23a pseudogene 7 RABL2A 2q13 RAB, member of RAS oncogene family-like 2A bA395L14.12 2q14.1 u2 small nuclear ribonucleoprotein polypeptide A' pseudogene bA395L14.13 2q14.1 acrosin-like protease SLC35F5 2q14.1 solute carrier family 35, member F5 ACTR3 2q13 ARP3 actin-related protein 3 homolog (yeast) LOC284968 2q14.1 hypothetical LOC284968 LOC391428 2 similar to selenophosphate synthetase 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 4065 48 450 - 1992 1337742
  • also called PAX8A
  • 11 exons
    • 12 splicing 3986 43 398 - 1992 1337742
  • also called PAX8C
  • lack exons 7, 8
    • 10 splicing 3755 - 321 - 1992 1337742
  • also called PAX8D
  • lack exon 8
    • 9 splicing 3653 - 287 - 1992 1337742
  • also called PAX8E
  • lack exons 8.9.10
    		•
    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
    • 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) PAX8
    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