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FLASH GENE
Symbol PAX9 contributors: mct/npt/pgu - updated : 27-06-2018
HGNC name paired box 9
HGNC id 8623
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a paired DNA binding domain with a truncated homeo domain, comprising two structurally distinct N terminal (NTS), including a homonucleotide tracts of seven guanines and C terminal subdomains
  • a truncated helix-turn helix DNA binding domain
  • an intermediary octapeptide motif
    • HOMOLOGY
    interspecies homolog to murine Pax9
    Homologene
    FAMILY
  • paired family of homobox protein
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a role in the development of a variety of organs and skeletal elements
  • transcription factor that is important in tooth development
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text vertebral developement
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding (homeodomain)
    RNA
    small molecule
    protein
  • interacting with FOXG1, JARID1B
  • interaction with MSX1 ( MSX1 may serve as a modulator of the PAX9 transcription factor activity, fine-tuning BMP4 expression, and regulating its own expression in a feedback loop)
  • interacting with OSR2 (OSR2 acts downstream of PAX9 and patterns the mesenchymal odontogenic field through protein-protein interactions with MSX1 and PAX9 during early tooth development)
    • cell & other
    REGULATION
    Other regulated by SHH and GLI3 (context dependent, with major differences between the limb and somite)
    ASSOCIATED DISORDERS
    corresponding disease(s) OLD , HYD1 , DEL14QP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    aberrant expression in chondrocytes of vertebral column in Jarcho-Levin syndrome
    Susceptibility
  • to nonsyndromic cleft lip with or without cleft palate
  • to morphological variation in permanent teeth
    • Variant & Polymorphism other
  • polymorphisms increasing the risk of nonsyndromic cleft lip with or without cleft palate
  • significant associations of PAX9 SNPs with shoveling of upper first incisors
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS