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FLASH GENE
Symbol PAX9 contributors: mct/npt/pgu - updated : 27-06-2018
HGNC name paired box 9
HGNC id 8623
Corresponding disease
DEL14QP chromosome 14q proximal deletion
HYD1 hypodontia 1
OLD oligodontia
Location 14q13.3      Physical location : 37.126.772 - 37.147.009
Synonym name paired box gene 9
Synonym symbol(s) STHAG3
DNA
TYPE functioning gene
STRUCTURE 20.23 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 3122 - 341 - 1997 9021154
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
digestiveesophagus    
Digestivemouthtongue   
Reproductivefemale systemovary   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
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