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FLASH GENE
Symbol EXT2 contributors: npt/ - updated : 21-08-2007
HGNC name exostosin 2
HGNC id 3513
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a signal peptide
  • a large N acetylglucosaminyl and glucoronyl transferase activities
  • conjugated GlycoP
    mono polymer heteromer , oligo
    HOMOLOGY
    interspecies homolog to murine Cxt2
    intraspecies homolog to EXT1,highly
    Homologene
    FAMILY
  • glycosyltransferase 47 family
  • CATEGORY enzyme , regulatory , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,cytoplasm,organelle,Golgi
    text accumulating in the Golgi network
    basic FUNCTION
  • glycosyltransferase having N-acetylglucosaminyl and glucoronyl transferase activity involved in the chain elongation in heparan sulfate/heparin biosynthesis
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS ossification
    text participating to the development of cytoskeleton of chondrocytes
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
  • homo/hetero-oligomeric complex with EXT1
  • constituent of a stable H5 (heparan sulfate) polymerase complex
  • with EXT1 are believed to form a Golgi-located hetero-oligomeric complex that catalyzes the chain elongation step in heparan sulfate biosynthesis (Busse 2007)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GALNT5 and TRAP1 in normal type, not in mutated form
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EXT2 , DEL11PP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in osteochondroma
    tumoral       loss of function
    in bone tumor
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS