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FLASH GENE
Symbol EXTL2 contributors: mct - updated : 28-02-2014
HGNC name exostoses (multiple)-like 2
HGNC id 3516
Location 1p21.2      Physical location : 101.337.940 - 101.360.418
Synonym name
  • exostosin-like 2
  • EXT-related gene 2
  • alpha-1,4-N-acteylhexosaminyltransferase
  • glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
  • processed exostosin-like 2
    • Synonym symbol(s) NAGALTA, EXTR2
    EC.number 2.4.1.223
    DNA
    TYPE functioning gene
    STRUCTURE 22.48 kb     5 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    text structure nnnnnn,
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2869 37.3 330 - -
    5 - 2905 37.3 330 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • alpha 1.4-N acetylglucosaminyltransferase 1 and alpha GLCNac transferase activity
    • HOMOLOGY
    intraspecies paralog to EXTL1,EXTL3
    Homologene
    FAMILY
  • glycosyltransferase 47 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • alpha 1,4-N-acetylglusaminyltransferase
  • transferring N-acetylgalactosamine to the common glycosaminoglycan protein linkage region most likely critical for the initiation of thesynthesis of heparin/heparan sulfate, upward EXT1 and EXT2
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    biosynthesis of heparan sulfates
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolismmucopolysaccharide 
    gene silencing of EXTL2 and EXTL3 are a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses
    ANIMAL & CELL MODELS