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FLASH GENE
Symbol EXT2 contributors: npt/ - updated : 21-08-2007
HGNC name exostosin 2
HGNC id 3513
Corresponding disease
DEL11PP Potocki-Shaffer syndrome
EXT2 exostoses, multiple, 2
Location 11p11.2      Physical location : 44.117.098 - 44.266.979
Synonym name
  • exostoses (multiple) 2
  • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
  • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
  • multiple exostoses protein 2
    • Synonym symbol(s) SOTV
    EC.number 2.4.1.224, 2.4.1.225
    DNA
    TYPE functioning gene
    STRUCTURE 149.88 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure including exons 1a, ab
    MAPPING cloned Y linked Y status confirmed
    Physical map
    LOC387761 11 LOC387761 LOC120448 11p11.2 similar to heterogeneous nuclear ribonucleoprotein K API5 11p12-q12 apoptosis inhibitor 5 FLJ10890 LOC120449 11p11.2 similar to CTBP2 protein LOC143970 11p11.2 hypothetical LOC143970 LOC387762 11 LOC387762 HSD17B12 11p11.2 hydroxysteroid (17-beta) dehydrogenase 12 DEPC-1 11p11.2 prostate cancer antigen-1 LOC387763 11 hypothetical gene supported by BC052560 LOC390110 11 similar to 1-aminocyclopropane-1-carboxylate synthase PHACS 11p11 1-aminocyclopropane-1-carboxylate synthase EXT2 11p12-p11.2 exostoses (multiple) 2 ALX4 11p11.2 aristaless-like homeobox 4 LOC390111 11 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) KAI1 11p11.2-p11.13 kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4)) LOC387764 11 LOC387764 LOC90139 11p11.2 tetraspanin similiar to uroplakin 1 TP53I11 11pter-p15.5 tumor protein p53 inducible protein 11 PRDM11 11p11 PR domain containing 11 LOC219638 11p11.2 similar to KIAA0543 protein SYT13 11p12-p11 synaptotagmin XIII CHST1 11p11.2-p11.1 carbohydrate (keratan sulfate GAL-6) sulfotransferase 1 DKFZp779M0652 11p11.2 hypothetical protein DKFZp779M0652 SLC35C1 11p11.2 solute carrier family 35, member C1 CRY2 11p12-q21.1 cryptochrome 2 (photolyase-like) MAPK8IP1 11p12-p11.2 mitogen-activated protein kinase 8 interacting protein 1 LOC143678 11p11.2 similar to RIKEN cDNA 1700021K07 PEX16 11p11.11 peroxisomal biogenesis factor 16 GYLTL1B 11p11.2 glycosyltransferase-like 1B BHC80 11p11.2 glycosyltransferase-like 1B CREB3L1 11p11.2 cAMP responsive element binding protein 3-like 1 DGKZ 11p11.2 diacylglycerol kinase, zeta 104kDa
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 3469 82.3 718 - Ewing (2007)
    - splicing 3651 82.3 718 - Ewing (2007)
    - - 3678 - 728 - Ewing (2007)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Endocrineadrenal gland   highly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text limb
    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