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FLASH GENE
Symbol ENPP2 contributors: mct/npt - updated : 16-04-2008
HGNC name ectonucleotide pyrophosphatase/phosphodiesterase 2 (autotaxin)
HGNC id 3357
Location 8q24.13      Physical location : 120.569.318 - 120.651.106
Synonym name
  • autotaxin
  • tumor cell motility stimulating factor
  • plasma lysophospholipase D
  • Synonym symbol(s) ATX, PDH1A, PNP2, PDNP2, ATX-X, FLJ26803, LysoPLD, NPP2, PD-IALPHA
    EC.number 3.1.4.1, 3.6.1.9, 3.1.4.39
    DNA
    TYPE functioning gene
    STRUCTURE 81.00 kb     27 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map see COLEC10
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 3276 - 914 lowest expression levels both in the central nervous system and peripheral tissues among the three isoforms Narita, Kawagoe, Giganti (2008)
  • 156-bp insert coding for 52 amino acids in the central domain
  • 25 splicing 3120 99 863 high expression were detected in peripheral tissues, whereas lower expression levels were observed in the central nervous system, particularly expressed in adipocytes and in retina Narita, Kawagoe, Giganti (2008)
    - - - - 889 highly detected in total brain, and also particularly expressed in adipocytes and in retina Giganti (2008)
  • lacks the same 52-amino acid insertion found in melanoma autotaxin but contains an additional 25 residues in the C-terminal third of the protein
  • EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear   highly
    Nervousbrain   specific
     nerve   highly
    Respiratorylung    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a short N-terminal intracellular domain involved in the targeting to the plasma membrane
  • a single transmembrane domain
  • a large extracellular domain encompassing two consecutive somatomedin-B-like domains
  • a catalytic domain
  • a poorly characterized C-terminal domain
  • HOMOLOGY
    Homologene
    FAMILY
  • nucleotide pyrophosphatase/phosphodiesterase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text type II transmembrane glycoprotein
    basic FUNCTION
  • phosphodiesterase I, brain type/nucleotide pyrophosphatase activity
  • type II ectonucleotide pyrophosphate phosphodiesterase enzymehaving a lysophospholipase D activity
  • augments invasive and metastatic potential of tumor cells
  • playing a critical role in vascular development
  • having a lysophospholipase D activity
  • plays a significant role in initiating and sustaining tumor metastasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    in clear cell renal carcinoma with good outcome
    tumoral     --over  
    in glioblastoma multiforme
    constitutional     --over  
    in frontal cortex of Alzheimer-type dementia patients
    tumoral     --over  
    in undifferentiated anaplastic thyroid carcinoma cell lines (UTC) and tumor tissues as compared to follicular thyroid carcinoma (FTC) cell lines
    tumoral     --over  
    with AGK, were frequently expressed in prostate cancer cells and precancerous high-grade intra-epithelial neoplasia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target a potential target of treatments for Alzheimer disease
    ANIMAL & CELL MODELS