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FLASH GENE
Symbol CD248 contributors: mct/npt - updated : 22-04-2010
HGNC name CD248 molecule, endosialin
HGNC id 18219
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a signal peptide
  • one SUSHI/scr/ccp domain
  • calcium binding EGF-like domain
  • five globular extracellular domains including the C type lectin domain
  • three EGF repeats
  • one mucin-like region
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • cell surface glycoprotein playing an important role in tumor progression
  • may have complementary functions with thrombomodulin in tumor progression
  • role in controlling the interaction among tumor cells, endothelia, and stromal matrix (2007)
  • highly O-glycosylated transmembrane glycoprotein, which is specifically expressed by tumor vessel-associated pericytes and stromal fibroblasts of a wide range of human tumors (Becker 2008)
  • involved in the earlier stages of tumor angiogenesis (Bagley 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • LGALS3BP specific interaction partner (Becker 2008)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colorectal cancer
    tumoral     --over  
    in highly invasive glioblastoma multiforme, anaplastic astrocytomas, and metastatic carcinomas
    constitutional        
    silencing in fibroblasts strongly inhibited migration and proliferation (Christian 2008)
    tumoral     --over  
    observed in many cancers of various tissue origin, including colon, breast, pancreatic, and lung (Tomkowicz 2007)
    tumoral        
    led to an increase in small immature blood vessels and decreased numbers of medium and large tumor vessels (Tomkowicz 2007)
    tumoral     --over  
    in primary and metastatic human brain tumors, where it localized primarily to the tumor vasculature and a subset of tumor stromal cells (Carson-Walter 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • marker of tumor-associated myofibroblasts and tumor vessel-associated mural cells (Christian 2008)
    • Marker
    Therapy target
  • cellular localization of TEM1/endosialin and its expression profile in primary and metastatic brain tumors support efforts to therapeutically target this protein, potentially via antibody mediated drug delivery strategies (Carson-Walter 2009)
    • ANIMAL & CELL MODELS