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FLASH GENE
Symbol VWA2 contributors: mct - updated : 23-02-2016
HGNC name von Willebrand factor A domain containing 2
HGNC id 24709
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunethymus   predominantly
Respiratorylung     Homo sapiens
Skin/Tegumentskin     Homo sapiens
Urinarykidney     Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal VWA domain connected to two additional, tandem VWA domains by a cysteine-rich sequence and an epidermal growth factor (EGF)-like domain
  • signal peptide
  • four EGF-like domains
  • two VWA domains
  • a novel calcium-binding site regulating its cleavage by ADAMTS13
  • VWA-like domains related to those in matrilins and collagens (AMACO)
  • C terminus made up of another EGF-like domain
  • isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine Amaco
    Homologene
    FAMILY von Willebrand factor A-like domain protein superfamily
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text
  • extracellular matrix protein associated with certain basement membranes in skin, lung, and kidney
  • basic FUNCTION
  • acting as major component of the extracellular matrix of cartilage
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • represents a member of the Fraser complex
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Ca2+
    protein
  • FRAS1 and VWA2 interact directly via their chondroitin sulfate proteoglycan (CSPG) and P2 domains
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    generally absent in normal colon and other normal body tissues, but induced in Stage II, III, and IV colon cancers, as well as in colon adenomas and colon cancer cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS