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FLASH GENE
Symbol REPS2 contributors: mct - updated : 22-10-2013
HGNC name RALBP1 associated Eps domain containing 2
HGNC id 9963
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two potential initiator methionines in its N terminus
  • a central EPS15 -like domain,
  • a coiled-coil domain that engage in several protein-protein interactions to coordinate the internalization of various receptors with molecular signaling
  • two proline-rich regions, and the central proline rich region plays a regulatory role in epidermal growth factor receptor endocytosis by binding to 14-3-3 and SH3 domain-containing proteins
  • a putative coiled-coil structure in its C terminus
    • HOMOLOGY
    interspecies ortholog to murine Reps2
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • complexing with RALBP1 and this complex may provide a link between tyrosine kinase, Src homology 3 (SH3)-containing protein, and RAL
  • implicated in growth factor receptor-mediated endocytosis and signaling
  • function as a molecular scaffold recruiting proteins involved in vesicular traffic and linking them to the actin cytoskeleton remodeling machinery
  • important player in receptor-mediated endocytosis
  • plays important roles in inhibiting cell proliferation, migration and in inducing apoptosis of cancer cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • interacting with RALBP1 and DDEF1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in androgen-independent prostate cancer
    tumoral     --low  
    in esophageal squamous cell carcinoma (ESCC)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • downregulation of REPS2 represent a novel prognostic marker in esophageal squamous cell carcinoma (ESCC)
  • is a potential biomarker for breast and prostate cancer
    • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveoesophagus
    potential therapeutic target for ESCC patients
    ANIMAL & CELL MODELS