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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
Location Xp22.22      Physical location : 16.964.813 - 17.171.403
Synonym name
  • partner of Ral-binding protein 1
  • RalBP1-interacting protein 2
  • partner of RalBP1
    • Synonym symbol(s) POB1
    DNA
    TYPE functioning gene
    STRUCTURE 206.59 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 7961 - 659 - 2011 21907823
    18 - 7964 - 660 - 2011 21907823
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum  
    Reproductivemale systemtestis   
    Respiratorylung    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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