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FLASH GENE
Symbol RABEP2 contributors: mct - updated : 26-12-2018
HGNC name rabaptin, RAB GTPase binding effector protein 2
HGNC id 24817
Location 16p11.2      Physical location : 28.915.742 - 28.936.532
Synonym name
  • Fos-related antigen
  • Rabaptin-5 beta
  • Synonym symbol(s) FRA, FLJ23282
    DNA
    TYPE functioning gene
    STRUCTURE 20.79 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2280 - 569 - 2007 17254320
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrain    
    Reproductivemale systemprostate   
    Urinarykidneytubuleconvoluted tubuleproximal tubule 
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretoryrenal tubular epithelium  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    two collagen IV C-terminal (col4c) domains
    HOMOLOGY
    Homologene
    FAMILY type IV collagen family
    CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text
  • RABEP2 localization at the centrosome is regulated by SDCCAG8
  • basic FUNCTION
  • playing a role in membrane trafficking and in homotypic early endosome fusion
  • RABEP2 is a key modulator of KDR endosomal trafficking, demonstrating the importance of RABEP2 and RAB4 for KDR signaling in endothelial cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heterodimer with RABGEF1
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RABEP2 is a novel primed substrate of GSK3A, and thus a potential biomarker for GSK3A activity
  • RABEP2, a RAB-effector protein implicated in arteriogenesis, modulates KDR trafficking
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • RABEP2 expression, including its intracellular localization, may be considered a useful marker for hyperplastic and neoplastic proliferative breast disorders
  • Therapy target
    ANIMAL & CELL MODELS