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FLASH GENE
Symbol APPL2 contributors: mct - updated : 17-05-2017
HGNC name adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
HGNC id 18242
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal BAR domain
  • a central PH domain
  • a C-terminal PTB domain
  • a PID domain
  • a potential nuclear localization signal
    • HOMOLOGY
    interspecies ortholog to murine Dip3b
    Homologene
    FAMILY
  • pleckstrin-like family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,nucleus
    text
  • colocalized with NuRD complex
  • early endosomal membrane-bound and nuclear
  • translocated into the nucleus upon release from endosomal membranes following internalization of EGF
    • basic FUNCTION
  • required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment
  • linking Rab5 to nuclear signal transduction
  • APPL1 and APPL2 appear to play important roles in cargo trafficking and signal transduction
    • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAB5A/Rab5 through an N-terminal domain
  • subunits of the NuRD/MeCP1 complex
  • APPL1 and APPL2 are associated with TGFBR1 in a TRAF6-dependent manner
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   translocation    
    chromosomal aberration involving DIP13B in DEL22Q13 syndrome, translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2
    tumoral     --over  
    in aggressive prostate cancer tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • APPL, APPL2-TGFBR1 complex may serve as a prognostic marker, in prostate cancer
    • Therapy target
    ANIMAL & CELL MODELS