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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
DNA
TYPE functioning gene
STRUCTURE 62.00 kb     21 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 3289 74 664 - -
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveintestinelarge intestinecolon highly
 mouthtongue  moderately
Reproductivefemale systemuterus  moderately
 female systembreastmammary gland moderately
 male systemtestis  highly
Respiratoryrespiratory tractlarynx  moderately
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cell lineage
cell lines
fluid/secretion blood
at STAGE
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