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FLASH GENE
Symbol APBB2 contributors: mct - updated : 31-10-2012
HGNC name amyloid beta (A4) precursor protein-binding, family B, member 2 (Fe65-like)
HGNC id 582
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an atypical SRC3 (WW, phosphoserine- or phosphothreonine binding)domain
  • two phosphotyrosine domains (PID) interacting with the YENPTY motif of APP
  • C-terminal apoptosis inhibitory domain (AID)regulating both apoptotic and caspase-independent programmed cell death mediated by tumor necrosis factor, and PID domain alone exhibiting a canonical PID/PTB fold, whereas the complex structure reveals a novel mode of peptide binding
  • HOMOLOGY
    interspecies homolog to murine Fe65 like gene
    homolog to murine Apbb2
    Homologene
    FAMILY Fe65 family
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • modulating the internalization of beta-amyeloid precursor protein
  • increases APP C-terminal domain production, but it does not mediate the APP-dependent transcriptional activation observed with APBB1
  • regulates both apoptotic and caspase-independent programmed cell death mediated by tumor necrosis factor through its apoptosis inhibitory domain
  • APBB1, APBB2, APBB3 are involved in basement membrane assembly
  • APBB1, APBB2, APBB3 contribute to physiological APP processing and accumulation of APP metabolic products resulting from NMDAR activation
  • APBB1, APBB2, APBB3 contribute to physiological APP processing and accumulation of APP metabolic products resulting from NMDAR activation
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • beta-amyeloid precursor APLP2
  • interacts with the cytoplasmic domain of Alzheimer amyloid precursor protein (APP) through its C-terminal phosphotyrosine interaction/phosphotyrosine binding (PID/PTB) domain
  • facilitate neuronal APP secretion without affecting APP fast axonal transport to pre-synaptic terminals
  • APBB1, APBB2, APBB3 facilitate an NMDAR-dependent non-amyloidogenic APP processing pathway
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    deletion of two members of the FE65 family of adaptor proteins, APBB1, APBB2, results in cerebral cortical dysplasia
    Susceptibility to late onset Alzheimer disease
    Variant & Polymorphism SNP associated to to late onset Alzheimer disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS