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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
Location 4p14      Physical location : 40.812.044 - 41.216.635
Synonym name
  • Fe65-like 1
  • protein Fe65-like
  • Synonym symbol(s) FE65L, FE65L1, Zfra
    DNA
    TYPE functioning gene
    STRUCTURE 404.59 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    FLJ13197 4p14 hypothetical protein FLJ13197 KLF3 4p14 Kruppel-like factor 3 (basic) TLR10 4p14 toll-like receptor 10 TLR1 4p14 toll-like receptor 1 TLR6 4p16.1 toll-like receptor 6 LOC92689 4p14 hypothetical protein BC001096 FLJ23235 4p14 hypothetical protein FLJ23235 KLHL5 4p15.1-p13 kelch-like 5 (Drosophila) PWDMP 4p14 WD repeat membrane protein PWDMP RFC1 4p14-p13 replication factor C (activator 1) 1, 145kDa LOC152831 4p14 klotho beta like RPL9 4p13 ribosomal protein L9 LIAS 4p14 lipoic acid synthetase LOC391645 4 similar to WD repeat domain 5; Bmp2-induced gene UGDH 4p15.1 UDP-glucose dehydrogenase LOC201895 4p14 hypothetical protein LOC201895 HIP2 4p14 huntingtin interacting protein 2 LOC391646 4 similar to chromosome 6 open reading frame 46; Em:AF134726.1 KIAA0648 4p15.1-p11 similar to chromosome 6 open reading frame 46; Em:AF134726.1 PABPCP1 4p14 poly(A) binding protein, cytoplasmic, pseudogene 1 LOC391647 4 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC344967 4p14 similar to cytosolic acyl coenzyme A thioester hydrolase N4BP2 4p14 Nedd4 binding protein 2 ARHH 4p13 ras homolog gene family, member H LOC339997 4p14 hypothetical LOC339997 CHRNA9 4p15.1-p14 cholinergic receptor, nicotinic, alpha polypeptide 9 FLJ20273 4p13-p12 RNA-binding protein FLJ14001 4p14 hypothetical protein FLJ14001 APBB2 4p15.1-p14 amyloid beta (A4) precursor protein-binding, family B, member 2 (Fe65-like) UCHL1 4p15.1-p14 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) KIAA1102 4p13-p11 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) PHOX2B 4p12 paired-like homeobox 2b FLJ10525 4p14 hypothetical protein FLJ10525 LOC285429 4p14 hypothetical protein LOC285429 SLC30A9 4p13-p12 solute carrier family 30 (zinc transporter), member 9 ATP1BL1 4p15-q13 ATPase, Na+/K+ transporting, beta polypeptide-like 1 LOC389206 4 hypothetical gene supported by AK125953 ATP8A1 4p14-p12 ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1 LOC389207 4 similar to ENSANGP00000012385
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 8935 - 736 - 2005 16083851
    18 - 9001 - 758 - 2005 16083851
    18 - 9004 - 759 - 2005 16083851
    7 - 7012 - 210 - 2005 16083851
    8 - 7018 - 210 - 2005 16083851
    7 - 7016 - 210 - 2005 16083851
    8 - 7022 - 210 - 2005 16083851
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Endocrinethyroid   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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