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FLASH GENE
Symbol AP3B2 contributors: mct/npt - updated : 26-01-2017
HGNC name adaptor-related protein complex 3, beta 2 subunit
HGNC id 567
Corresponding disease
EIEE48 epileptic encephalopathy, early infantile, 48
Location 15q25.2      Physical location : 83.328.033 - 83.378.635
Synonym name
  • neuronal adaptin-like protein, beta-subunit
  • beta3B-adaptin
  • clathrin assembly protein complex 3 beta-2 large chain
  • neuron-specific vesicle coat protein beta-NAP
  • Synonym symbol(s) NAPTB, DKFZp686D17136, beta-NAP
    DNA
    TYPE functioning gene
    STRUCTURE 50.83 kb     26 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 3771 119 1082 - 2007 17453999
    - - 1171 - 145 relatively high in brain and testis 2007 17453999
    27 - 3828 - 1101 - 2007 17453999
    25 - 3675 - 1050 - 2007 17453999
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum  
     braindiencephalonhypothalamus  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated PhosphoP
    mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to murine Ap3B2
    homolog to Drosophila rb
    homolog to C.elegans R11A5.1b
    Homologene
    FAMILY
  • adaptor complexes large subunits family
  • CATEGORY adaptor , antigen , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • secretory vesicle membrane
  • Golgi region and peripheral structures
  • basic FUNCTION
  • acting in protein transport between neuron cell body and axon
  • facilitating the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text
  • vesicle transport (post Golgi)
  • secretory vesicle
  • PATHWAY
    metabolism
    signaling
    a component
  • component of the AP-3 complex composed of two large chains (delta and beta 3), a medium chain (MU3) and a small chain (sigma 3)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EPB41L2 binds to the AP3B2 protein, which is involved in neuronal membrane trafficking, and promotes neurite extension in an AP3B2-dependent manner
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE48
    Susceptibility
  • to severe chronic periodontitis
  • Variant & Polymorphism SNP rs11631963-rs11637433 are associated to severe chronic periodontitis
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS