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FLASH GENE
Symbol APBA2 contributors: mct - updated : 27-02-2008
HGNC name amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)
HGNC id 579
Location 15q11-q12      Physical location : 29.213.839 - 29.410.514
Synonym name
  • Munc-18.1 interacting protein 2
  • X11-like protein
  • adapter protein X11beta
  • phosphotyrosine-binding/-interacting domain (PTB)-bearing protein
  • Synonym symbol(s) D15S1518E, X11L, MINT2, LIN-10, APB2, D15S1518E, MGC99508
    DNA
    TYPE functioning gene
    STRUCTURE 196.00 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    GABRA5 15q11.2-q12 gamma-aminobutyric acid (GABA) A receptor, alpha 5 LOC390550 15 LOC390550 GABRG3 15q11.2-q12 gamma-aminobutyric acid (GABA) A receptor, gamma 3 OCA2 15q11.2-q12 oculocutaneous albinism II (pink-eye dilution homolog, mouse) LOC388091 15 LOC388091 HERC2 15q13 hect domain and RLD 2 RPL41P2 15q11-q13 ribosomal protein L41, pseudogene 2 LOC390551 15 similar to hect domain and RLD 2 LOC390552 15 similar to hypothetical protein FLJ36144 LOC388092 15 similar to hypothetical protein LOC342156 15q12 similar to ATP-binding cassette, sub-family B, member 10, mitochondrial precursor (ATP-binding cassette transporter 10) (ABC transporter 10 protein) (Mitochondrial ATP-binding cassette 2) (M-ABC2) LOC388093 15 similar to hypothetical protein MGC5244 LOC390553 15 hypothetical gene supported by NM_012089 LOC388094 15 similar to hypothetical protein LOC390554 15 similar to hypothetical protein FLJ36144 LOC388095 15 hypothetical gene supported by NM_004667 LOC342179 15q12 similar to KIAA0855 protein LOC390555 15 similar to Mothers against decapentaplegic homolog interacting protein (Madh-interacting protein) (Smad anchor for receptor activation) (Receptor activation anchor) (hSARA) (Novel serine protease) (NSP) LOC388096 15 LOC388096 LOC219392 15q12 similar to HP95 APBA2 15q14 amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like) NDNL2 15q11-q13 necdin-like 2 LOC390556 15 similar to tubulin, beta 5 LOC283697 15q13.1 hypothetical protein LOC283697 TJP1 15q13 tight junction protein 1 (zona occludens 1) LOC390557 15 similar to chromosome condensation protein G LOC283698 15q13.1 similar to synaptogyrin 2; cellugyrin LOC283717 15q13.1 similar to hypothetical protein FLJ35785 LOC390558 15 similar to Dynamin-1 (D100) (Dynamin, brain) (B-dynamin) LOC388097 15 similar to hyperpolarization activated cyclic nucleotide-gated potassium channel 2; brain cyclic nucleotide gated channel 2 CHRFAM7A 15q13-q14 CHRNA7 (cholinergic receptor, nicotinic, alpha polypeptide 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion LOC390559 15 similar to Dynamin-1 (D100) (Dynamin, brain) (B-dynamin) LOC388098 15 similar to hypothetical protein FLJ35785 LOC388099 15 similar to M-phase phosphoprotein 10 LOC342167 15q13.1 similar to hypothetical protein FLJ35785 LOC390560 15 similar to Dynamin-1 (D100) (Dynamin, brain) (B-dynamin) LOC388100 15 hypothetical gene supported by AF029838; NM_139320 LOC388101 15 hypothetical gene supported by NM_173613 LOC388102 15 hypothetical gene supported by NM_014783 LOC390561 15 similar to hypothetical protein FLJ35785 LOC388103 15 hypothetical gene supported by NM_004667 LOC388104 15 similar to chromosome 1 open reading frame 37 KIAA1018 15q12 similar to chromosome 1 open reading frame 37 FLJ20313 15q13.1 hypothetical protein FLJ20313 TRPM1 15q13-q14 transient receptor potential cation channel, subfamily M, member 1 LOC283710 15q13.1 hypothetical LOC283710
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 3627 - 749 - Xie (2005)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen    
    Nervousbrain    
     nerve    
    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
  • N termnial domain binding Munc18.1
  • a phosphotyrosine domain (PID) interacting with the NPXY motif of APP
  • two PDZ domains at the C terminus
  • HOMOLOGY
    interspecies homolog to murine Apba2
    intraspecies homolog to APBA1 ( highly homologous in the C-terminal region )
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • putative function in synaptic exocytosis
  • may be important in the physiology of APP family proteins as well as in the regulation of Abeta production
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein can bind to the conserved YENPTY motif in the APP C terminus
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to schizophrenia
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS