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FLASH GENE
Symbol BACE2 contributors: mct - updated : 07-12-2012
HGNC name beta-site APP-cleaving enzyme 2
HGNC id 934
Location 21q22.2      Physical location : 42.539.727 - 42.648.523
Synonym name
  • memapsin 1 aspartate-like protein
  • Down syndrome region aspartic protease
  • aspartyl protease 1
  • beta-site amyloid beta A4 precursor protein-cleaving enzyme 2
  • Synonym symbol(s) ASP1, BAE2, DRAP, AEPLC, ALP56, ASP21, CDA13, CEAP1
    EC.number 3.4.23.45
    DNA
    TYPE functioning gene
    STRUCTURE 108.80 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure controlled by a TATA-less promoter
    MAPPING cloned Y linked N status provisional
    Physical map
    DSCAM 21q22.2-q22.3 Down syndrome cell adhesion molecule LOC388826 21 LOC388826 BACE2 21q22.3 beta-site APP-cleaving enzyme 2 PLAC4 21 placenta-specific 4 FAM3B 21q22.3 family with sequence similarity 3, member B MX2 21q22.3 myxovirus (influenza virus) resistance 2 (mouse) MX1 21q22.3 myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) TMPRSS2 21q22.3 transmembrane protease, serine 2 C21orf129 21q22.3 chromosome 21 open reading frame 129 ANKRD3 21q22.3 ankyrin repeat domain 3 PRDM15 21q22.3 PR domain containing 15 LOC388827 21 similar to ZNF298 C21orf25 21q22.3 chromosome 21 open reading frame 25 LOC388828 21 similar to C21orf258 ZNF295 21q22.3 zinc finger protein 295 C21orf121 21 chromosome 21 open reading frame 121 C21orf128 21q22.3 chromosome 21 open reading frame 128 FLJ36335 21q22.3 hypothetical protein FLJ36335
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2993 56.2 518 - Solans
    8 - 2824 43 396 - Solans
    unique C terminus
    8 - 2843 50.5 468 - Solans
    lacking an internal segment
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveintestinelarge intestinecolon moderately
    Endocrinepancreas     Homo sapiens
    Nervousbrain     Homo sapiens
    Reproductivefemale systemuteruscervix highly
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta, umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 20 residues signal peptide
  • two putative N-glycosylation sites
  • HOMOLOGY
    interspecies homolog to rattus Bace2 (89.69 pc)
    homolog to murine Bace2 (89.49 pc)
    intraspecies homolog to BACE1
    Homologene
    FAMILY peptidase A1 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    text type I integral membrane glycoprotein
    basic FUNCTION
  • involved in the cleavage of the precursor of amyloid beta protein principal component of senile plaques in Alzheimer disease
  • APP theta-secretase, not responsible for the pathogenesis of Alzheimer disease in Down syndrome
  • may play a role in diabetes-associated amyloidogenesis
  • important enzyme in beta-cell function
  • implicated in astrocytes beta-secretase activity
  • implicated in the control of beta cell maintenance, providing a rational strategy to inhibit this protease for the expansion of functional pancreatic beta cell mass (PMID;
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RTN3
  • RTN4
  • TMEM27 is a substrate of BACE2 (structural properties of TMEM27 that affect the susceptibility to BACE2 having implications for the efficiency with which TMEM27 and other BACE2 substrates are cleaved in normal and disease states)
  • is an APP-degrading protease
  • BACE2 cleaves the integral membrane form of PMEL within the juxtamembrane domain, releasing the PMEL luminal domain into endosomal precursors for the formation of amyloid fibrils and downstream melanosome morphogenesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in Down syndrome
    constitutional     --over  
    in patients with preclinical to late-stage AD, and also elevated in frontotemporal dementia
    Susceptibility to Alzheimer disease (AD)
    Variant & Polymorphism SNP haplotype (H5) was found to associate with AD, but haplotype (H7) showed a weaker association with protection against AD
    Candidate gene
  • particulary strong therapeutic candidate for the treatment or prevention of AD
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    therapeutic interventions that potentiate BACE2 may prevent AD pathogenesis
    ANIMAL & CELL MODELS