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FLASH GENE
Symbol BACE2 contributors: mct - updated : 07-12-2016
HGNC name beta-site APP-cleaving enzyme 2
HGNC id 934
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
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
  • RCAN1 inhibits BACE2 turnover by attenuating proteasome-mediated BACE2 degradation
  • 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