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FLASH GENE
Symbol DFFB contributors: mct/npt - updated : 25-02-2020
HGNC name DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)
HGNC id 2773
Location 1p36.32      Physical location : 3.773.844 - 3.801.992
Synonym name
  • caspase activated deoxyribonuclease
  • caspase-activated nuclease
  • DNA fragmentation factor subunit beta
    • Synonym symbol(s) CAD, CPAN, DFF40, DFF2, DFF-40
    EC.number 3.-.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 28.16 kb     7 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3034 39 338 - 2015 26529233
    7 - 3120 - 362 - 2015 26529233
    7 - 3002 - 289 - 2015 26529233
    7 - 2883 - 274 - 2015 26529233
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth    
    Lymphoid/Immunespleen    
    Reproductivemale systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • regulatory CIDE-N domain (cell death inducing DFFA-like effector)
    • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • triggering DNA fragmentation and chromatin condensation during apoptosis
  • deoxyribose-specific and double-strand-specific enzyme, endonuclease which is primarily responsible for internucleosomal DNA cleavage during the terminal stages of apoptosis
  • exclusively specific for double-stranded DNA
  • caspase 3/DFFB promotes cell differentiation by directly modifying the DNA/nuclear microenvironment, which enhances the expression of critical regulatory genes
  • DFFB-mediated apoptosis plays a significant role in mediating sepsis induced cellular dysfunction
  • involved in apoptotic rearrangement of interchromatin granule clusters (IGCs), with the nuclear matrix and chromatin closely associated, and depend on the activity of protein phosphatases and caspases
  • its caspase-dependent specific activation mediating nuclear fragmentation and oligonucleosomal DNA degradation
  • is the most favorable candidate for chromatin degradation during apoptosis
    • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • beta subunit, heterodimerizing with DFFA
    • INTERACTION
    DNA binding (fragment)
    RNA
    small molecule
    protein
  • interacting with DNASE1L3 (providing an alternative mechanism for inducing nuclear changes when the working apoptotic cascade is unsuitable for DFFB activation)
  • possible cooperative activity between DFFB and DNAS1L3 to accomplish internucleosomal DNA fragmentation (INDF) 5)
  • in its role as an apoptotic intracellular endonuclease, DNASE1L3 cooperates with DFFB in DNA fragmentation
    • cell & other
    REGULATION
    activated by caspase 3 (CASP3)
    inhibited by DFFA (isoforms DFF45,DFF35)
    RNA, heparin and other polyanions
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    low expression levels of DFFB and the absence of DNA laddering as common molecular traits in Glioblastoma (GBM)
    Susceptibility
    Variant & Polymorphism
    Candidate gene unlikely to be a candidate neuroblastoma tumor suppressor gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS