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FLASH GENE
Symbol NRBF2 contributors: mct - updated : 21-08-2015
HGNC name nuclear receptor binding factor 2
HGNC id 19692
Location 10q21.3      Physical location : 64.893.006 - 64.914.785
Synonym name
  • comodulator of PPAR and RXR 1
  • comodulator of PPAR and RXR 2
  • Synonym symbol(s) DKFZp564C1664, FLJ30395, COPR1, COPR2, COPR , NRBF-2
    DNA
    TYPE functioning gene
    STRUCTURE 21.78 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D10S549 - D10S207 - CDC2 - NRBF2 - D10S561 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1916 32.4 287 - -
    3 - 1830 - 277 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Endocrinepancreas    
    Nervousbrainlimbic systemhippocampus   Mus musculusFetal
     brainlimbic systemhippocampus   Mus musculusAdult
     brainhindbraincerebellum   Mus musculusAdult
    Reproductivemale systemprostate   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Mus musculus
    NervousPurkinje cell Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a microtubule interaction and trafficking (MIT) domain, for binding ATG14 directly and enhancing ATG14-linked PIK3C3 kinase activity and autophagy induction
  • HOMOLOGY
    interspecies ortholog to murine Nrbf2
    homolog to Drosophila CG13667
    homolog to C.elegans Y113G7A.8
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    text
  • mainly cytoplasmic location
  • basic FUNCTION
  • is thought to have a role in cell survival in neural progenitor cells and to suppress autophagy, a process that needs to be tightly controlled in breast cells during normal development, tissue differentiation, and response to stress
  • plays a critical role in the induction of starvation-induced autophagy as a specific member of PIK3C3 Complex I
  • modulates autophagy via regulation of PI3K-III and prevents ER stress-mediated cytotoxicity and liver injury
  • is potentially involved in autophagosome biogenesis
  • likely expression of NRFB2 might play a role in transformation or progression of transformed breast cells
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component in the specific PI3K-III complex and a modulator of PI3K-III activity
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction partner of the peroxisome proliferator-activated receptor alpha (PPARA), and exhibits a gene activation function in mammalian cells
  • NRBF2-BECN1 interaction required the N terminus of NRBF2
  • NRBF2 may interact with the ATG14-containing BECN1-PIK3C3 protein complex to modulate protein-protein interactions within the complex, leading to suppression of PIK3C3 activity, autophagosome biogenesis, and autophagic flux
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to mammographic density, and breast cancer
    Variant & Polymorphism SNP
  • rs10995190 and rs10509168 are both associated with mammographic density, and breast cancer
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Nrbf2-deficient mice develop focal liver necrosis and ductular reaction, accompanied by impaired Atg14L-linked Vps34 activity and autophagy, although the mice show no increased mortality