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FLASH GENE
Symbol BMF contributors: npt/mct/pgu - updated : 07-05-2012
HGNC name Bcl2 modifying factor
HGNC id 24132
Location 15q15.1      Physical location : 40.380.093 - 40.401.075
Synonym name BH3-only Bcl-2 family member
Synonym symbol(s) FLJ00065
DNA
TYPE functioning gene
STRUCTURE 20.98 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text regulated by transcriptional activation and alternative splicing (PMID: 14574334)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 4551 20.4 184 - 2004 14574334
5 - 4700 20.4 184 in many cell types 2004 14574334
  • variant 1 - bmf-I
  • induced apoptosis and reduced colony formation in contrast to Bmf-II and Bmf-III (Morales 2004)
  • mRNA was upregulated in normal and leukemic B cells (Morales 2004)
  • 3 splicing 4402 17.9 163 mainly detected in B-CLL and normal B cells 2004 14574334
  • variant 3 - bmf-II
  • splice variant, lacking the BH3 domain but retaining the DLC2 binding domain (Morales 2004)
  • 2 splicing 4304 14.02 129 mainly detected in B-CLL and normal B cells 2004 14574334
  • splice variant, lacking the BH3 domain but retaining the DLC2 binding domain (Morales 2004)
  • downregulated only in B-CLL cells by serum deprivation
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine     Homo sapiens
    Endocrinethyroid    
    Lymphoid/Immunelymph node   highly
    Respiratoryrespiratory tractlarynx  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a single BCL2 homology domain 3 (BH3)
  • a DLC2 binding domain
  • HOMOLOGY
    interspecies homolog to rattus Bmf
    homolog to murine Bmf
    Homologene
    FAMILY
  • BH3-only member of the BCL2 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    text
  • found on mitochondria during anoikis, a physiological form of apoptosis
  • basic FUNCTION
  • apoptotic activator
  • key molecule for HDAC inhibitors (FK228 and CBHA)-mediated enhancing effect on ionizing radiation-induced cell death
  • plays a critical role in apoptosis signaling and can function as a tumor suppressor
  • required for death-receptor-induced necroptosis
  • novel component of the TP53-independent tumor suppressor pathway triggered by MYC
  • can act as a sentinel for stress-impaired CAP-dependent protein translation machinery
  • sentinel considered to register damage at the cytoskeleton and to convey a death signal to B-cell lymphoma 2 (BCL2)
  • induced in human IEC (intestinal epithelial cell) by the loss of cell attachment and is likely to play an important role in the regulation of IEC survival
  • may be critical for epithelial cell homeostasis
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts intracellularly with the dynein light chain 2 (DLC2), a component of the myosin V motor complex
  • interaction of BMF with BCL2 on the mitochondrial surface neutralizes the anti-apoptotic action of BCL2
  • cell & other
    REGULATION
    Other hypoxic conditions inhibit anoikis and block expression of proapoptotic BCL2L11 and BMF in epithelial cells
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    protected lymphocytes against apoptosis induced by glucocorticoids or histone deacetylase inhibition
    tumoral     --low  
    accelerated the development of gamma irradiation-induced thymic lymphomas
    constitutional     --low  
    suppresses anoikis in primary intestinal epithelial cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • colonic crypt length in Bmf-/- mice was significantly increased as compared with WT mice
  • loss of murine Bmf causes defects in uterovaginal development, including an imperforate vagina and hydrometrocolpos