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FLASH GENE
Symbol BUB1B contributors: mct/pgu - updated : 28-02-2016
HGNC name budding uninhibited by benzimidazoles 1 homolog beta (yeast)
HGNC id 1149
ASSOCIATED DISORDERS
corresponding disease(s) MVA1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation      
in colorectal, intestinal cancers and in glioblastoma, rarely in lung carcinoma
tumoral     --low  
in colorectal, intestinal cancers and in glioblastoma, rarely in lung carcinomain colon carcinoma with lymph node metastasis
constitutional germinal mutation      
cause premature chromatid separation (mosaic variegated aneuploidy) (MVA)syndrome, which is characterized by constitutional aneuploidy and a high risk of childhood cancer
tumoral       loss of function
may be involved in the initiation stage of tumorigenesis
constitutional       loss of function
correlated with enhanced activation of MEK and ERKs after disruption of microtubule dynamics
tumoral     --over  
in breast carcinoma (
tumoral     --over  
associated with poor survival in early stage breast cancer patients
tumoral     --over  
in prostate cancer
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
  • may serve as a clinical prognostic factor for prostate cancer
  • Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveprostate
    druggable target for prostate cancer
    ANIMAL & CELL MODELS
  • BubR1+/- mouse embryonic fibroblasts are defective in spindle checkpoint activation, contain a significantly reduced amount of securin and Cdc20, and exhibit a greater level of micronuclei than wild-type cells