Symbol
| BUB1B
| contributors: mct/pgu - updated : 28-02-2016
|
HGNC name
| budding uninhibited by benzimidazoles 1 homolog beta (yeast)
|
HGNC id
| 1149
|
corresponding disease(s)
|
MVA1
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
| somatic mutation
|  
|  
|  
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in colorectal, intestinal cancers and in glioblastoma, rarely in lung carcinoma | tumoral
|  
|  
| --low
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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
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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 | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
| may serve as a clinical prognostic factor for prostate cancer | Therapy target
|
System | Type | Disorder | Pubmed |
cancer | reproductive | prostate | |
druggable target for prostate cancer |
| | |
| 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 |