BUB1B Chromosome 15
BUB1 mitotic checkpoint serine/threonine kinase B
Upload your DNA to see your personal genotypes for variants in BUB1B.
What This Gene Does
This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
BUB1 mitotic checkpoint serine/threonine kinase family
Locus Type
gene with protein product
Location
15q15.1
Ensembl
ENSG00000156970
Associated Conditions (10)
Mosaic variegated aneuploidy syndrome 1
Inborn genetic diseases
See cases
Colorectal cancer
BUB1B-related disorder
Premature chromatid separation trait
Carcinoma of colon
Mosaic variegated aneuploidy syndrome
Microcephaly
Ovarian cancer
Key Variants
RS117485407
Conflicting classifications of pathogenicity
Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1
Health Risk
RS1221831901
Conflicting classifications of pathogenicity
Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1
Health Risk
RS1326535455
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
Health Risk
RS141013408
Conflicting classifications of pathogenicity
Mosaic variegated aneuploidy syndrome 1, See cases, Inborn genetic diseases
Health Risk
RS141953425
Conflicting classifications of pathogenicity
Mosaic variegated aneuploidy syndrome 1, Carcinoma of colon, Premature chromatid separation trait
Health Risk
RS1422532977
Conflicting classifications of pathogenicity
Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1
Health Risk
RS143232848
Conflicting classifications of pathogenicity
Mosaic variegated aneuploidy syndrome 1, Microcephaly, Inborn genetic diseases
Health Risk
RS1440328650
Conflicting classifications of pathogenicity
Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1
Health Risk
RS145184714
Conflicting classifications of pathogenicity
Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1
Health Risk
RS148159407
Conflicting classifications of pathogenicity
Carcinoma of colon, Premature chromatid separation trait, Mosaic variegated aneuploidy syndrome 1
Health Risk
RS150707631
Conflicting classifications of pathogenicity
Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1
Health Risk
RS1595518738
Conflicting classifications of pathogenicity
Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
Health Risk
All Variants (102)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS756459860 | Health Risk | Pathogenic/Likely pathogenic | Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |
| RS759242053 | Health Risk | Pathogenic/Likely pathogenic | Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1 |