BUB1 Chromosome 2
BUB1 mitotic checkpoint serine/threonine kinase
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What This Gene Does
This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
BUB1 mitotic checkpoint serine/threonine kinase family
Locus Type
gene with protein product
Location
2q13
Ensembl
ENSG00000169679
Associated Conditions (7)
BUB1-related disorder
Colorectal cancer with chromosomal instability
somatic
Microcephaly 30
primary
autosomal recessive
Carcinoma of colon
Key Variants
RS140025456
Conflicting classifications of pathogenicity
Health Risk
RS145104409
Conflicting classifications of pathogenicity
Health Risk
RS146767216
Conflicting classifications of pathogenicity
Health Risk
RS148734139
Conflicting classifications of pathogenicity
BUB1-related disorder, BUB1-related disorder
Health Risk
RS150818164
Conflicting classifications of pathogenicity
Health Risk
RS199818479
Conflicting classifications of pathogenicity
Health Risk
RS200184764
Conflicting classifications of pathogenicity
Health Risk
RS200486519
Conflicting classifications of pathogenicity
Health Risk
RS200797921
Conflicting classifications of pathogenicity
Health Risk
RS2468017329
Conflicting classifications of pathogenicity
Health Risk
RS370046867
Conflicting classifications of pathogenicity
Health Risk
RS751310382
Conflicting classifications of pathogenicity
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140025456 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145104409 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146767216 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148734139 | Health Risk | Conflicting classifications of pathogenicity | BUB1-related disorder, BUB1-related disorder |
| RS150818164 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199818479 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200184764 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200486519 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200797921 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2468017329 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370046867 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751310382 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757847164 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769294354 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772759859 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774517902 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781298295 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121909055 | Health Risk | Pathogenic | Colorectal cancer with chromosomal instability, somatic, Colorectal cancer with chromosomal instability |
| RS1479870307 | Health Risk | Pathogenic | Microcephaly 30, primary, autosomal recessive |
| RS2467990507 | Health Risk | Pathogenic | Microcephaly 30, primary, autosomal recessive |
| RS587776642 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS794729661 | Health Risk | Pathogenic | Colorectal cancer with chromosomal instability, somatic, Colorectal cancer with chromosomal instability |