BUB1

Chr 2

BUB1 mitotic checkpoint serine/threonine kinase

Also known as: BUB1A, BUB1L, MCPH30, hBUB1

NCBI Gene: 699ENSG00000169679UniProt: O43683

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly 30, primary, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)
colorectal cancer · ADLimitednot for standalone diagnostic reporting
1
Active trials
124
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.60
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.60LOEUF
pLI 0.000
Z-score 3.98
OE 0.43 (0.31–0.60)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.85Z-score
OE missense 0.90 (0.83–0.97)
500 obs / 556.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.31–0.60)
0≤0.351.4
Missense OE?0.90 (0.83–0.97)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 24 / 56.2Missense obs/exp: 500 / 556.3Syn Z: 0.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BUB1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients