BUB1B
Chr 15ADARBUB1 mitotic checkpoint serine/threonine kinase B
Also known as: BUB1beta, BUBR1, Bub1A, MAD3L, MVA1, SSK1, hBUBR1
The protein is an essential mitotic checkpoint kinase that inhibits the anaphase-promoting complex to ensure proper chromosome segregation during cell division. Mutations cause mosaic variegated aneuploidy syndrome 1, characterized by growth retardation, intellectual disability, microcephaly, and increased cancer risk, with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene is highly constrained against loss-of-function variants, reflecting its essential role in cell cycle regulation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BUB1B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools