AURKB
Chr 17aurora kinase B
Also known as: AIK2, AIM-1, AIM1, ARK-2, ARK2, AurB, IPL1, PPP1R48
This gene encodes Aurora kinase B, a serine/threonine kinase that is an essential component of the chromosomal passenger complex, which regulates chromosome alignment, segregation, and cytokinesis during mitosis. Pathogenic variants cause autosomal recessive primary microcephaly with growth restriction and intellectual disability, typically presenting in infancy with severe microcephaly and developmental delays. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected patients.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
76 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 18 | 0 | 18 |
Likely Pathogenic | 0 | 1 | 0 | 0 | 1 |
VUS | 1 | 27 | 11 | 0 | 39 |
Likely Benign | 0 | 1 | 0 | 2 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 29 | 29 | 2 | 61 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
AURKB · 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