AURKB

Chr 17

aurora kinase B

Also known as: AIK2, AIM-1, AIM1, ARK-2, ARK2, AurB, IPL1, PPP1R48

NCBI Gene: 9212 ENSG00000178999 UniProt: Q96GD4 OMIM: 604970

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.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 0.73

Clinical Summary— AURKB

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

📋

ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 28 VUS of 47 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.73LOEUF

pLI 0.004

Z-score 2.40

OE 0.39 (0.22–0.73)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.74Z-score

OE missense 0.86 (0.76–0.97)

183 obs / 213.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.39 (0.22–0.73)

0≤0.351.4

Missense OE?0.86 (0.76–0.97)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 7 / 18.0Missense obs/exp: 183 / 213.4Syn Z: 0.26

This gene — mechanism propensity

0.7033th %ile

GOF

0.5955th %ile

LOF

0.3940th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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

47 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1

VUS28

Likely Benign3

Likely Pathogenic

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	1	0	1
VUS	1	27	0	28
Likely Benign	0	1	2	3
Benign	0	0	0	0
Total	1	29	2	32

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

18 pathogenic / likely-pathogenic (of 30) ClinVar copy-number / structural variants overlap AURKB — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →