TUBB2A
Chr 6ADtubulin beta 2A class IIa
Also known as: CDCBM5, TUBB, TUBB2
This gene encodes a beta-tubulin protein that forms heterodimers with alpha-tubulin to create microtubules, which are essential cytoskeletal structures that facilitate mitosis and intracellular transport. Mutations cause complex cortical dysplasia with other brain malformations-5, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI 0.93, LOEUF 0.36), reflecting its critical role in normal brain development.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Extremely missense-constrained (top ~0.01%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TUBB2A · 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