TUBB2A

Chr 6

tubulin beta 2A class IIa

Also known as: CDCBM5, TUBB, TUBB2

NCBI Gene: 7280ENSG00000137267UniProt: Q13885

Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCortical dysplasia, complex, with other brain malformations 5

Clinical highlights

Gene-disease validity (ClinGen)
tubulinopathy · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
31
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.36
LOEUF
LOF
Mechanism· predicted
📖
GeneReview available — TUBB2A
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.36LOEUF
pLI 0.935
Z-score 3.10
OE 0.08 (0.03–0.36)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
5.26Z-score
OE missense 0.11 (0.08–0.15)
31 obs / 277.9 exp
Constrained

Extremely missense-constrained (top ~0.01%)

Observed / Expected Ratios?
LoF OE?0.08 (0.03–0.36)
0≤0.351.4
Missense OE?0.11 (0.08–0.15)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 1 / 13.1Missense obs/exp: 31 / 277.9Syn Z: -0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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