TUBB8B

Chr 18

tubulin beta 8B

Also known as: TUBB8P12

NCBI Gene: 260334ENSG00000173213UniProt: A6NNZ2

Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in intercellular bridge; microtubule; and mitotic spindle. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.87
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.87LOEUF
pLI 0.000
Z-score -0.26
OE 1.14 (0.57–1.87)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.37Z-score
OE missense 1.41 (1.30–1.54)
369 obs / 261.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.14 (0.57–1.87)
0≤0.351.4
Missense OE?1.41 (1.30–1.54)
0≤0.61.4
Synonymous OE?1.73
0≤1.21.6
LoF obs/exp: 5 / 4.4Missense obs/exp: 369 / 261.2Syn Z: -5.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TUBB8B · 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