TUBB6

Chr 18

tubulin beta 6 class V

Also known as: FPVEPD, HsT1601, TUBB-5

NCBI Gene: 84617ENSG00000176014UniProt: Q9BUF5

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…

Primary Disease Associations & Inheritance

UniProtFacial palsy, congenital, with ptosis and velopharyngeal dysfunction
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.04
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.04LOEUF
pLI 0.000
Z-score 1.46
OE 0.58 (0.34–1.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
2.64Z-score
OE missense 0.57 (0.50–0.65)
171 obs / 299.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.58 (0.34–1.04)
0≤0.351.4
Missense OE?0.57 (0.50–0.65)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 8 / 13.9Missense obs/exp: 171 / 299.4Syn Z: 0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TUBB6 · 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