TTLL9

Chr 20

tubulin tyrosine ligase like 9

Also known as: C20orf125

NCBI Gene: 164395ENSG00000131044UniProt: Q3SXZ7

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in flagellated sperm motility and microtubule cytoskeleton organization. Predicted to act upstream of or within protein polyglutamylation. Predicted to be located in cytoplasm; microtubule; and motile cilium. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.28
LOEUF
—
Mechanism
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?
1.28LOEUF
pLI 0.000
Z-score 0.32
OE 0.94 (0.69–1.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.44Z-score
OE missense 0.93 (0.83–1.03)
250 obs / 270.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.94 (0.69–1.28)
0≤0.351.4
Missense OE?0.93 (0.83–1.03)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 28 / 29.9Missense obs/exp: 250 / 270.2Syn Z: 1.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TTLL9 · 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