TLL2

Chr 10

tolloid like 2

NCBI Gene: 7093ENSG00000095587UniProt: Q9Y6L7

This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.15
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?
1.15LOEUF
pLI 0.000
Z-score 0.62
OE 0.91 (0.72–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.45Z-score
OE missense 0.95 (0.89–1.02)
596 obs / 627.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.91 (0.72–1.15)
0≤0.351.4
Missense OE?0.95 (0.89–1.02)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 50 / 55.0Missense obs/exp: 596 / 627.5Syn Z: 1.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TLL2 · 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