TMPRSS11E

Chr 4

transmembrane serine protease 11E

Also known as: DESC1, TMPRSS11E2

NCBI Gene: 28983ENSG00000087128UniProt: Q9UL52

Predicted to enable serine-type peptidase activity. Involved in cognition. Predicted to be located in extracellular region and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.91
LOEUF
Multiple*
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?
0.91LOEUF
pLI 0.000
Z-score 1.89
OE 0.58 (0.38–0.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.31Z-score
OE missense 0.94 (0.84–1.05)
217 obs / 230.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.38–0.91)
0≤0.351.4
Missense OE?0.94 (0.84–1.05)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 14 / 24.0Missense obs/exp: 217 / 230.2Syn Z: -0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMPRSS11E · 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