TMPRSS11F

Chr 4

transmembrane serine protease 11F

Also known as: HATL4

NCBI Gene: 389208ENSG00000198092UniProt: Q6ZWK6

Predicted to enable serine-type peptidase activity. Predicted to be involved in protein processing. Predicted to act upstream of or within establishment of skin barrier. Located in cell surface. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.00
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.000
Z-score 1.56
OE 0.67 (0.47–1.00)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.39Z-score
OE missense 0.93 (0.83–1.04)
212 obs / 228.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.47–1.00)
0≤0.351.4
Missense OE?0.93 (0.83–1.04)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 18 / 26.7Missense obs/exp: 212 / 228.5Syn Z: -0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMPRSS11F · 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