TMPRSS11D

Chr 4

transmembrane serine protease 11D

Also known as: ASP, HAT

This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. This protein facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. [provided by RefSeq, Aug 2021]

OMIMResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
0.92
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.92LOEUF
pLI 0.000
Z-score 1.84
OE 0.55 (0.350.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.48Z-score
OE missense 0.91 (0.811.02)
198 obs / 218.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.350.92)
00.351.4
Missense OE?0.91 (0.811.02)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 11 / 19.9Missense obs/exp: 198 / 218.1Syn Z: -0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TMPRSS11D · 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

No active trials found for this gene.

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