TMPRSS11E

Chr 4

transmembrane serine protease 11E

Also known as: DESC1, TMPRSS11E2

NCBI Gene: 28983 ENSG00000087128 UniProt: Q9UL52 OMIM: 610399

The protein is a serine protease with gelatinolytic and caseinolytic activities that shows preference for arginine at the P1 position and is predicted to be active at the plasma membrane. Mutations cause autosomal recessive intellectual disability, with this gene being highly tolerant to loss-of-function variants in the general population. The condition primarily affects cognitive development and is inherited in an autosomal recessive pattern.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Multiplemechanism

Clinical Summary— TMPRSS11E

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Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

This gene — mechanism propensity

0.74top 25%

GOF

0.6540th %ile

LOF

0.2776th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.