SERPINB11

Chr 18

serpin family B member 11

Also known as: EPIPIN, SERPIN11

NCBI Gene: 89778 ENSG00000206072 UniProt: Q96P15 OMIM: 615682

The protein is predicted to have serine-type endopeptidase inhibitor activity in the cytoplasm and extracellular space, though UniProt notes it lacks actual serine protease inhibitory activity due to structural variants. This gene is not well-established as a cause of human genetic disease, as it shows very low intolerance to loss-of-function variants (pLI near 0, LOEUF >1). No clear Mendelian disease associations or inheritance patterns have been definitively established for SERPINB11 mutations.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be located in cytoplasm. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.16

LOEUF

Multiple*

Mechanism· predicted