SERPINF2

Chr 17AR

serpin family F member 2

Also known as: A2AP, AAP, ALPHA-2-PI, API, PLI, alpha2AP

NCBI Gene: 5345 ENSG00000167711 UniProt: P08697 OMIM: 613168

This protein is a serine protease inhibitor that serves as the major inhibitor of plasmin, thereby regulating fibrin degradation and blood clotting. Mutations cause alpha-2-plasmin inhibitor deficiency, an autosomal recessive bleeding disorder characterized by severe hemorrhagic diathesis due to impaired regulation of the coagulation pathway. The gene shows tolerance to loss-of-function variants (low pLI), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Alpha-2-plasmin inhibitor deficiencyMIM #262850

Clinical highlights

Gene-disease validity (ClinGen)

alpha-2-plasmin inhibitor deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.63

LOEUF

Multiple*

Mechanism· predicted