SERPINE2

Chr 2

serpin family E member 2

Also known as: GDN, GDNPF, PI-7, PI7, PN-1, PN1, PNI

NCBI Gene: 5270 ENSG00000135919 UniProt: P07093 OMIM: 177010

SERPINE2 encodes a serine protease inhibitor that inhibits thrombin, trypsin, and urokinase, and promotes neurite extension by inhibiting thrombin. Mutations cause autosomal recessive progressive myoclonic epilepsy, with seizures and progressive neurological decline typically beginning in childhood or adolescence. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

OMIM ResearchGenerating clinical summary…

Clinical highlights

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)

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P/LP submissions

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P/LP missense

0.45

LOEUF

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Mechanism