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SERPINF2

Chr 17p13.3

serpin family F member 2

Aliases:
API, ALPHA-2-PI, A2AP, AAP, alpha2AP
MANE:
ENST00000453066.6
OMIM: 613168 ↗NCBI: 5345 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Inherited bleeding disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • alpha-2-plasmin inhibitor deficiency

    0.66

  • Congenital alpha2 antiplasmin deficiency

    0.46

  • Abnormal bleeding

    0.37

  • hypogonadism

    0.34

  • Hodgkins lymphoma

    0.33

  • metabolic disease

    0.28

  • hyperlipidemia

    0.27

  • adolescent idiopathic scoliosis

    0.12

  • systemic sclerosis

    0.09

  • melanoma

    0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Alpha-2-antiplasmin

Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase-3/TMPRSS7 and chymotrypsin

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.