SERPINF2 Chromosome 17
Serpin family F member 2
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What This Gene Does
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]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000167711
Associated Conditions (2)
Alpha-2-plasmin inhibitor deficiency
Abnormal bleeding
Key Variants
RS142502473
Conflicting classifications of pathogenicity
Health Risk
RS144824741
Conflicting classifications of pathogenicity
Health Risk
RS144890920
Conflicting classifications of pathogenicity
Health Risk
RS201542762
Conflicting classifications of pathogenicity
Health Risk
RS200885603
Likely pathogenic
Health Risk
RS121965061
Pathogenic
Alpha-2-plasmin inhibitor deficiency, Alpha-2-plasmin inhibitor deficiency
Health Risk
RS121965062
Pathogenic
Alpha-2-plasmin inhibitor deficiency, Alpha-2-plasmin inhibitor deficiency
Health Risk
RS1597325785
Pathogenic
Abnormal bleeding, Abnormal bleeding
Health Risk
RS2543443583
Pathogenic
Alpha-2-plasmin inhibitor deficiency, Alpha-2-plasmin inhibitor deficiency
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142502473 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144824741 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144890920 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201542762 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200885603 | Health Risk | Likely pathogenic | — |
| RS121965061 | Health Risk | Pathogenic | Alpha-2-plasmin inhibitor deficiency, Alpha-2-plasmin inhibitor deficiency |
| RS121965062 | Health Risk | Pathogenic | Alpha-2-plasmin inhibitor deficiency, Alpha-2-plasmin inhibitor deficiency |
| RS1597325785 | Health Risk | Pathogenic | Abnormal bleeding, Abnormal bleeding |
| RS2543443583 | Health Risk | Pathogenic | Alpha-2-plasmin inhibitor deficiency, Alpha-2-plasmin inhibitor deficiency |