SERPINF2
Serpin Family F Member 2 (Alpha-2-Antiplasmin)
Gene Information Card
| Symbol | SERPINF2 |
|---|---|
| Full Name | Serpin Family F Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 5345 ncbi.nlm.nih.gov/gene/5345 |
| Ensembl ID | ENSG00000167711 |
| UniProt ID | P08697 |
| OMIM ID | 613168 |
| HGNC ID | 9075 |
| Aliases | A2AP, AAP, PLI, alpha-2-antiplasmin, alpha-2-plasmin inhibitor |
Description
SERPINF2 (serpin family F member 2) encodes alpha-2-antiplasmin, a serine protease inhibitor (serpin) that rapidly inhibits plasmin, thereby regulating fibrinolysis. It is primarily synthesized in the liver and circulates in plasma. Deficiency or dysfunction of alpha-2-antiplasmin leads to uncontrolled fibrinolysis and a bleeding tendency known as alpha-2-antiplasmin deficiency (OMIM 262850).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alpha-2-antiplasmin deficiency | Loss-of-function mutations reduce plasmin inhibition, causing hyperfibrinolysis and bleeding | ClinVar, OMIM |
| Thrombotic disorders | Elevated alpha-2-antiplasmin levels may contribute to thrombotic risk by impairing fibrinolysis | NCBI Gene, literature |
| Amyloidosis | Rare variants in SERPINF2 have been associated with hereditary amyloidosis | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 127.2 | High |
| Plasma | N/A | High (secreted) |
| Kidney | 4.5 | Low |
| Lung | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 98.3 | Hepatocyte cell line |
| HEK293 | 1.2 | Low expression |
| K562 | 0.5 | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.46G>T (p.Glu16Ter) | Nonsense | Rare | Loss of function; causes alpha-2-antiplasmin deficiency |
| c.1240C>T (p.Arg414Ter) | Nonsense | Rare | Loss of function; associated with bleeding |
| c.1169G>A (p.Arg390His) | Missense | Rare | Reduced inhibitory activity; mild deficiency |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the reactive center loop, leading to reduced plasmin inhibition and hyperfibrinolysis.
Gain of Function (GOF)
Not reported for SERPINF2.
Dominant Negative (DN)
Heterozygous missense variants may exert a dominant-negative effect by forming inactive polymers, though this is rare.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:154 – Fibrinolysis pathway
• REACT:111102 – Hemostasis
• REACT:111045 – Plasminogen activating cascade
Protein Summary
Alpha-2-antiplasmin is a 70 kDa glycoprotein composed of 491 amino acids. It contains a serpin domain with a reactive center loop that binds and inhibits plasmin. The protein is cross-linked to fibrin by factor XIIIa, localizing its activity to clots. It also interacts with plasminogen and other extracellular matrix components.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINF2 Knockout HEK293 Cell Line | EDJ-KQ2488 | Human | 5345 | Details Get a Quote |
| SERPINF2 Knockout HCT 116 Cell Line | EDJ-KQ23075 | Human | 5345 | Details Get a Quote |
| SERPINF2 Knockout HeLa Cell Line | EDJ-KQ23076 | Human | 5345 | Details Get a Quote |
| SERPINF2 Knockout A-549 Cell Line | EDJ-KQ21712 | Human | 5345 | Details Get a Quote |
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