SERPINE2 (Serpin Family E Member 2)
A key regulator of extracellular matrix remodeling, coagulation, and tumor progression.
Gene Information Card
| Symbol | SERPINE2 |
|---|---|
| Full Name | Serpin Family E Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q36.1 |
| NCBI Gene ID | 5270 ncbi.nlm.nih.gov/gene/5270 |
| Ensembl ID | ENSG00000135919 |
| UniProt ID | P07093 |
| OMIM ID | 177010 |
| HGNC ID | 9037 |
| Aliases | PN1, GDN, GDNPF, PI-7, PN-1, PNI |
Description
SERPINE2 (serpin family E member 2) encodes protease nexin 1 (PN1), a serine protease inhibitor that regulates thrombin, plasminogen activators, and trypsin. It plays critical roles in hemostasis, extracellular matrix remodeling, neural development, and cancer progression. The protein is secreted and localizes to the extracellular matrix.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | SERPINE2 inhibits thrombin and plasmin; dysregulation may contribute to amyloid-beta accumulation and neuroinflammation. | ClinVar, NCBI Gene |
| Prostate cancer | Overexpression of SERPINE2 promotes tumor cell invasion and metastasis by modulating the plasminogen activation system. | COSMIC, NCBI Gene |
| Ovarian cancer | Increased SERPINE2 expression correlates with poor prognosis and enhanced tumor cell migration. | COSMIC, NCBI Gene |
| Hemophilia A | SERPINE2 mutations can modify bleeding phenotype by altering thrombin inhibition. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Prostate | 15.2 | Medium |
| Ovary | 11.4 | Medium |
| Testis | 18.9 | High |
| Placenta | 22.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| A549 | 9.8 | Lung adenocarcinoma cell line |
| PC-3 | 16.7 | Prostate cancer cell line |
| MCF-7 | 7.2 | Breast cancer cell line |
| SK-OV-3 | 12.1 | Ovarian cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Reduced inhibitory activity against thrombin |
| c.374G>A (p.Arg125His) | Missense | <0.01% | Unknown functional effect |
| c.682C>T (p.Arg228Trp) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Thr34Met) reduce protease inhibitory activity.
Gain of Function (GOF)
Not well documented; overexpression in cancer is associated with increased invasion.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity | • extracellular matrix binding |
| • heparin binding | • protease binding |
| • extracellular space | • extracellular matrix |
| • negative regulation of endopeptidase activity | • negative regulation of fibrinolysis |
Pathways
• Plasminogen activating cascade
• Complement and coagulation cascades
• Extracellular matrix organization
Protein Summary
Protease nexin 1 (PN1) is a 45 kDa secreted serpin that rapidly inhibits thrombin, urokinase-type plasminogen activator (uPA), and tissue-type plasminogen activator (tPA). It binds to heparin and extracellular matrix components, localizing its activity to cell surfaces. PN1 is involved in synaptic plasticity, wound healing, and tumor invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINE2 Knockout HEK293 Cell Line | EDJ-KQ927 | Human | 5270 | Details Get a Quote |
| SERPINE2 Knockout A-549 Cell Line | EDJ-KQ18569 | Human | 5270 | Details Get a Quote |
| SERPINE2 Knockout HCT 116 Cell Line | EDJ-KQ19901 | Human | 5270 | Details Get a Quote |
| SERPINE2 Knockout HeLa Cell Line | EDJ-KQ19902 | Human | 5270 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
