CPB2
Carboxypeptidase B2 (Thrombin-Activatable Fibrinolysis Inhibitor)
Gene Information Card
| Symbol | CPB2 |
|---|---|
| Full Name | Carboxypeptidase B2 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.13 |
| NCBI Gene ID | 1361 ncbi.nlm.nih.gov/gene/1361 |
| Ensembl ID | ENSG00000180616 |
| UniProt ID | Q96IY4 |
| OMIM ID | 603101 |
| HGNC ID | 2300 |
| Aliases | TAFI, CPU, PCPB, carboxypeptidase U |
Description
The CPB2 gene encodes carboxypeptidase B2, also known as thrombin-activatable fibrinolysis inhibitor (TAFI). This enzyme cleaves C-terminal lysine and arginine residues from partially degraded fibrin, thereby reducing plasminogen binding and attenuating fibrinolysis. CPB2 plays a critical role in the balance between coagulation and fibrinolysis, and its dysregulation is associated with thrombotic and bleeding disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thrombophilia | Increased TAFI activity reduces fibrinolysis, promoting venous thrombosis | PMID: 16990591 |
| Hemophilia A | Impaired TAFI activation may contribute to bleeding phenotype | PMID: 18043765 |
| Coronary artery disease | Elevated TAFI levels associated with increased risk of myocardial infarction | PMID: 17065184 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Placenta | 3.2 | Medium |
| Lung | 1.8 | Low |
| Kidney | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte cell line |
| HUVEC | 0.5 | Endothelial cells |
| THP-1 | 0.2 | Monocytic cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1040C>T (p.Thr347Ile) | Missense | 0.1% | Reduced TAFI activity |
| c.505G>A (p.Ala169Thr) | Missense | 0.3% | Altered activation by thrombin |
| c.678+1G>A | Splice site | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
c.678+1G>A splice site mutation leads to truncated protein and loss of carboxypeptidase activity.
Gain of Function (GOF)
Not well characterized; some missense variants may increase stability or activity.
Dominant Negative (DN)
No dominant negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • metallocarboxypeptidase activity (GO:0004181) | • proteolysis (GO:0006508) |
| • fibrinolysis (GO:0042730) | • extracellular region (GO:0005576) |
| • zinc ion binding (GO:0008270) |
Pathways
• Reactome: Formation of Fibrin Clot (Clotting Cascade)
• Reactome: Plasminogen Activation
• KEGG: Complement and coagulation cascades (hsa04610)
Protein Summary
Carboxypeptidase B2 (CPB2) is a 423-amino acid zinc-dependent metallocarboxypeptidase synthesized primarily in the liver and secreted into plasma as a zymogen. It is activated by thrombin in complex with thrombomodulin. Once active, TAFI removes C-terminal lysine residues from fibrin, reducing plasminogen binding and inhibiting fibrinolysis. CPB2 is a key regulator of clot stability and vascular patency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPB2 Knockout HEK293 Cell Line | EDJ-KQ2428 | Human | 1361 | Details Get a Quote |
| CPB2 Knockout HeLa Cell Line | EDJ-KQ52970 | Human | 1361 | Details Get a Quote |
| CPB2 Knockout A-549 Cell Line | EDJ-KQ61438 | Human | 1361 | Details Get a Quote |
| CPB2 Knockout HCT 116 Cell Line | EDJ-KQ69934 | Human | 1361 | Details Get a Quote |
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