HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CPB2
carboxypeptidase B2
Chromosome 13 · 13q14.13
NCBI Gene: 1361Ensembl: ENSG00000080618.17HGNC: HGNC:2300UniProt: A0A087WSY5
236PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomemetallocarboxypeptidase activityproteolysisfibrinolysistype 2 diabetes mellitusdeficiency anemiaVon Willebrand diseasenon-small cell lung carcinoma
✦AI Summary

CPB2 encodes carboxypeptidase B2 (also called thrombin-activatable fibrinolysis inhibitor, TAFI), a hepatically secreted zymogen that functions as a potent regulator of fibrinolysis and inflammation 1. Upon activation by thrombin-thrombomodulin or plasmin, CPB2 cleaves C-terminal basic residues (arginine or lysine) from biologically active peptides, including kinins and anaphylatoxins, thereby regulating their activities 1. Critically, CPB2 down-regulates fibrinolysis by removing C-terminal lysine residues from partially degraded fibrin, forming a molecular link between coagulation and fibrinolysis 2. Genetic variation in CPB2 is clinically significant; the Ala147Thr variant shows sex-specific protection against venous thrombosis in females but not males 3, while the Thr325Ile polymorphism may influence thrombotic predisposition 1. CPB2 variants in the exon 6-7 region are maintained by balancing selection and exhibit haplotype-preferential splicing, suggesting functional importance of alternative isoforms 2. Sex steroid hormones (estrogen and progesterone) decrease CPB2 expression and plasma TAFI levels through indirect signaling mechanisms, providing molecular explanation for altered thrombotic risk with hormone therapy 4. Elevated CPB2 activity contributes to impaired fibrinolysis in immune thrombocytopenia patients, correlating with increased thrombotic risk 5.

Sources cited
1
CPB2 encodes a zymogen activated by thrombin-thrombomodulin or plasmin; describes function as potent attenuator of fibrinolysis and molecular link between coagulation and fibrinolysis
PMID: 33477318
2
Ala147Thr variant shows sex-specific protective effect against venous thrombosis in females (OR=0.81) but not males (OR=1.06)
PMID: 28552956
3
CPB2 variants in exon 6-7 region maintained by balancing selection; demonstrates haplotype-preferential splicing of exon 7 with functional consequences for antifibrinolytic activity
PMID: 20237223
4
Estrogen and progesterone decrease TAFI protein levels and CPB2 mRNA through indirect signaling mechanism involving PI3K and Akt, not through estrogen receptor binding to CPB2 promoter
PMID: 23429253
5
CPB2/TAFI contributes to impaired fibrinolysis in primary immune thrombocytopenia patients, correlating with increased thrombotic risk
PMID: 39214313
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.19Weak
deficiency anemiaOpen Targets
0.05Suggestive
Von Willebrand diseaseOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.05Suggestive
head and neck squamous cell carcinomaOpen Targets
0.05Suggestive
platelet-type von Willebrand diseaseOpen Targets
0.04Suggestive
ovarian neoplasmOpen Targets
0.04Suggestive
Glanzmann thrombasthenia 1Open Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
achalasia-alacrima syndromeOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
small cell lung carcinomaOpen Targets
0.03Suggestive
inflammatory breast carcinomaOpen Targets
0.03Suggestive
ThromboembolismOpen Targets
0.03Suggestive
Acute hepatic failureOpen Targets
0.02Suggestive
upper respiratory tract disorderOpen Targets
0.02Suggestive
Venous thrombosisOpen Targets
0.02Suggestive
cardiovascular diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
F2Protein interaction99%PLGProtein interaction98%THBDProtein interaction96%CPB1Protein interaction94%PLATProtein interaction92%SERPINF2Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Lung
0%
Bone Marrow
0%
Brain
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CPB2F2PLGTHBDCPB1PLATSERPINF2
PROTEIN STRUCTURE
Preparing viewer…
PDB4P10 · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.74–1.37]
RankingsWhere CPB2 stands among ~20K protein-coding genes
  • #1,668of 20,598
    Most Researched236 · top 10%
  • #14,308of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedCPB2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Brain Expression of CPB2 and Effects of Cpb2 Deficiency in Mouse Models of Behavior.
PMID: 37532120
Thromb Haemost · 2024
1.00
2
The occurrence of cpb2-toxigenic Clostridium perfringens and the possible role of the beta2-toxin in enteric disease of domestic animals, wild animals and humans.
PMID: 19101180
Vet J · 2010
0.90
3
Sex-specific effect of CPB2 Ala147Thr but not Thr325Ile variants on the risk of venous thrombosis: A comprehensive meta-analysis.
PMID: 28552956
PLoS One · 2017
0.80
4
Polymorphisms in the CPB2 gene are maintained by balancing selection and result in haplotype-preferential splicing of exon 7.
PMID: 20237223
Mol Biol Evol · 2010
0.70
5
Serum Protein-Based Profiles for the Diagnostic Model of Alzheimer's Disease.
PMID: 38041525
Am J Alzheimers Dis Other Demen · 2023
0.68