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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CPZ
carboxypeptidase Z
Chromosome 4 Β· 4p16.1
NCBI Gene: 8532Ensembl: ENSG00000109625.20HGNC: HGNC:2333UniProt: A0A384MDV6
21PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615extracellular matrixcarboxypeptidase activityprotein processingAbnormality of the skeletal systemneurodegenerative diseaseneuroblastomaShort stature
✦AI Summary

Based on the available literature, CPZ (carboxypeptidase Z) is a metallopeptidase that demonstrates tissue-specific expression patterns and potential clinical utility as a diagnostic biomarker. CPZ exhibits cytoplasmic expression in normal hepatocytes, pancreatic islets, and gallbladder epithelium, but shows no expression in most other normal tissues 1. The protein demonstrates significant diagnostic value for hepatocellular carcinoma (HCC), with a positive expression rate of 90.8% in HCC cases compared to only 27.7% in intrahepatic cholangiocarcinoma and 0% in metastatic liver tumors 1. When used in combination with other markers like arginase-1 and hepatocyte paraffin antigen-1, CPZ achieves high diagnostic accuracy with an AUC of 0.939 for HCC diagnosis 1. As an individual marker, CPZ shows superior performance compared to established hepatocyte markers, particularly in poorly differentiated HCC cases 1. Genetic polymorphisms in the CPZ gene (rs3796725 and rs3796727) have been investigated for neuroblastoma susceptibility, though no significant associations were found in Chinese populations 2. The available evidence is limited regarding CPZ's specific enzymatic mechanisms and broader physiological functions, requiring additional research to fully characterize this metallopeptidase.

Sources cited
1
CPZ expression patterns in normal tissues and diagnostic utility for hepatocellular carcinoma
PMID: 40189907
2
Investigation of CPZ gene polymorphisms and neuroblastoma susceptibility
PMID: 29653227
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
neuroblastomaOpen Targets
0.33Weak
Short statureOpen Targets
0.32Weak
systemic lupus erythematosusOpen Targets
0.12Weak
kidney diseaseOpen Targets
0.12Weak
drug allergyOpen Targets
0.12Weak
liver diseaseOpen Targets
0.11Weak
poisoningOpen Targets
0.11Weak
response to xenobiotic stimulusOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
osteoporosisOpen Targets
0.10Weak
glioblastoma multiformeOpen Targets
0.10Suggestive
gastric cancerOpen Targets
0.10Suggestive
amputationOpen Targets
0.09Suggestive
lymphatic system diseaseOpen Targets
0.08Suggestive
vein disorderOpen Targets
0.08Suggestive
infectionOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
Pathogenic Variants1
NM_001014447.3(CPZ):c.493C>T (p.Arg165Trp)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 165
View on ClinVar β†—
Related Genes
AEBP1Shared pathway100%CPDShared pathway100%AFF1Protein interaction91%CPMShared pathway75%TMPRSS11FShared pathway67%PRSS41Shared pathway67%
Tissue Expression6 tissues
Ovary
100%
Lung
1%
Brain
0%
Liver
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CPZAEBP1CPDAFF1CPMTMPRSS11FPRSS41
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q66K79
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.79 [1.51–1.97]
RankingsWhere CPZ stands among ~20K protein-coding genes
  • #13,876of 20,598
    Most Researched21
  • #5,359of 5,498
    Most Pathogenic Variants1
  • #17,770of 17,882
    Most Constrained (LOEUF)1.97
Genes detectedCPZ
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
RSRC1 and CPZ gene polymorphisms with neuroblastoma susceptibility in Chinese children.
PMID: 29653227
Gene Β· 2018
1.00
2
Comparison of Pharmacological Treatments for Agitated Delirium in the Last Days of Life.
PMID: 38355071
J Pain Symptom Manage Β· 2024
0.90
3
CPZ: A Highly Sensitive Diagnostic Biomarker for the Differentiation Between Hepatocellular Carcinoma and Intrahepatic Cholangiocarcinoma, Particularly in Poorly Differentiated Hepatocellular Carcinoma.
PMID: 40189907
Am J Surg Pathol Β· 2025
0.80
4
Immunomodulatory Effects of Exercise in Experimental Multiple Sclerosis.
PMID: 31572399
Front Immunol Β· 2019
0.70
5
Chlorpromazine directly inhibits Kv1.3 channels by facilitating the inactivation of channels.
PMID: 40340862
Mol Brain Β· 2025
0.60