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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CTSZ
cathepsin Z
Chromosome 20 · 20q13.32
NCBI Gene: 1522Ensembl: ENSG00000101160.16HGNC: HGNC:2547UniProt: Q9UBR2
85PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumcysteine-type peptidase activitycell cortexextracellular matrixneurodegenerative diseaseovarian dysfunctionMeniere diseaseneoplasm
✦AI Summary

CTSZ (cathepsin Z) is a cysteine-type peptidase that exhibits carboxy-monopeptidase and carboxy-dipeptidase activities 1, functioning primarily in lysosomes and extracellular matrices. Beyond its protease function, CTSZ plays critical roles in immune regulation and disease pathogenesis. In cancer, CTSZ defines an immunosuppressive macrophage subpopulation (APOE+CTSZ+TAM) in colorectal and lung cancers that exhibits anti-inflammatory characteristics and interacts with regulatory T cells 2. In prostate cancer, the CTSZ-TRA2A-IL32 axis promotes M2-macrophage infiltration and metastatic dissemination via proteasomal degradation of TRA2A, which alleviates suppression of IL32 splicing and subsequent IL-32 secretion 3. CTSZ overexpression associates with poor prognosis, advanced pathological staging, immune-enriched microenvironments, and elevated PD-1/PD-L1 expression 4. In tuberculosis, CTSZ functions at the host-pathogen interface within granuloma-associated macrophages. The conserved CTSZ-CXCL1 axis mediates TB severity; Ctsz ablation in mice increases bacterial burden and pulmonary inflammation, while CTSZ variants associate with TB disease severity in humans 56. In pulmonary arterial hypertension, CTSZ hypermethylation decreases mRNA levels and increases endothelial cell apoptosis 7. Additionally, CTSZ promotes multiple myeloma cell apoptosis through PDCD4-mediated translational regulation 8.

Sources cited
1
CTSZ exhibits carboxy-monopeptidase and carboxy-dipeptidase enzymatic activities
PMID: 10504234
2
APOE+CTSZ+TAM is an immunosuppressive tumor-associated macrophage subpopulation in colorectal and lung cancers with anti-inflammatory gene expression
PMID: 36587392
3
CTSZ promotes metastasis through the TRA2A-IL32-ITGA5 axis by driving M2-macrophage infiltration in prostate cancer
PMID: 40764928
4
CTSZ overexpression in prostate cancer associates with higher Gleason scores, advanced staging, poor prognosis, and immunosuppressive tumor microenvironment with elevated PD-1/PD-L1
PMID: 40568593
5
The CTSZ-CXCL1 axis in macrophages mediates TB disease severity; Ctsz ablation increases bacterial burden and inflammation
PMID: 40924769
6
CTSZ variation plays a role in TB susceptibility with chromosome 20q13.31-33 locus showing strongest linkage evidence reported for TB
PMID: 18420963
7
CTSZ hypermethylation in pulmonary arterial hypertension associates with decreased mRNA levels and increased endothelial cell apoptosis
PMID: 38184627
8
PDCD4 binds to the IRES domain in CTSZ 5' UTR to promote multiple myeloma cell apoptosis by inhibiting CTSZ translation
PMID: 39190024
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.42Moderate
ovarian dysfunctionOpen Targets
0.28Weak
Meniere diseaseOpen Targets
0.26Weak
neoplasmOpen Targets
0.11Weak
posterior cortical atrophyOpen Targets
0.10Weak
ThrombocytopeniaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
primary biliary cirrhosisOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Townes-Brocks syndromeOpen Targets
0.08Suggestive
pulmonary arterial hypertensionOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
osteoporosisOpen Targets
0.07Suggestive
OsteopeniaOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
thrombocytopenia 4Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BCL2Protein interaction91%BCL2L1Protein interaction91%BIDProtein interaction90%AGTProtein interaction85%MC3RProtein interaction85%ATP5F1EProtein interaction83%
Tissue Expression6 tissues
Liver
100%
Lung
88%
Heart
44%
Bone Marrow
35%
Ovary
22%
Brain
11%
Gene Interaction Network
Click a node to explore
CTSZBCL2BCL2L1BIDAGTMC3RATP5F1E
PROTEIN STRUCTURE
Preparing viewer…
PDB1DEU · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.28 [1.01–1.63]
RankingsWhere CTSZ stands among ~20K protein-coding genes
  • #5,602of 20,598
    Most Researched85
  • #15,780of 17,882
    Most Constrained (LOEUF)1.63
Genes detectedCTSZ
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-cell and spatial analyses reveal the association between gene expression of glutamine synthetase with the immunosuppressive phenotype of APOE+CTSZ+TAM in cancers.
PMID: 36587392
Mol Oncol · 2023
1.00
2
Association of CTSZ rs34069356 and MC3R rs6127698 gene polymorphisms with pulmonary tuberculosis.
PMID: 23827504
Int J Tuberc Lung Dis · 2013
0.90
3
The CTSZ-TRA2A-IL32 axis defines a targetable macrophage-dependent pathway in metastatic prostate cancer.
PMID: 40764928
J Transl Med · 2025
0.80
4
Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertension.
PMID: 38184627
Nat Commun · 2024
0.70
5
Prognostic and immunological implications of cathepsin Z overexpression in prostate cancer.
PMID: 40568593
Front Immunol · 2025
0.60