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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CST2
cystatin SA
Chromosome 20 · 20p11.21
NCBI Gene: 1470Ensembl: ENSG00000170369.4HGNC: HGNC:2474UniProt: P09228
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615protein bindingdetection of chemical stimulus involved in sensory perception of bitter tastecysteine-type endopeptidase inhibitor activityneurodegenerative diseasegastric cancercancercolorectal carcinoma
✦AI Summary

CST2 (cystatin SA) is a cysteine protease inhibitor 1 that functions as a thiol protease inhibitor with selective activity against different cysteine proteases. The protein exists in two allelic variants (SA1 and SA2) encoding different amino acid sequences, with the QXVXG hairpin loop region critical for protease inhibition specificity 2. CST2 shows differential inhibitory potency against various cathepsins, with SA2 variant displaying substantially reduced inhibitory capacity against papain, ficin, and cathepsin K compared to SA1 2. Biologically, CST2 is significantly overexpressed in multiple malignancies including esophageal squamous cell carcinoma and gastric adenocarcinoma, where it promotes tumor progression 13. In esophageal cancer, CST2 knockdown reduces proliferation, migration, and invasion while decreasing tumor burden in vivo 1. CST2 facilitates pancreatic cancer malignancy through PI3K/AKT pathway activation, with transcription factor RUNX1 positively regulating CST2 expression 4. High CST2 expression independently predicts poor disease-specific and disease-free survival in esophageal cancer 1. Additionally, CST2 is upregulated in nasal epithelial myoepithelial and mucus-secretory cells in asthmatic youth, correlating with elevated total IgE levels 5. These findings establish CST2 as a potential tumor immune biomarker and therapeutic target across multiple cancer types.

Sources cited
1
CST2 is overexpressed in ESCC, promotes proliferation/migration/invasion, and independently predicts poor disease-specific and disease-free survival
PMID: 40257733
2
CST2 variants (SA1 and SA2) have different inhibitory activities against various cysteine proteases; amino acid substitutions in the QXVXG hairpin loop affect protease specificity
PMID: 9587407
3
CST2 is overexpressed in multiple tumors, associated with immune infiltration and prognosis, and drives proliferation/migration in gastric adenocarcinoma
PMID: 39926600
4
CST2 is upregulated in pancreatic cancer, promotes malignancy via PI3K/AKT pathway activation, and is regulated by transcription factor RUNX1
PMID: 37722526
5
CST2 is upregulated in nasal epithelial cells in asthmatic youth and correlates with total IgE levels as part of immune-related gene modules
PMID: 37742934
6
CST2 locus contains two alleles (CST2*1 and CST2*2) with point mutations resulting in amino acid substitutions affecting protease inhibitory activity
PMID: 10326727
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.33Weak
gastric cancerOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.06Suggestive
cystOpen Targets
0.06Suggestive
alcohol drinkingOpen Targets
0.05Suggestive
gastric adenocarcinomaOpen Targets
0.04Suggestive
liver diseaseOpen Targets
0.04Suggestive
ovarian dysfunctionOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
colorectal adenomaOpen Targets
0.02Suggestive
colorectal adenocarcinomaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
allergic rhinitisOpen Targets
0.02Suggestive
cardiovascular diseaseOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CA6Shared pathway100%CPPED1Protein interaction94%CST1Protein interaction87%CSTBProtein interaction73%CST4Protein interaction68%TAS2R42Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Lung
13%
Liver
0%
Ovary
0%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CST2CA6CPPED1CST1CSTBCST4TAS2R42
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P09228
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.67 [1.23–1.95]
RankingsWhere CST2 stands among ~20K protein-coding genes
  • #8,416of 20,598
    Most Researched53
  • #17,677of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedCST2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The role of CST2 in the pathogenesis and prognosis of esophageal squamous cell carcinoma.
PMID: 40257733
Clin Transl Oncol · 2025
1.00
2
Nasal epithelial gene expression and total IgE in children and adolescents with asthma.
PMID: 37742934
J Allergy Clin Immunol · 2024
0.90
3
Pan-cancer and experimental analyses reveal the immunotherapeutic significance of CST2 and its association with stomach adenocarcinoma proliferation and metastasis.
PMID: 39926600
Front Immunol · 2024
0.80
4
Production and characterization of two variants of human cystatin SA encoded by two alleles at the CST2 locus of the type 2 cystatin gene family.
PMID: 9587407
Arch Biochem Biophys · 1998
0.70
5
CST2 is activated by RUNX1 and promotes pancreatic cancer progression by activating PI3K/AKT pathway.
PMID: 37722526
Arch Biochem Biophys · 2023
0.60