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50 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.
CST3
cystatin C
Chromosome 20 Β· 20p11.21
NCBI Gene: 1471Ensembl: ENSG00000101439.10HGNC: HGNC:2475UniProt: A0A0K0K1J1
646PubMed Papers
23Diseases
0Drugs
1Pathogenic Variants
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
amyloid-beta bindingprotease bindingendopeptidase inhibitor activitycysteine-type endopeptidase inhibitor activityHereditary cerebral hemorrhage with amyloidosisACys amyloidosisHereditary cerebral hemorrhage with amyloidosis, Icelandic typeage-related macular degeneration
✦AI Summary

CST3 encodes cystatin C, a cysteine protease inhibitor localized to chromosome 20 1. As an endogenous inhibitor of cysteine proteases including cathepsin B and L, CST3 serves critical regulatory functions across multiple physiological systems 2. In pancreatic pathophysiology, CST3 protects against acute pancreatitis by inhibiting intrapancreatic protease cascades, though trypsin-mediated cleavage and allosteric activation of cathepsin B can paradoxically promote disease progression 2. CST3 regulates bone homeostasis through transcriptional control mechanisms, with elevated CST3 expression suppressing osteoclastic differentiation 3. In spermatogenesis, CST3 maintains spermatogonial stem cell homeostasis through autophagy regulation, where dysregulation associates with male infertility 4. The CST3 G73A polymorphism shows ethnicity-dependent associations with Alzheimer's disease risk in Caucasians but not Asians 5. CST3 is elevated in periodontal disease as a compensatory response to excessive proteolytic activity 6, and plasma CST3 levels predict aortic aneurysm/dissection risk up to 10 years prior to clinical diagnosis 7. However, CST3 gene detection is compromised in single-nucleus RNA sequencing of human microglial activation states 8, limiting assessment in neurodegenerative disease contexts.

Sources cited
1
CST3 gene location on chromosome 20 and membership in cystatin gene family
PMID: 2764935
2
CST3 functions as cysteine protease inhibitor and regulates acute pancreatitis through cathepsin B and L inhibition
PMID: 39962054
3
CST3 expression regulates bone homeostasis and osteoclastic/osteogenic differentiation
PMID: 39236936
4
CST3 maintains spermatogonial stem cell homeostasis via autophagy regulation; dysregulation associates with male infertility
PMID: 33754041
5
CST3 G73A polymorphism associated with Alzheimer's disease risk in Caucasians but not Asians
PMID: 22435454
6
CST3 elevated in periodontal disease as compensatory response to proteolytic activity
PMID: 34037438
7
Plasma CST3 predicts aortic aneurysm/dissection risk up to 10 years prior to diagnosis
PMID: 40576182
8
CST3 detection is depleted in single-nucleus RNA sequencing of human microglial activation states
PMID: 32997994
Disease Associationsβ“˜23
Hereditary cerebral hemorrhage with amyloidosisOpen Targets
0.59Moderate
ACys amyloidosisOpen Targets
0.52Moderate
Hereditary cerebral hemorrhage with amyloidosis, Icelandic typeOpen Targets
0.52Moderate
age-related macular degenerationOpen Targets
0.47Moderate
AL amyloidosisOpen Targets
0.46Moderate
age related macular degeneration 11Open Targets
0.46Moderate
agingOpen Targets
0.42Moderate
chronic kidney diseaseOpen Targets
0.39Weak
alcohol drinkingOpen Targets
0.28Weak
acute coronary syndromeOpen Targets
0.28Weak
cerebral amyloid angiopathyOpen Targets
0.26Weak
leukodystrophyOpen Targets
0.23Weak
acute kidney injuryOpen Targets
0.12Weak
coronary artery diseaseOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
cardiovascular diseaseOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.11Weak
metabolic syndromeOpen Targets
0.11Weak
strokeOpen Targets
0.10Weak
osteoporosisOpen Targets
0.10Suggestive
Cerebral amyloid angiopathy, CST3-relatedUniProt
Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathyUniProt
Macular degeneration, age-related, 11UniProt
Pathogenic Variants1
NM_000099.4(CST3):c.281T>A (p.Leu94Gln)Pathogenic
Hereditary cerebral amyloid angiopathy, Icelandic type
β˜†β˜†β˜†β˜†1994β†’ Residue 94
View on ClinVar β†—
Related Genes
APOEProtein interaction100%ALBProtein interaction100%CLUProtein interaction100%TTRProtein interaction99%LCN2Protein interaction97%CTSLProtein interaction95%
Tissue Expression6 tissues
Liver
100%
Heart
79%
Ovary
71%
Brain
70%
Lung
69%
Bone Marrow
38%
Gene Interaction Network
Click a node to explore
CST3APOEALBCLUTTRLCN2CTSL
PROTEIN STRUCTURE
Preparing viewer…
PDB3GAX Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.39 [0.81–1.91]
RankingsWhere CST3 stands among ~20K protein-coding genes
  • #348of 20,598
    Most Researched646 Β· top 5%
  • #4,610of 5,498
    Most Pathogenic Variants1
  • #17,336of 17,882
    Most Constrained (LOEUF)1.91
Genes detectedCST3
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Single-Nucleus RNA-Seq Is Not Suitable for Detection of Microglial Activation Genes in Humans.
PMID: 32997994
Cell Rep Β· 2020
1.00
2
[Cystatins].
PMID: 3330227
Postepy Biochem Β· 1987
0.92
3
Assessing kidney function--measured and estimated glomerular filtration rate.
PMID: 16760447
N Engl J Med Β· 2006
0.90
4
Structural organization, expression and chromosomal mapping of the mouse cystatin-C-encoding gene (Cst3).
PMID: 7835704
Gene Β· 1995
0.82
5
CST3 and GDF15 ameliorate renal fibrosis by inhibiting fibroblast growth and activation.
PMID: 29653105
Biochem Biophys Res Commun Β· 2018
0.80