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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CST6
cystatin E/M
Chromosome 11 · 11q13.1
NCBI Gene: 1474Ensembl: ENSG00000175315.3HGNC: HGNC:2478UniProt: Q15828
64PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingextracellular exosomeanatomical structure morphogenesiscysteine-type endopeptidase inhibitor activityautosomal recessive hypohidrotic ectodermal dysplasiaosteoarthritis, hiptotal hip arthroplastyneoplasm
✦AI Summary

CST6 (cystatin E/M) is a secreted cysteine protease inhibitor that functions as a tumor suppressor and regulator of bone homeostasis. CST6 inhibits cathepsin L, cathepsin V, cathepsin K, cathepsin B, and legumain proteases 12. The protein plays a critical role in suppressing osteoclast differentiation and bone destruction by blocking cathepsin-mediated cleavage of NF-κB/p100 and TRAF3 following RANKL stimulation 2. In breast cancer, CST6 acts as a tumor suppressor that is frequently silenced through promoter hypermethylation, particularly in metastatic lesions (67% of lymph node metastases vs 27% of primary tumors) 3. CST6 suppresses breast cancer bone metastasis through the CST6-CTSB-SPHK1 signaling axis, where CST6 enters osteoclasts via endocytosis and inhibits CTSB activity 1. In multiple myeloma, elevated CST6 expression is associated with absence of osteolytic lesions and protects against bone disease 2. CST6 also modulates gene expression in breast cancer cells, notably down-regulating autotaxin, which contributes to its anti-proliferative and anti-invasive effects 4. Clinically, CST6-based therapeutics show promise for treating bone metastases and osteolytic diseases 15.

Sources cited
1
CST6 inhibits cathepsin B and suppresses breast cancer bone metastasis through the CST6-CTSB-SPHK1 signaling axis
PMID: 34815788
2
CST6 blocks osteoclast differentiation by suppressing cathepsin-mediated cleavage of NF-κB/p100 and TRAF3, and is associated with absence of osteolytic lesions in multiple myeloma
PMID: 35881476
3
CST6 is silenced through promoter hypermethylation in 67% of lymph node metastases versus 27% of primary breast tumors
PMID: 17540367
4
CST6 down-regulates autotaxin and exhibits anti-proliferative and anti-invasive effects in breast cancer cells
PMID: 16356477
5
CST6-based CAR-T cells show therapeutic promise for treating multiple myeloma and preventing bone damage
PMID: 37883186
Disease Associationsⓘ21
autosomal recessive hypohidrotic ectodermal dysplasiaOpen Targets
0.44Moderate
osteoarthritis, hipOpen Targets
0.18Weak
total hip arthroplastyOpen Targets
0.18Weak
neoplasmOpen Targets
0.10Weak
Miyoshi myopathyOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
melanomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
preeclampsiaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
Keratoderma hereditarium mutilans with ichthyosisOpen Targets
0.05Suggestive
inflammatory breast carcinomaOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
Hallux valgusOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
lamellar ichthyosisOpen Targets
0.04Suggestive
Olmsted syndrome 1Open Targets
0.04Suggestive
erythrokeratodermia variabilisOpen Targets
0.04Suggestive
Short rib-polydactyly syndrome, Verma-Naumoff typeOpen Targets
0.04Suggestive
Jeune syndromeOpen Targets
0.04Suggestive
Ectodermal dysplasia 15, hypohidrotic/hair typeUniProt
Pathogenic Variants1
NM_001323.4(CST6):c.361C>T (p.Gln121Ter)Pathogenic
Ectodermal dysplasia 15, hypohidrotic/hair type
☆☆☆☆2019→ Residue 121
View on ClinVar ↗
Related Genes
LBX1Shared pathway100%SCML2Shared pathway100%HOXC13Shared pathway100%GSC2Shared pathway100%LGMNProtein interaction100%TGM3Protein interaction87%
Tissue Expression6 tissues
Lung
100%
Ovary
4%
Heart
2%
Liver
1%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CST6LBX1SCML2HOXC13GSC2LGMNTGM3
PROTEIN STRUCTURE
Preparing viewer…
PDB4N6O · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.49LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.52–1.49]
RankingsWhere CST6 stands among ~20K protein-coding genes
  • #7,254of 20,598
    Most Researched64
  • #5,026of 5,498
    Most Pathogenic Variants1
  • #15,103of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedCST6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CST6 protein and peptides inhibit breast cancer bone metastasis by suppressing CTSB activity and osteoclastogenesis.
PMID: 34815788
Theranostics · 2021
1.00
2
CST6 suppresses osteolytic bone disease in multiple myeloma by blocking osteoclast differentiation.
PMID: 35881476
J Clin Invest · 2022
0.90
3
Measurement of Organ-Specific and Acute-Phase Blood Protein Levels in Early Lyme Disease.
PMID: 31618575
J Proteome Res · 2020
0.80
4
The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis.
PMID: 12839564
J Invest Dermatol · 2003
0.70
5
Single-cell transcriptomics reveals the aggressive landscape of high-grade serous carcinoma and therapeutic targets in tumor microenvironment.
PMID: 38714290
Cancer Lett · 2024
0.60