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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CMA1
chymase 1
Chromosome 14 · 14q12
NCBI Gene: 1215Ensembl: ENSG00000092009.10HGNC: HGNC:2097UniProt: P23946
134PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
serine-type endopeptidase activityextracellular matrixbasement membrane disassemblyregulation of inflammatory responsepernicious anemiamyocardial infarctionneoplasmhepatocellular carcinoma
✦AI Summary

CMA1 encodes chymase 1, a major serine protease secreted from mast cell granules with critical roles in tissue remodeling and immunity 1. Functionally, CMA1 cleaves extracellular matrix proteins and vasoactive peptides, contributing to cartilage breakdown in osteoarthritis where it acts alongside MMP13 and ADAMTS5 to generate proteolytic biomarkers detectable in synovial fluid 2. CMA1 expression is lineage-restricted to mast cells and some myeloid populations, with cotranscription alongside cathepsin G in mast cell lines, suggesting coordinated protease regulation 1. Clinically, CMA1-expressing mast cells have emerged as significant drivers of disease pathology. In deep vein thrombosis, chymase inhibition prevented thrombus formation without prolonging bleeding time by degrading plasmin, offering a novel anticoagulant strategy 3. In pregnancy, CMA1 promotes spiral artery remodeling by enhancing vascular and trophoblast cell migration and matrix metalloproteinase activity 4. CMA1 expression correlates with poor overall and progression-free survival in gastric cancer, associating with CD4+, CD8+ T cell, neutrophil, macrophage, and dendritic cell infiltration 5. In endometriosis, upregulated CMA1 within estrogen-rich lesions contributes to chr14 inflammation and pelvic pain 6. CMA1+ mast cells also represent functional immune subsets with prognostic value in bladder cancer 7.

Sources cited
1
CMA1 maps to chromosome 14q11.2 within a protease gene cluster; shows lineage-restricted expression in mast cells with cotranscription of cathepsin G
PMID: 8468056
2
CMA1 degrades cartilage extracellular matrix proteins in osteoarthritis with distinct cleavage site preferences compared to MMP13 and ADAMTS5; generates proteolytic biomarkers in synovial fluid
PMID: 39293776
3
Chymase inhibition prevents and resolves deep vein thrombosis by degrading plasmin without affecting bleeding time; mast cell chymase identified in human DVT
PMID: 36752268
4
Recombinant human chymase (CMA1) stimulates migration and proliferation of vascular smooth muscle cells and trophoblast cells; enhances endothelial tube formation during spiral artery remodeling
PMID: 35406722
5
High CMA1 expression in gastric cancer correlates with poor overall and progression-free survival; associates with infiltration of CD4+, CD8+ T cells, neutrophils, macrophages, and dendritic cells
PMID: 32129682
6
CMA1 is upregulated in endometriotic lesions; mast cells expressing CMA1 contribute to chronic pelvic inflammation in estrogen-dependent endometriosis
PMID: 36016927
7
CMA1+ mast cells are functional myeloid subsets with prognostic value in bladder cancer immune microenvironment
PMID: 40561775
Disease Associationsⓘ20
pernicious anemiaOpen Targets
0.17Weak
myocardial infarctionOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
dengue diseaseOpen Targets
0.10Weak
Dengue Hemorrhagic FeverOpen Targets
0.10Weak
triple-negative breast cancerOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Weak
non-alcoholic steatohepatitisOpen Targets
0.10Weak
melanomaOpen Targets
0.10Suggestive
acute myeloid leukemiaOpen Targets
0.10Suggestive
heart failureOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
Miyoshi myopathyOpen Targets
0.09Suggestive
anaphylaxisOpen Targets
0.09Suggestive
KeloidOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
FULACIMSTATPhase II
Chymase inhibitor
Related Genes
CPA3Protein interaction97%FYNProtein interaction95%AGTProtein interaction95%KITLGProtein interaction91%CPA4Protein interaction85%ACEProtein interaction85%
Tissue Expression6 tissues
Heart
100%
Liver
38%
Bone Marrow
23%
Lung
21%
Brain
6%
Ovary
4%
Gene Interaction Network
Click a node to explore
CMA1CPA3FYNAGTKITLGCPA4ACE
PROTEIN STRUCTURE
Preparing viewer…
PDB7H66 · 1.13 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.58LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.15 [0.84–1.58]
RankingsWhere CMA1 stands among ~20K protein-coding genes
  • #3,452of 20,598
    Most Researched134 · top quartile
  • #15,571of 17,882
    Most Constrained (LOEUF)1.58
Genes detectedCMA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
High-resolution transcriptome atlas of bladder cancer highlights the functional myeloid subsets in modulating immune microenvironment.
PMID: 40561775
EBioMedicine · 2025
1.00
2
Degradomics defines proteolysis information flow from human knee osteoarthritis cartilage to matched synovial fluid and the contributions of secreted proteases ADAMTS5, MMP13 and CMA1 to articular cartilage breakdown.
PMID: 39293776
Osteoarthritis Cartilage · 2025
0.90
3
Chymase gene (CMA1) polymorphisms in Dutch and Japanese sarcoidosis patients.
PMID: 16446531
Respiration · 2006
0.80
4
The human mast cell chymase gene (CMA1): mapping to the cathepsin G/granzyme gene cluster and lineage-restricted expression.
PMID: 8468056
Genomics · 1993
0.70
5
Insights into Early-Pregnancy Mechanisms: Mast Cells and Chymase CMA1 Shape the Phenotype and Modulate the Functionality of Human Trophoblast Cells, Vascular Smooth-Muscle Cells and Endothelial Cells.
PMID: 35406722
Cells · 2022
0.60