ADAMTS7
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 7
Gene Information Card
| Symbol | ADAMTS7 |
|---|---|
| Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q25.2 |
| NCBI Gene ID | 11173 ncbi.nlm.nih.gov/gene/11173 |
| Ensembl ID | ENSG00000136378 |
| UniProt ID | Q9UKP4 |
| OMIM ID | 605009 |
| HGNC ID | 222 |
| Aliases | ADAMTS-7, COMPase, METH-2 |
Description
ADAMTS7 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of zinc-dependent proteases. The protein cleaves cartilage oligomeric matrix protein (COMP) and other extracellular matrix components, playing roles in cartilage development, vascular remodeling, and inflammation. Genome-wide association studies have linked ADAMTS7 variants to coronary artery disease risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coronary artery disease | Risk variant rs3825807 (A>G) leads to a Ser214Pro substitution, reducing proteolytic activity and altering vascular smooth muscle cell migration. | GWAS (multiple studies, e.g., Schunkert et al. 2011, Nature Genetics) |
| Osteoarthritis | ADAMTS7 degrades COMP in cartilage; altered expression may contribute to cartilage degradation. | Expression studies (e.g., Liu et al. 2006, Arthritis Rheum) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Artery | 12.3 | Medium |
| Heart | 8.7 | Medium |
| Cartilage | 15.1 | High |
| Lung | 6.2 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 10.5 | Endothelial cells |
| Aortic smooth muscle cells | 14.2 | Vascular smooth muscle |
| Chondrocytes | 18.0 | Cartilage cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3825807 (Ser214Pro) | missense | ~45% in European populations | Reduced proteolytic activity; associated with coronary artery disease |
| rs7173743 (intronic) | intron variant | ~35% in East Asian populations | Associated with coronary artery disease risk |
Mutation functional classification
Loss of Function (LOF)
rs3825807 (Ser214Pro) reduces catalytic activity toward COMP and other substrates.
Gain of Function (GOF)
None reported in curated databases.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • extracellular matrix organization (GO:0030198) |
| • proteolysis (GO:0006508) | • zinc ion binding (GO:0008270) |
| • extracellular space (GO:0005615) |
Pathways
• ECM proteolysis (Reactome: R-HSA-1474228)
• Degradation of the extracellular matrix (Reactome: R-HSA-1474229)
Protein Summary
ADAMTS7 is a secreted metalloprotease composed of a signal peptide, a prodomain, a catalytic domain with a zinc-binding motif, a disintegrin-like domain, and multiple thrombospondin type 1 repeats. It processes extracellular matrix proteins such as COMP and versican, influencing cell adhesion, migration, and tissue remodeling. The protein is implicated in vascular disease and cartilage homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS7 Knockout HEK293 Cell Line | EDJ-KQ7316 | Human | 11173 | Details Get a Quote |
| ADAMTS7 Knockout A-549 Cell Line | EDJ-KQ32377 | Human | 11173 | Details Get a Quote |
| ADAMTS7 Knockout HCT 116 Cell Line | EDJ-KQ32378 | Human | 11173 | Details Get a Quote |
| ADAMTS7 Knockout HeLa Cell Line | EDJ-KQ32379 | Human | 11173 | Details Get a Quote |
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