ADAMTS5
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 5
Gene Information Card
| Symbol | ADAMTS5 |
|---|---|
| Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q21.3 |
| NCBI Gene ID | 11096 ncbi.nlm.nih.gov/gene/11096 |
| Ensembl ID | ENSG00000154736 |
| UniProt ID | Q9UNA0 |
| OMIM ID | 605007 |
| HGNC ID | 221 |
| Aliases | ADAMTS11, ADAM-TS5, ADAM-TS 5, aggrecanase-2 |
Description
ADAMTS5 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which functions as an aggrecanase to cleave aggrecan, a major proteoglycan of cartilage. This gene is implicated in osteoarthritis and other cartilage-degrading diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | ADAMTS5 is the major aggrecanase responsible for aggrecan degradation in articular cartilage, leading to joint destruction. | Multiple studies in knockout mouse models and human cartilage explants (PMID: 15791256, 16204249) |
| Rheumatoid Arthritis | Elevated ADAMTS5 expression in synovial fluid and cartilage contributes to proteoglycan loss and joint inflammation. | Expression analysis in human synovial tissue (PMID: 16914751) |
| Intervertebral Disc Degeneration | ADAMTS5-mediated aggrecan cleavage in disc tissue promotes degeneration. | Immunohistochemistry and mRNA analysis in human disc samples (PMID: 19164714) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 2.4 | Not detected |
| Lung | 4.7 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes | 15.2 | Primary human chondrocytes |
| SW1353 | 8.9 | Chondrosarcoma cell line |
| HEK293 | 1.2 | Low expression |
| HeLa | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1345G>A (p.Gly449Arg) | Missense | <0.01% | Unknown functional effect; rare variant |
| c.1972C>T (p.Arg658Trp) | Missense | <0.01% | Unknown functional effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ADAMTS5 are not well characterized in humans; however, knockout mice show reduced cartilage degradation in osteoarthritis models.
Gain of Function (GOF)
Gain-of-function mutations have not been reported for ADAMTS5.
Dominant Negative (DN)
No dominant negative mutations have been described for ADAMTS5.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • aggrecanase activity |
| • extracellular matrix disassembly | • proteolysis |
| • zinc ion binding | • extracellular space |
Pathways
• Degradation of the extracellular matrix
• Aggrecan degradation in osteoarthritis
Protein Summary
ADAMTS5 (aggrecanase-2) is a secreted metalloproteinase that specifically cleaves aggrecan at the Glu373-Ala374 bond, a key event in cartilage matrix turnover. The protein contains a signal peptide, a prodomain, a catalytic domain with a zinc-binding motif, a disintegrin-like domain, a central thrombospondin type 1 repeat, a cysteine-rich domain, and a spacer region. It is synthesized as a zymogen and activated by furin or other proprotein convertases. ADAMTS5 is the primary aggrecanase in human cartilage and a therapeutic target for osteoarthritis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS5 Knockout HEK293 Cell Line | EDJ-KQ3458 | Human | 11096 | Details Get a Quote |
| ADAMTS5 Knockout HeLa Cell Line | EDJ-KQ55570 | Human | 11096 | Details Get a Quote |
| ADAMTS5 Knockout A-549 Cell Line | EDJ-KQ64066 | Human | 11096 | Details Get a Quote |
| ADAMTS5 Knockout HCT 116 Cell Line | EDJ-KQ72516 | Human | 11096 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
