ADAMTS8
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 8
Gene Information Card
| Symbol | ADAMTS8 |
|---|---|
| Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.3 |
| NCBI Gene ID | 11095 ncbi.nlm.nih.gov/gene/11095 |
| Ensembl ID | ENSG00000134917 |
| UniProt ID | Q9UP79 |
| OMIM ID | 605175 |
| HGNC ID | 219 |
| Aliases | METH2, ADAMTS-8 |
Description
ADAMTS8 (ADAM metallopeptidase with thrombospondin type 1 motif 8) 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 contains a signal peptide, a prodomain, a reprolysin-type metalloproteinase domain, a disintegrin-like domain, and two C-terminal thrombospondin type 1 (TSP1) repeats. This secreted protease is involved in extracellular matrix degradation and remodeling, and functions as an angiogenesis inhibitor. ADAMTS8 is expressed in various tissues, including heart, lung, and skeletal muscle, and has been implicated in cancer, asthma, and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | ADAMTS8 expression is upregulated in airway epithelial cells and smooth muscle, contributing to airway remodeling via extracellular matrix degradation. | ClinVar, NCBI Gene |
| Non-small cell lung cancer | ADAMTS8 promoter hypermethylation leads to gene silencing, associated with tumor progression and poor prognosis. | COSMIC, NCBI Gene |
| Breast cancer | ADAMTS8 acts as a tumor suppressor; loss of expression correlates with metastasis and reduced survival. | COSMIC, NCBI Gene |
| Osteoarthritis | ADAMTS8 may contribute to cartilage degradation through aggrecanase activity. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Skeletal muscle | 6.7 | Low |
| Kidney | 4.2 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 5.8 | Low expression |
| MCF7 (breast adenocarcinoma) | 2.3 | Very low expression |
| HEK 293 (embryonic kidney) | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; predicted to cause nonsense-mediated decay |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function; truncation of metalloproteinase domain |
| c.890A>G (p.Tyr297Cys) | Missense | Rare | Uncertain significance; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) result in truncated, non-functional protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • extracellular matrix disassembly |
| • angiogenesis | • proteolysis |
| • extracellular space | • zinc ion binding |
Pathways
• Extracellular matrix organization
• ADAMTS-mediated proteolysis
• Angiogenesis inhibition
Protein Summary
ADAMTS8 is a secreted metalloproteinase that degrades extracellular matrix components such as aggrecan and versican. It contains a signal peptide, prodomain, catalytic metalloproteinase domain, disintegrin-like domain, and two thrombospondin type 1 repeats. The protein inhibits angiogenesis and is involved in tissue remodeling. Dysregulation of ADAMTS8 is linked to cancer, asthma, and osteoarthritis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS8 Knockout HEK293 Cell Line | EDJ-KQ7282 | Human | 11095 | Details Get a Quote |
| ADAMTS8 Knockout HeLa Cell Line | EDJ-KQ32311 | Human | 11095 | Details Get a Quote |
| ADAMTS8 Knockout A-549 Cell Line | EDJ-KQ64065 | Human | 11095 | Details Get a Quote |
| ADAMTS8 Knockout HCT 116 Cell Line | EDJ-KQ72515 | Human | 11095 | Details Get a Quote |
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