ADAMTS18
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 18
Gene Information Card
| Symbol | ADAMTS18 |
|---|---|
| Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 170691 ncbi.nlm.nih.gov/gene/170691 |
| Ensembl ID | ENSG00000140873 |
| UniProt ID | Q8TE58 |
| OMIM ID | 607512 |
| HGNC ID | 16609 |
| Aliases | ADAMTS-18, ADAMTS18A, ADAMTS18B |
Description
ADAMTS18 is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of secreted metalloproteinases. The gene encodes a protein that contains a signal peptide, a prodomain, a metalloproteinase domain, a disintegrin-like domain, and multiple thrombospondin type 1 repeats. ADAMTS18 is involved in extracellular matrix remodeling, cell adhesion, and migration. It has been implicated in various biological processes including development, hemostasis, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) | Loss-of-function mutations in ADAMTS18 disrupt extracellular matrix integrity in the eye, leading to developmental abnormalities. | OMIM #607512; PMID: 23505323 |
| Age-related macular degeneration (AMD) | ADAMTS18 variants may alter Bruch's membrane composition, contributing to drusen formation and retinal degeneration. | ClinVar; PMID: 24154662 |
| Osteoarthritis | Reduced ADAMTS18 expression in cartilage leads to impaired aggrecan cleavage and joint degeneration. | PMID: 24608428 |
| Various cancers (e.g., breast, lung, colorectal) | ADAMTS18 acts as a tumor suppressor; promoter hypermethylation and loss of expression promote tumor invasion and metastasis. | COSMIC; PMID: 19165232 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 0.8 | Low |
| Brain | 1.2 | Low |
| Breast | 0.5 | Low |
| Colon | 0.3 | Low |
| Heart | 0.6 | Low |
| Kidney | 0.4 | Low |
| Liver | 0.2 | Low |
| Lung | 0.7 | Low |
| Ovary | 1.5 | Low |
| Prostate | 0.9 | Low |
| Skin | 0.1 | Low |
| Testis | 2.3 | Low |
| Thyroid | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.5 | Low expression |
| HeLa | 0.2 | Low expression |
| MCF7 | 0.1 | Low expression |
| A549 | 0.3 | Low expression |
| HepG2 | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Ter) | Nonsense | Rare | Loss of function; associated with MMCAT |
| c.1456G>A (p.Gly486Arg) | Missense | Rare | Reduced protease activity; reported in AMD |
| c.2017_2018del (p.Leu673fs) | Frameshift | Rare | Loss of function; associated with MMCAT |
| c.2345T>C (p.Leu782Pro) | Missense | Rare | Unknown functional effect; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg375Ter, p.Leu673fs) result in truncated protein and loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ADAMTS18.
Dominant Negative (DN)
No dominant-negative mutations have been described for ADAMTS18.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • extracellular matrix organization (GO:0030198) |
| • cell adhesion (GO:0007155) | • proteolysis (GO:0006508) |
| • angiogenesis (GO:0001525) | • thrombospondin binding (GO:0031994) |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• ADAMTS-mediated cleavage of aggrecan (Reactome: R-HSA-2467813)
• Degradation of the extracellular matrix (Reactome: R-HSA-1474228)
Protein Summary
ADAMTS18 is a secreted metalloproteinase composed of 1225 amino acids. It contains a signal peptide (residues 1–22), a prodomain (23–206), a catalytic metalloproteinase domain (207–428) with a zinc-binding motif (HEXXHXXGXXH), a disintegrin-like domain (429–520), and seven thrombospondin type 1 repeats (521–1225). The protein is synthesized as a zymogen and activated by furin cleavage. ADAMTS18 cleaves extracellular matrix components such as aggrecan and versican, and modulates cell-matrix interactions. It is widely expressed at low levels in adult tissues, with highest expression in testis and ovary.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS18 Knockout HEK293 Cell Line | EDJ-KQ12208 | Human | 170692 | Details Get a Quote |
| ADAMTS18 Knockout HeLa Cell Line | EDJ-KQ58946 | Human | 170692 | Details Get a Quote |
| ADAMTS18 Knockout A-549 Cell Line | EDJ-KQ67434 | Human | 170692 | Details Get a Quote |
| ADAMTS18 Knockout HCT 116 Cell Line | EDJ-KQ75829 | Human | 170692 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
