ADAMTS20
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 20
Gene Information Card
| Symbol | ADAMTS20 |
|---|---|
| Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 20 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 80070 ncbi.nlm.nih.gov/gene/80070 |
| Ensembl ID | ENSG00000173166 |
| UniProt ID | P59510 |
| OMIM ID | 611681 |
| HGNC ID | 17178 |
| Aliases | ADAMTS-20, ADAMTS20L, MGC138207 |
Description
ADAMTS20 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of zinc-dependent proteases. The protein contains a signal peptide, a prodomain, a metalloproteinase domain, a disintegrin-like domain, and multiple thrombospondin type 1 repeats. It is involved in extracellular matrix remodeling, proteoglycan processing, and developmental processes such as palatogenesis and pigmentation. Mutations in ADAMTS20 are associated with cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect tumor microenvironment and metastasis | COSMIC, ClinVar |
| Developmental disorders (e.g., cleft palate) | Loss-of-function mutations impair extracellular matrix remodeling during development | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 8.2 | Low |
| Brain | 6.1 | Low |
| Lung | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Moderate expression |
| HeLa | 10.1 | Low expression |
| A549 | 7.6 | Low expression |
| MCF7 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons 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 organization |
| • proteolysis | • zinc ion binding |
| • integrin binding |
Pathways
• Extracellular matrix organization
• ADAMTS-mediated proteoglycan processing
Protein Summary
ADAMTS20 is a secreted metalloprotease that cleaves proteoglycans such as versican and aggrecan, playing a key role in extracellular matrix remodeling during development and tissue homeostasis. It is involved in cell adhesion, migration, and signaling. Mutations or dysregulation of ADAMTS20 are linked to cancer progression and congenital defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS20 Knockout HEK293 Cell Line | EDJ-KQ9444 | Human | 80070 | Details Get a Quote |
| ADAMTS20 Knockout HeLa Cell Line | EDJ-KQ57285 | Human | 80070 | Details Get a Quote |
| ADAMTS20 Knockout A-549 Cell Line | EDJ-KQ65796 | Human | 80070 | Details Get a Quote |
| ADAMTS20 Knockout HCT 116 Cell Line | EDJ-KQ74218 | Human | 80070 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
