ADAMTS6
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 6
Gene Information Card
| Symbol | ADAMTS6 |
|---|---|
| Full Name | ADAM Metallopeptidase with Thrombospondin Type 1 Motif 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q12.3 |
| NCBI Gene ID | 11174 ncbi.nlm.nih.gov/gene/11174 |
| Ensembl ID | ENSG00000149196 |
| UniProt ID | Q9UKP5 |
| OMIM ID | 605008 |
| HGNC ID | 220 |
| Aliases | ADAM-TS6, ADAMTS-6 |
Description
ADAMTS6 encodes a member of the ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin Motifs) family of secreted metalloproteinases. 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 cleavage, and cell adhesion. ADAMTS6 is expressed in various tissues and has been implicated in developmental processes and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect tumor microenvironment and ECM remodeling | COSMIC; literature |
| Osteoarthritis | Potential role in cartilage matrix degradation | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Placenta | 8.2 | Low |
| Lung | 6.1 | Low |
| Heart | 4.3 | Low |
| Brain | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 5.0 | Hepatocellular carcinoma |
| A549 | 3.2 | Lung carcinoma |
| MCF7 | 2.1 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Unknown functional impact |
| c.567delC | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
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 | • cell adhesion |
| • thrombospondin type 1 domain |
Pathways
• Extracellular matrix organization
• ADAMTS-mediated proteoglycan cleavage
Protein Summary
ADAMTS6 is a secreted metalloproteinase that cleaves extracellular matrix components such as proteoglycans. It contains a zinc-dependent catalytic domain and thrombospondin repeats that mediate substrate recognition and localization. The protein is involved in tissue remodeling, cell migration, and adhesion. Dysregulation of ADAMTS6 has been associated with cancer progression and osteoarthritis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS6 Knockout HEK293 Cell Line | EDJ-KQ7317 | Human | 11174 | Details Get a Quote |
| ADAMTS6 Knockout HeLa Cell Line | EDJ-KQ32380 | Human | 11174 | Details Get a Quote |
| ADAMTS6 Knockout A-549 Cell Line | EDJ-KQ64089 | Human | 11174 | Details Get a Quote |
| ADAMTS6 Knockout HCT 116 Cell Line | EDJ-KQ72540 | Human | 11174 | Details Get a Quote |
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