ADAMTS12
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 12
Gene Information Card
| Symbol | ADAMTS12 |
|---|---|
| Full Name | ADAM Metallopeptidase with Thrombospondin Type 1 Motif 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 81792 ncbi.nlm.nih.gov/gene/81792 |
| Ensembl ID | ENSG00000151388 |
| UniProt ID | P58397 |
| OMIM ID | 606184 |
| HGNC ID | 14605 |
| Aliases | ADAM-TS12, ADAMTS-12, MGC126516 |
Description
ADAMTS12 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of zinc-dependent 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 regulation of cell adhesion and migration. ADAMTS12 has been implicated in cancer, inflammatory diseases, and skeletal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | ADAMTS12 cleaves aggrecan and other cartilage matrix components, contributing to cartilage degradation. | PMID: 19240061 |
| Colorectal Cancer | ADAMTS12 expression is altered in colorectal tumors; may influence tumor progression through matrix remodeling. | PMID: 21573187 |
| Asthma | ADAMTS12 polymorphisms are associated with asthma susceptibility; involved in airway remodeling. | PMID: 17928217 |
| Rheumatoid Arthritis | ADAMTS12 is upregulated in synovial tissue and contributes to joint destruction. | PMID: 19240061 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Placenta | 10.2 | Medium |
| Kidney | 8.9 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
| Brain | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.3 | High expression |
| HEK 293 (embryonic kidney) | 9.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 4.2 | Low expression |
| MCF7 (breast adenocarcinoma) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.2567G>A (p.Gly856Asp) | Missense | <0.01% | Likely benign |
| c.3456_3457insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein are predicted to cause loss of proteolytic activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ADAMTS12.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • extracellular matrix organization |
| • proteolysis | • cell adhesion |
| • angiogenesis | • zinc ion binding |
Pathways
• ECM degradation (Reactome: R-HSA-1474228)
• ADAMTS-mediated cleavage of aggrecan (Reactome: R-HSA-2022090)
Protein Summary
ADAMTS12 is a secreted metalloproteinase that processes extracellular matrix components such as aggrecan and versican. It contains a catalytic domain with a zinc-binding motif and multiple thrombospondin type 1 repeats that mediate interactions with matrix components and cell surfaces. The enzyme is involved in tissue remodeling, inflammation, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS12 Knockout HEK293 Cell Line | EDJ-KQ3481 | Human | 81792 | Details Get a Quote |
| ADAMTS12 Knockout A-549 Cell Line | EDJ-KQ25253 | Human | 81792 | Details Get a Quote |
| ADAMTS12 Knockout HeLa Cell Line | EDJ-KQ57412 | Human | 81792 | Details Get a Quote |
| ADAMTS12 Knockout HCT 116 Cell Line | EDJ-KQ74345 | Human | 81792 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
