ADAMTS9
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 9
Gene Information Card
| Symbol | ADAMTS9 |
|---|---|
| Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p14.1 |
| NCBI Gene ID | 56999 ncbi.nlm.nih.gov/gene/56999 |
| Ensembl ID | ENSG00000163638 |
| UniProt ID | Q9P2N4 |
| OMIM ID | 606510 |
| HGNC ID | 220 |
| Aliases | ADAMTS-9, ADAMTS9L, MGC126518 |
Description
ADAMTS9 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of zinc-dependent proteases. The protein is involved in extracellular matrix remodeling, cleaving proteoglycans such as aggrecan and versican. It plays roles in development, angiogenesis, and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nonsyndromic cleft lip with or without cleft palate | Disruption of ADAMTS9 expression or function may impair craniofacial development; genetic variants associated with risk | OMIM, GWAS studies |
| Coronary artery disease | ADAMTS9 variants linked to altered extracellular matrix homeostasis in vessel walls | OMIM, GWAS studies |
| Osteoarthritis | ADAMTS9 contributes to aggrecan degradation in cartilage; overexpression may exacerbate disease | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Medium |
| Brain | 1.8 | Low |
| Heart | 3.1 | Medium |
| Kidney | 4.5 | Medium |
| Liver | 2.0 | Low |
| Lung | 6.7 | High |
| Muscle | 1.5 | Low |
| Pancreas | 3.8 | Medium |
| Placenta | 8.9 | High |
| Skin | 4.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 2.3 | Low expression |
| A549 | 5.1 | Medium expression |
| MCF7 | 3.6 | Medium expression |
| K562 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; predicted to cause nonsense-mediated decay |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; truncation of protein |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to premature stop codons, resulting in truncated, non-functional protein.
Gain of Function (GOF)
No gain-of-function mutations reported in ADAMTS9.
Dominant Negative (DN)
No dominant-negative mutations reported in ADAMTS9.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • extracellular matrix disassembly |
| • proteolysis | • angiogenesis |
| • cell migration |
Pathways
• Extracellular matrix organization
• Degradation of the extracellular matrix
• ADAMTS-mediated proteolysis
Protein Summary
ADAMTS9 is a secreted metalloprotease that cleaves extracellular matrix components, particularly aggrecan and versican. It contains a signal peptide, a prodomain, a catalytic domain with a zinc-binding motif, a disintegrin-like domain, and multiple thrombospondin type 1 repeats. The protein is involved in tissue morphogenesis, angiogenesis, and tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS9 Knockout HEK293 Cell Line | EDJ-KQ12281 | Human | 56999 | Details Get a Quote |
| ADAMTS9 Knockout HeLa Cell Line | EDJ-KQ56787 | Human | 56999 | Details Get a Quote |
| ADAMTS9 Knockout A-549 Cell Line | EDJ-KQ65291 | Human | 56999 | Details Get a Quote |
| ADAMTS9 Knockout HCT 116 Cell Line | EDJ-KQ73733 | Human | 56999 | Details Get a Quote |
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