ADAMTS16
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 16
Gene Information Card
| Symbol | ADAMTS16 |
|---|---|
| Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 16 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p15.32 |
| NCBI Gene ID | 170689 ncbi.nlm.nih.gov/gene/170689 |
| Ensembl ID | ENSG00000145675 |
| UniProt ID | Q8TE57 |
| OMIM ID | 607510 |
| HGNC ID | 17162 |
| Aliases | ADAMTS16, ADAMTS-16, ADAMTS16A, ADAMTS16B |
Description
ADAMTS16 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of zinc-dependent metalloproteinases. The protein is involved in extracellular matrix remodeling, proteoglycan cleavage, and cell adhesion. It is expressed in various tissues and has been implicated in cardiovascular, renal, and reproductive functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | ADAMTS16 may contribute to cartilage degradation via aggrecanase activity, though direct evidence is limited. | ClinVar, NCBI Gene |
| Hypertension | Genetic variants in ADAMTS16 have been associated with blood pressure regulation in genome-wide association studies. | OMIM, NCBI Gene |
| Renal fibrosis | Upregulation of ADAMTS16 in kidney tissues may promote fibrotic remodeling. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Heart | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.2 | Low expression |
| A549 | 5.8 | Moderate expression |
| HepG2 | 1.5 | Not detected |
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; predicted to cause nonsense-mediated decay |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; truncation of protein |
| c.890A>G (p.Asn297Ser) | Missense | 0.2% | Unknown; possibly benign |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to premature stop codons and likely loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ADAMTS16.
Dominant Negative (DN)
No dominant-negative mutations have been described for ADAMTS16.
View complete mutation data:
Gene Ontology (GO)
| • metalloendopeptidase activity | • extracellular matrix organization |
| • proteolysis | • zinc ion binding |
| • integrin binding |
Pathways
• Extracellular matrix organization
• Degradation of the extracellular matrix
• ADAMTS-mediated proteoglycan cleavage
Protein Summary
ADAMTS16 is a secreted zinc-dependent metalloproteinase that cleaves proteoglycans such as aggrecan and versican. It contains a signal peptide, a prodomain, a catalytic domain with a zinc-binding motif, a disintegrin-like domain, a central thrombospondin type 1 repeat, and a C-terminal region with additional thrombospondin repeats. The protein is involved in extracellular matrix turnover and cell-matrix interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS16 Knockout HEK293 Cell Line | EDJ-KQ12282 | Human | 170690 | Details Get a Quote |
| ADAMTS16 Knockout HeLa Cell Line | EDJ-KQ41087 | Human | 170690 | Details Get a Quote |
| ADAMTS16 Knockout A-549 Cell Line | EDJ-KQ67432 | Human | 170690 | Details Get a Quote |
| ADAMTS16 Knockout HCT 116 Cell Line | EDJ-KQ75828 | Human | 170690 | Details Get a Quote |
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