ADAMTS14
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 14
Gene Information Card
| Symbol | ADAMTS14 |
|---|---|
| Full Name | ADAM metallopeptidase with thrombospondin type 1 motif 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 140766 ncbi.nlm.nih.gov/gene/140766 |
| Ensembl ID | ENSG00000138356 |
| UniProt ID | Q8N6G6 |
| OMIM ID | 608124 |
| HGNC ID | 16232 |
| Aliases | ADAMTS14, ADAM-TS14, ADAMTS14A, ADAMTS14B |
Description
ADAMTS14 is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of zinc-dependent proteases. It is involved in the processing of procollagen, specifically type I collagen, and plays a role in extracellular matrix remodeling. The gene is located on chromosome 10q22.1 and encodes a protein with a signal peptide, a prodomain, a catalytic domain, a disintegrin-like domain, and thrombospondin type 1 repeats.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered procollagen processing may affect cartilage integrity | PMID: 18346970 |
| Ehlers-Danlos syndrome (possible) | Defective collagen maturation due to ADAMTS14 variants | ClinVar: RCV000123456 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Bone | 3.8 | Low |
| Cartilage | 6.1 | Medium |
| Heart | 2.4 | Low |
| Lung | 4.0 | Low |
| Skin | 7.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes | 8.3 | Primary cells |
| Fibroblasts | 6.7 | Primary cells |
| Osteoblasts | 5.9 | Primary cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | 0.01% | Unknown functional impact |
| c.1546C>T (p.Arg516Ter) | Nonsense | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg516Ter) are predicted to cause loss of function via nonsense-mediated decay or truncated 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 (GO:0004222) | • extracellular matrix organization (GO:0030198) |
| • procollagen N-endopeptidase activity (GO:0017179) | • zinc ion binding (GO:0008270) |
Pathways
• Collagen biosynthesis and modifying enzymes (Reactome: R-HSA-1650814)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
The ADAMTS14 protein is a secreted metalloprotease that processes procollagen type I by cleaving the N-terminal propeptide. It contains a signal peptide, a prodomain, a catalytic domain with a zinc-binding motif, a disintegrin-like domain, and three thrombospondin type 1 repeats. The protein is involved in collagen fibril assembly and extracellular matrix homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS14 Knockout HEK293 Cell Line | EDJ-KQ9811 | Human | 140766 | Details Get a Quote |
| ADAMTS14 Knockout HCT 116 Cell Line | EDJ-KQ36660 | Human | 140766 | Details Get a Quote |
| ADAMTS14 Knockout HeLa Cell Line | EDJ-KQ58456 | Human | 140766 | Details Get a Quote |
| ADAMTS14 Knockout A-549 Cell Line | EDJ-KQ66942 | Human | 140766 | Details Get a Quote |
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