ADAMTS2
ADAM Metallopeptidase with Thrombospondin Type 1 Motif 2
Gene Information Card
| Symbol | ADAMTS2 |
|---|---|
| Full Name | ADAM Metallopeptidase with Thrombospondin Type 1 Motif 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 9509 ncbi.nlm.nih.gov/gene/9509 |
| Ensembl ID | ENSG00000187123 |
| UniProt ID | O95450 |
| OMIM ID | 604539 |
| HGNC ID | 219 |
| Aliases | ADAM-TS2, ADAMTS-2, NPI, PCINP, PCPNI, hPCPNI |
Description
The ADAMTS2 gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. This enzyme functions as a procollagen N-proteinase, cleaving the N-terminal propeptides of type I, II, and III procollagens, a critical step in collagen fibril assembly. Mutations in ADAMTS2 cause Ehlers-Danlos syndrome, dermatosparaxis type (EDS VIIC), characterized by skin fragility, joint laxity, and characteristic facial features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ehlers-Danlos syndrome, dermatosparaxis type | Loss-of-function mutations in ADAMTS2 impair cleavage of procollagen N-propeptides, leading to abnormal collagen fibril assembly and connective tissue fragility. | OMIM #225410; ClinVar; multiple case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Low |
| Heart | 6.1 | Low |
| Skeletal muscle | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblasts | 15.2 | Primary dermal fibroblasts |
| HUVEC | 9.8 | Endothelial cells |
| HeLa | 3.4 | Cervical carcinoma |
| A549 | 2.1 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1057C>T (p.Arg353*) | Nonsense | Rare | Premature stop, loss of function |
| c.2005G>A (p.Gly669Arg) | Missense | Rare | Impaired catalytic activity |
| c.2630_2631del (p.Leu877Profs*5) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations (nonsense, frameshift, splice-site) lead to loss of enzymatic activity, causing Ehlers-Danlos syndrome dermatosparaxis type.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • procollagen N-endopeptidase activity |
| • extracellular matrix organization | • collagen catabolic process |
| • zinc ion binding |
Pathways
• Collagen biosynthesis and modifying enzymes
• Degradation of the extracellular matrix
Protein Summary
ADAMTS2 is a secreted metalloproteinase that processes procollagen by removing N-terminal propeptides. It contains a signal peptide, a prodomain, a catalytic domain with a zinc-binding motif, a disintegrin-like domain, and thrombospondin type 1 repeats. The enzyme is essential for proper collagen fibrillogenesis and connective tissue integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTS2 Knockout HEK293 Cell Line | EDJ-KQ3934 | Human | 9509 | Details Get a Quote |
| ADAMTS20 Knockout HEK293 Cell Line | EDJ-KQ9444 | Human | 80070 | Details Get a Quote |
| ADAMTS2 Knockout HeLa Cell Line | EDJ-KQ26172 | Human | 9509 | Details Get a Quote |
| ADAMTS20 Knockout HeLa Cell Line | EDJ-KQ57285 | Human | 80070 | Details Get a Quote |
| ADAMTS2 Knockout A-549 Cell Line | EDJ-KQ63665 | Human | 9509 | Details Get a Quote |
| ADAMTS20 Knockout A-549 Cell Line | EDJ-KQ65796 | Human | 80070 | Details Get a Quote |
| ADAMTS2 Knockout HCT 116 Cell Line | EDJ-KQ72126 | Human | 9509 | Details Get a Quote |
| ADAMTS20 Knockout HCT 116 Cell Line | EDJ-KQ74218 | Human | 80070 | Details Get a Quote |
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