ADAMTS2
Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:604539 Ensembl IDEnsembl:ENSG00000087116 HGNC IDHGNC:HGNC:218 PHARMGKB IDPA24546 Map Location5q35.3 | |||||
GO terms in ADAMTS2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | IEA | GO:0016485 | protein processing |
| BP | IEA | GO:0030199 | collagen fibril organization |
| BP | IEA | GO:0030324 | lung development |
| BP | IEA | GO:0030574 | collagen catabolic process |
| BP | IEA | GO:0043588 | skin development |
Gene expression in normal tissue: ADAMTS2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ADAMTS2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474290 | Collagen formation |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-1650814 | Collagen biosynthesis and modifying enzymes |
| reactome | R-HSA-3781865 | Diseases of glycosylation |
| reactome | R-HSA-3906995 | Diseases associated with O-glycosylation of proteins |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ADAMTS2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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