ADAMTS18
Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:607512 Ensembl IDEnsembl:ENSG00000140873 HGNC IDHGNC:HGNC:17110 PHARMGKB IDPA24544 Map Location16q23.1 |
GO terms in ADAMTS18
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IEA | GO:0004222 | metalloendopeptidase activity |
MF | IEA | GO:0046872 | metal ion binding |
CC | IEA | GO:0005576 | extracellular region |
BP | IMP | GO:0001654 | eye development |
BP | IEA | GO:0006508 | proteolysis |
BP | IDA | GO:0090331 | negative regulation of platelet aggregation |
Gene expression in normal tissue: ADAMTS18
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ADAMTS18
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
reactome | R-HSA-1474244 | Extracellular matrix organization |
reactome | R-HSA-1643685 | Disease |
reactome | R-HSA-3781865 | Diseases of glycosylation |
reactome | R-HSA-3906995 | Diseases associated with O-glycosylation of proteins |
reactome | R-HSA-392499 | Metabolism of proteins |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in ADAMTS18
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |