Entity Details

Primary name ADAMTS18
Entity type gene
Source Source Link

Details

PrimaryID170692
RefseqGeneNG_031879
SymbolADAMTS18
NameADAM metallopeptidase with thrombospondin type 1 motif 18
Chromosome16
Location16q23.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-02-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsATS18_HUMAN

GO terms

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GOName
GO:0001654 eye development
GO:0004222 metalloendopeptidase activity
GO:0005576 extracellular region
GO:0030198 extracellular matrix organization
GO:0031012 extracellular matrix
GO:0046872 metal ion binding
GO:0090331 negative regulation of platelet aggregation

Diseases

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Disease IDSourceNameDescription
615458 OMIMMicrocornea, myopic chorioretinal atrophy, and telecanthus (MMCAT)A ocular syndrome characterized by microcornea and myopic chorioretinal atrophy. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. In addition to ocular findings, some patients have telecanthus and posteriorly rotated ears. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
ADAMTS18SRPK2BioGRID26167880 details
ADAMTS18B3GLCTBioGRID, IntAct28514442 details
ADAMTS18HSPA5BioGRID, IntAct28514442 details
ADAMTS18ALBBioGRID, IntAct28514442 details