Entity Details

Primary name ADAMTS2
Entity type gene
Source Source Link

Details

PrimaryID9509
RefseqGeneNG_023212
SymbolADAMTS2
NameADAM metallopeptidase with thrombospondin type 1 motif 2
Chromosome5
Location5q35.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-04-16
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsATS2_HUMAN

GO terms

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GOName
GO:0004222 metalloendopeptidase activity
GO:0005576 extracellular region
GO:0007283 spermatogenesis
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
GO:0016485 protein processing
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030324 lung development
GO:0030574 collagen catabolic process
GO:0031012 extracellular matrix
GO:0043588 skin development
GO:0062023 collagen-containing extracellular matrix

Diseases

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Disease IDSourceNameDescription
225410 OMIMEhlers-Danlos syndrome, dermatosparaxis type (EDSDERMS)A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. The disease is caused by variants affecting the gene represented in this entry.