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ADAMTS2

ADAM metallopeptidase with thrombospondin type 1 motif 2
2 disorders 1 causative 1 untyped 5q35.3 gene with protein product
HGNC:218MonarchNCBI Gene 9509ENSG00000087116UniProt O95450OMIM 604539

Aliases: ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Dermatosparaxis Ehlers-Danlos Syndrome causative loss of function
mechanism: Biallelic ADAMTS2 Loss of Function
variant: In-frame exon-skipping genomic deletions (exons 3-5, exons 14-16)
dataset: geo:GSE343646
Ehlers-Danlos Syndrome untyped
Pathogenic Variants
scoped to subtype: Dermatosparaxis EDS

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.