ADAMTS2 gene

URI: https://gptkb.org/entity/ADAMTS2_gene
GPTKB entity
Statements (20)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:procollagen_I_N-proteinase
gptkbp:associatedWith dermatosparaxis
gptkbp:encodes gptkb:A_disintegrin_and_metalloproteinase_with_thrombospondin_motifs_2
gptkbp:Entrez_Gene_ID 9509
gptkbp:expressedIn gptkb:skeletal_muscle
gptkbp:function procollagen N-proteinase activity
gptkbp:HGNC_ID 218
https://www.w3.org/2000/01/rdf-schema#label ADAMTS2 gene
gptkbp:involvedIn collagen biosynthesis
gptkbp:locatedOnChromosome gptkb:5q35.3
gptkb:chromosome_5
gptkbp:mutationAssociatedWith gptkb:Ehlers-Danlos_syndrome_type_VIIC
gptkbp:OMIM 604539
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse gptkb:Adamts2
gptkbp:proteinFamily gptkb:ADAMTS_family
gptkbp:UniProtID O95450
gptkbp:bfsParent gptkb:Ehlers-Danlos_syndrome
gptkbp:bfsLayer 6