COL3A1 gene

URI: https://gptkb.org/entity/COL3A1_gene

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alternativeName	gptkb:Ehlers-Danlos_syndrome_type_IV_protein gptkb:collagen_type_III_alpha_chain_precursor
gptkbp:associatedWith	gptkb:vascular_Ehlers-Danlos_syndrome gptkb:Ehlers-Danlos_syndrome_type_IV
gptkbp:encodes	gptkb:collagen_type_III_alpha_1_chain
gptkbp:Entrez_Gene_ID	1281
gptkbp:expressedIn	gptkb:skeletal_muscle
gptkbp:foundIn	gptkb:Homo_sapiens
gptkbp:function	structural component of extracellular matrix
gptkbp:geneType	protein-coding
gptkbp:HGNC_ID	gptkb:HGNC:2201
gptkbp:locatedOnChromosome	gptkb:2q32.2 chromosome 2
gptkbp:mutationAssociatedWith	intestinal perforation arterial rupture uterine rupture
gptkbp:OMIM	120180
gptkbp:orthologInMouse	gptkb:Col3a1
gptkbp:product	gptkb:collagen_alpha-1(III)_chain
gptkbp:UniProtID	gptkb:P02461
gptkbp:bfsParent	gptkb:vascular_Ehlers-Danlos_syndrome gptkb:Ehlers-Danlos_syndrome_type_IV gptkb:collagen_alpha-1(III)_chain gptkb:collagen_type_III
gptkbp:bfsLayer	8
https://www.w3.org/2000/01/rdf-schema#label	COL3A1 gene