COL1A2 gene

URI: https://gptkb.org/entity/COL1A2_gene

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alternativeName	gptkb:collagen_type_I_alpha-2_chain_gene
gptkbp:associatedWith	gptkb:Ehlers-Danlos_syndrome gptkb:Caffey_disease gptkb:Dermatosparaxis Osteogenesis imperfecta
gptkbp:encodes	gptkb:collagen_type_I_alpha_2_chain
gptkbp:Entrez_Gene_ID	gptkb:ENSG00000157554 1278
gptkbp:expressedIn	gptkb:skeletal_muscle
gptkbp:function	collagen biosynthesis
gptkbp:HGNC_ID	gptkb:HGNC:2194
gptkbp:locatedOnChromosome	gptkb:chromosome_7 7q21.3
gptkbp:mutationAssociatedWith	gptkb:collagen-related_disorders
gptkbp:OMIM	120160
gptkbp:orthologInMouse	gptkb:Col1a2
gptkbp:product	gptkb:pro-alpha2(I)_chain
gptkbp:proteinFamily	gptkb:collagen_gene_family
gptkbp:UniProtID	gptkb:P08123
gptkbp:bfsParent	gptkb:collagen_type_I_alpha_chain gptkb:Osteogenesis_Imperfecta_Type_II gptkb:Osteogenesis_imperfecta_type_II
gptkbp:bfsLayer	8
http://www.w3.org/2000/01/rdf-schema#label	COL1A2 gene