COL1A2 gene

URI: https://gptkb.org/entity/COL1A2_gene
GPTKB entity
Statements (25)
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
https://www.w3.org/2000/01/rdf-schema#label COL1A2 gene