|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:collagen_type_I_alpha-2_chain_gene
|
|
gptkbp:associatedWith
|
gptkb:Caffey_disease
gptkb:Dermatosparaxis
Ehlers-Danlos syndrome
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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL1A2 gene
|
|
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:Ehlers-Danlos_syndrome
gptkb:collagen
|
|
gptkbp:bfsLayer
|
6
|