COL5A2 gene

URI: https://gptkb.org/entity/COL5A2_gene

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:associatedWith	gptkb:Ehlers-Danlos_syndrome
gptkbp:encodes	gptkb:collagen_alpha-2(V)_chain
gptkbp:Entrez_Gene_ID	1290
gptkbp:expressedIn	gptkb:skeletal_muscle
gptkbp:function	collagen fibril formation
gptkbp:hasTranscriptVariant	NM_000393.5
gptkbp:HGNC_ID	2215
gptkbp:locatedOnChromosome	gptkb:2q32.2 2
gptkbp:mutationAssociatedWith	gptkb:classical_Ehlers-Danlos_syndrome
gptkbp:OMIM	120190
gptkbp:organism	gptkb:Homo_sapiens
gptkbp:orthologInMouse	gptkb:Col5a2
gptkbp:product	gptkb:collagen_type_V_alpha_2_chain
gptkbp:UniProtID	P05997
gptkbp:bfsParent	gptkb:Ehlers-Danlos_syndrome,_classical_type gptkb:Ehlers-Danlos_syndrome,_type_II
gptkbp:bfsLayer	8
https://www.w3.org/2000/01/rdf-schema#label	COL5A2 gene