COL5A2 gene

URI: https://gptkb.org/entity/COL5A2_gene
GPTKB entity
Statements (20)
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