COL3A1 gene

URI: https://gptkb.org/entity/COL3A1_gene
GPTKB entity
Statements (27)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:Ehlers-Danlos_syndrome_type_IV_protein
gptkb:collagen_type_III_alpha_chain_precursor
gptkbp:associatedWith gptkb:vascular_Ehlers-Danlos_syndrome
gptkb:Ehlers-Danlos_syndrome_type_IV
gptkbp:encodes gptkb:collagen_type_III_alpha_1_chain
gptkbp:Entrez_Gene_ID 1281
gptkbp:expressedIn gptkb:skeletal_muscle
gptkbp:foundIn gptkb:Homo_sapiens
gptkbp:function structural component of extracellular matrix
gptkbp:geneType protein-coding
gptkbp:HGNC_ID gptkb:HGNC:2201
gptkbp:locatedOnChromosome gptkb:2q32.2
chromosome 2
gptkbp:mutationAssociatedWith intestinal perforation
arterial rupture
uterine rupture
gptkbp:OMIM 120180
gptkbp:orthologInMouse gptkb:Col3a1
gptkbp:product gptkb:collagen_alpha-1(III)_chain
gptkbp:UniProtID gptkb:P02461
gptkbp:bfsParent gptkb:vascular_Ehlers-Danlos_syndrome
gptkb:Ehlers-Danlos_syndrome_type_IV
gptkb:collagen_alpha-1(III)_chain
gptkb:collagen_type_III
gptkbp:bfsLayer 8
https://www.w3.org/2000/01/rdf-schema#label COL3A1 gene