COL5A3 gene

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeSplicing yes
gptkbp:associatedWith Ehlers-Danlos syndrome
gptkbp:biologicalProcess structural molecule activity
collagen fibril organization
gptkbp:discoveredIn 1998
gptkbp:encodes collagen alpha-3(V) chain
gptkbp:Entrez_Gene_ID 50509
ENSG00000167600
gptkbp:expressedIn gptkb:skeletal_muscle
gptkbp:fullName collagen type V alpha 3 chain
gptkbp:function component of type V collagen fibrils
gptkbp:HGNC_ID 2213
https://www.w3.org/2000/01/rdf-schema#label COL5A3 gene
gptkbp:locatedOnChromosome gptkb:chromosome_19
gptkbp:OMIM 120215
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Col5a3
gptkbp:RefSeq NM_015719
gptkbp:relatedTo extracellular matrix organization
gptkbp:UniProtID Q9Y2J8
gptkbp:bfsParent gptkb:Type_V_collagen
gptkbp:bfsLayer 7