|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
COL6A3_HUMAN
collagen VI alpha-3 chain
|
|
gptkbp:associatedWith
|
gptkb:Bethlem_myopathy
gptkb:Ullrich_congenital_muscular_dystrophy
|
|
gptkbp:biologicalProcess
|
cell adhesion
extracellular matrix organization
structural molecule activity
|
|
gptkbp:discoveredIn
|
1990
|
|
gptkbp:encodes
|
collagen alpha-3(VI) chain
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000142173
1294
|
|
gptkbp:expressedIn
|
gptkb:skin
gptkb:skeletal_muscle
tendon
|
|
gptkbp:fullName
|
collagen type VI alpha 3 chain
|
|
gptkbp:function
|
extracellular matrix structural constituent
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:2212
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL6A3
|
|
gptkbp:length
|
3177 amino acids
|
|
gptkbp:locatedOnChromosome
|
2
2q37.3
|
|
gptkbp:mutationAssociatedWith
|
muscular dystrophy
|
|
gptkbp:numberOfExons
|
44
|
|
gptkbp:OMIM
|
120250
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Col6a3
|
|
gptkbp:proteinFamily
|
collagen family
|
|
gptkbp:UniProtID
|
Q14031
|
|
gptkbp:bfsParent
|
gptkb:COL6A1
|
|
gptkbp:bfsLayer
|
7
|