Statements (25)
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL3A1 gene
|
| 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:Ehlers-Danlos_syndrome
gptkb:collagen |
| gptkbp:bfsLayer |
6
|