Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
osteoarthritis
Kniest dysplasia (in human ortholog) Stickler syndrome (in human ortholog) chondrodysplasia |
| gptkbp:encodes |
type II collagen
|
| gptkbp:Entrez_Gene_ID |
12824
ENSMUSG00000024983 |
| gptkbp:expressedIn |
collagen
vitreous humor |
| gptkbp:fullName |
gptkb:collagen_type_II_alpha_1_chain
|
| gptkbp:function |
extracellular matrix structural constituent
major structural protein in cartilage |
| https://www.w3.org/2000/01/rdf-schema#label |
Col2a1
|
| gptkbp:locatedOnChromosome |
mouse chromosome 15
|
| gptkbp:mutationAssociatedWith |
skeletal abnormalities
|
| gptkbp:organism |
gptkb:Mus_musculus
|
| gptkbp:orthologIn |
COL2A1 (human)
|
| gptkbp:product |
gptkb:P08123
|
| gptkbp:RefSeq |
NM_031163
|
| gptkbp:bfsParent |
gptkb:COL2A1_gene
|
| gptkbp:bfsLayer |
7
|