Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:porencephaly
intracerebral hemorrhage basement membrane angiopathy |
| gptkbp:chromosomeArm |
gptkb:13q34
|
| gptkbp:encodes |
Collagen alpha-2(IV) chain
|
| gptkbp:Entrez_Gene_ID |
1284
ENSG00000134871 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
gptkb:kidney brain eye |
| gptkbp:foundIn |
extracellular matrix
|
| gptkbp:function |
angiogenesis
cell adhesion structural component of basement membranes |
| gptkbp:hasParalog |
gptkb:COL4A1_gene
|
| gptkbp:HGNC_ID |
2203
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL4A2 gene
|
| gptkbp:locatedOnChromosome |
13
|
| gptkbp:mutationAssociatedWith |
cerebral small vessel disease
familial porencephaly retinal arteriolar tortuosity |
| gptkbp:numberOfExons |
52
|
| gptkbp:OMIM |
120090
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
Col4a2 (mouse)
|
| gptkbp:partOf |
type IV collagen family
|
| gptkbp:product |
P08572
|
| gptkbp:UniProtID |
P08572
|
| gptkbp:bfsParent |
gptkb:Type_IV_collagen
gptkb:collagen_IV |
| gptkbp:bfsLayer |
7
|