Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:cardiovascular_disease
gptkb:porencephaly intracerebral hemorrhage basement membrane |
| gptkbp:discoveredIn |
1986
|
| gptkbp:encodes |
collagen alpha-2(IV) chain
|
| gptkbp:Entrez_Gene_ID |
1284
ENSG00000134871 |
| gptkbp:expressedIn |
gptkb:kidney
brain eye |
| gptkbp:fullName |
collagen type IV alpha 2 chain
|
| gptkbp:function |
structural component of basement membranes
|
| gptkbp:HGNC_ID |
2203
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL4A2
|
| gptkbp:interactsWith |
gptkb:COL4A1
|
| gptkbp:locatedOnChromosome |
gptkb:13q34
13 |
| gptkbp:mutationAssociatedWith |
gptkb:hereditary_angiopathy_with_nephropathy,_aneurysms,_and_muscle_cramps_(HANAC)_syndrome
small vessel disease retinal arteriolar tortuosity |
| gptkbp:OMIM |
120090
|
| gptkbp:orthologIn |
Col4a2 (mouse)
|
| gptkbp:proteinFamily |
collagen family
|
| gptkbp:UniProtID |
P08572
|
| gptkbp:bfsParent |
gptkb:13q34
gptkb:COL4A1 |
| gptkbp:bfsLayer |
7
|