Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Alport_syndrome
focal segmental glomerulosclerosis thin basement membrane nephropathy |
| gptkbp:discoveredIn |
1994
|
| gptkbp:encodes |
collagen alpha-4(IV) chain
|
| gptkbp:Entrez_Gene_ID |
1286
|
| gptkbp:expressedIn |
gptkb:kidney
gptkb:cochlea eye |
| gptkbp:function |
forms part of basement membranes
|
| gptkbp:HGNC_ID |
2203
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL4A4 gene
|
| gptkbp:locatedOnChromosome |
chromosome 2
2q36.3 |
| gptkbp:mutationAssociatedWith |
hereditary nephritis
|
| gptkbp:OMIM |
120131
|
| gptkbp:orthologInMouse |
Col4a4
|
| gptkbp:product |
collagen type IV alpha 4 chain
|
| gptkbp:proteinFamily |
gptkb:collagen_type_IV_family
|
| gptkbp:UniProtID |
P53420
|
| gptkbp:bfsParent |
gptkb:Type_IV_collagen
gptkb:collagen_IV |
| gptkbp:bfsLayer |
7
|