Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Alport_syndrome
gptkb:COL4A4_gene gptkb:COL4A5_gene focal segmental glomerulosclerosis thin basement membrane nephropathy |
| gptkbp:discoveredBy |
Hudson BG et al.
|
| gptkbp:encodes |
collagen alpha-3(IV) chain
|
| gptkbp:Entrez_Gene_ID |
1285
|
| gptkbp:expressedIn |
gptkb:kidney
gptkb:cochlea eye |
| gptkbp:firstDescribed |
1990
|
| gptkbp:function |
structural component of basement membranes
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
2219
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL4A3 gene
|
| gptkbp:locatedOnChromosome |
2
2q36.3 |
| gptkbp:mutationAssociatedWith |
hereditary nephritis
|
| gptkbp:OMIM |
120070
|
| gptkbp:orthologInMouse |
Col4a3
|
| gptkbp:proteinFamily |
gptkb:collagen_type_IV_family
|
| gptkbp:UniProtID |
Q01955
|
| gptkbp:bfsParent |
gptkb:Type_IV_collagen
gptkb:collagen_IV |
| gptkbp:bfsLayer |
7
|