Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Alport_syndrome
Diffuse Leiomyomatosis |
| gptkbp:encodes |
collagen alpha-6(IV) chain
|
| gptkbp:Entrez_Gene_ID |
1288
ENSG00000187876 |
| gptkbp:expressedIn |
gptkb:kidney
eye inner ear |
| gptkbp:function |
basement membrane structural component
|
| gptkbp:hasGeneCardsID |
COL4A6
|
| gptkbp:hasRefSeqID |
NM_001845
|
| gptkbp:HGNC_ID |
2216
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL4A6 gene
|
| gptkbp:locatedOnChromosome |
X
|
| gptkbp:memberOf |
collagen type IV alpha chain family
|
| gptkbp:mutationAssociatedWith |
kidney disease
hearing loss ocular abnormalities |
| gptkbp:OMIM |
303631
|
| gptkbp:orthologInMouse |
Col4a6
|
| gptkbp:PDB |
6FZV
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
Q14031
|
| gptkbp:bfsParent |
gptkb:Type_IV_collagen
gptkb:collagen_IV |
| gptkbp:bfsLayer |
7
|