Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
alpha-actinin-4
|
| gptkbp:associatedWith |
focal segmental glomerulosclerosis
|
| gptkbp:discoveredIn |
1999
|
| gptkbp:encodes |
actinin alpha 4
|
| gptkbp:Entrez_Gene_ID |
81
ENSG00000151694 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
gptkb:kidney |
| gptkbp:function |
cytoskeletal organization
actin binding |
| gptkbp:gene |
gptkb:ACTN4
|
| gptkbp:HGNC_ID |
HGNC:164
|
| https://www.w3.org/2000/01/rdf-schema#label |
604638 (ACTN4)
|
| gptkbp:locatedOnChromosome |
19
|
| gptkbp:location |
19q13.2
|
| gptkbp:mutationAssociatedWith |
nephrotic syndrome
|
| gptkbp:OMIM |
604638
|
| gptkbp:proteinFamily |
alpha-actinin family
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
O43707
|
| gptkbp:bfsParent |
gptkb:alpha-actinin
|
| gptkbp:bfsLayer |
8
|