Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:atypical_hemolytic_uremic_syndrome
|
| gptkbp:biologicalProcess |
signal transduction
kinase activity lipid signaling |
| gptkbp:encodes |
diacylglycerol kinase epsilon protein
|
| gptkbp:Entrez_Gene_ID |
ENSG00000170248
8525 |
| gptkbp:expressedIn |
gptkb:kidney
endothelial cells |
| gptkbp:fullName |
diacylglycerol kinase epsilon
|
| gptkbp:function |
catalyzes phosphorylation of diacylglycerol to phosphatidic acid
|
| https://www.w3.org/2000/01/rdf-schema#label |
DGKE
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_17
17q22 |
| gptkbp:mutationAssociatedWith |
nephrotic syndrome
|
| gptkbp:OMIM |
601440
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
diacylglycerol kinase family
|
| gptkbp:UniProtID |
Q9Y6T7
|
| gptkbp:bfsParent |
gptkb:atypical_hemolytic_uremic_syndrome
|
| gptkbp:bfsLayer |
8
|