Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:chronic_granulomatous_disease
gptkb:Crohn's_disease |
| gptkbp:encodes |
p40phox protein
|
| gptkbp:Entrez_Gene_ID |
4689
ENSG00000165168 |
| gptkbp:expressedIn |
phagocytes
neutrophils |
| gptkbp:fullName |
neutrophil cytosolic factor 4
|
| gptkbp:function |
component of NADPH oxidase complex
involved in respiratory burst in phagocytes |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:7660
|
| gptkbp:interactsWith |
gptkb:CYBA
gptkb:NCF2 gptkb:CYBB RAC2 |
| gptkbp:locatedOnChromosome |
gptkb:22q13.1
chromosome 22 |
| gptkbp:mutationAssociatedWith |
impaired NADPH oxidase activity
|
| gptkbp:OMIM |
601488
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:product |
p40phox
|
| gptkbp:UniProtID |
Q15080
|
| gptkbp:bfsParent |
gptkb:Chronic_Granulomatous_Disease
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
NCF4
|