Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
gptkb:gene |
| gptkbp:alternativeName |
Polyneuropathy, autosomal recessive, with impaired intellectual development
Sac3 |
| gptkbp:associatedWith |
gptkb:Amyotrophic_lateral_sclerosis
Charcot-Marie-Tooth disease type 4J Yunis-Varon syndrome |
| gptkbp:encodes |
Phosphoinositide phosphatase FIG4
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000139219
28998 |
| gptkbp:expressedIn |
gptkb:spinal_cord
brain |
| gptkbp:function |
phosphoinositide phosphatase activity
regulation of phosphatidylinositol 3,5-bisphosphate levels |
| gptkbp:HGNC_ID |
HGNC:14464
|
| https://www.w3.org/2000/01/rdf-schema#label |
FIG4
|
| gptkbp:interactsWith |
PIKFYVE
VAC14 |
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
|
| gptkbp:mutationAssociatedWith |
causes neurodegeneration
|
| gptkbp:OMIM |
609390
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Fig4
|
| gptkbp:orthologInYeast |
Sac3
|
| gptkbp:UniProtID |
Q92562
|
| gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:bfsLayer |
6
|