Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:MTMR13
|
| gptkbp:associatedWith |
Charcot-Marie-Tooth disease type 4B2
|
| gptkbp:discoveredIn |
1999
|
| gptkbp:encodes |
myotubularin-related protein 13
|
| gptkbp:Entrez_Gene_ID |
8723
ENSG00000110455 |
| gptkbp:expressedIn |
gptkb:nervous_system
|
| gptkbp:fullName |
SET binding factor 2
|
| gptkbp:function |
phosphatase activity
regulation of endosomal trafficking |
| https://www.w3.org/2000/01/rdf-schema#label |
SBF2
|
| gptkbp:interactsWith |
gptkb:MTMR2
|
| gptkbp:locatedOnChromosome |
chromosome 11
|
| gptkbp:mutationAssociatedWith |
peripheral neuropathy
|
| gptkbp:OMIM |
604563
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Mtmr13
|
| gptkbp:UniProtID |
Q86WG5
|
| gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:bfsLayer |
6
|