Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:LRRK2
|
| gptkbp:associatedWith |
gptkb:Parkinson's_disease
|
| gptkbp:biologicalProcess |
GTPase activity
kinase activity |
| gptkbp:discoveredIn |
2004
|
| gptkbp:encodes |
gptkb:leucine-rich_repeat_kinase_2
|
| gptkbp:Entrez_Gene_ID |
120892
|
| gptkbp:expressedIn |
gptkb:cancer
gptkb:kidney brain |
| gptkbp:HGNC_ID |
18618
|
| https://www.w3.org/2000/01/rdf-schema#label |
PARK8
|
| gptkbp:involvedIn |
autophagy
cytoskeletal dynamics neuronal signaling |
| gptkbp:locatedOnChromosome |
12
|
| gptkbp:mostCommonMutation |
gptkb:G2019S
R1441C Y1699C |
| gptkbp:mutationAssociatedWith |
gptkb:autosomal_dominant_Parkinson's_disease
nonsense missense higher in Ashkenazi Jewish population frameshift higher in North African Arab population |
| gptkbp:OMIM |
609007
|
| gptkbp:orthologInMouse |
Lrrk2
|
| gptkbp:UniProtID |
gptkb:Q5S007
|
| gptkbp:bfsParent |
gptkb:LRRK2
|
| gptkbp:bfsLayer |
7
|