|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:PARK8
|
|
gptkbp:associatedWith
|
gptkb:Parkinson's_disease
|
|
gptkbp:discoveredIn
|
2004
|
|
gptkbp:encodes
|
gptkb:dardarin
|
|
gptkbp:Entrez_Gene_ID
|
120892
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
|
|
gptkbp:foundIn
|
gptkb:Mus_musculus
gptkb:Homo_sapiens
gptkb:Rattus_norvegicus
|
|
gptkbp:fullName
|
gptkb:leucine-rich_repeat_kinase_2
|
|
gptkbp:function
|
GTPase activity
kinase activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPolymorphism
|
gptkb:rs33939927
gptkb:rs34637584
gptkb:rs35801418
|
|
gptkbp:hasPseudogene
|
yes
|
|
gptkbp:HGNC_ID
|
18618
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LRRK2 gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:involvedIn
|
autophagy
cytoskeletal dynamics
neuronal signaling
|
|
gptkbp:length
|
2527 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12
|
|
gptkbp:mutationAssociatedWith
|
gptkb:G2019S
nonsense
missense
frameshift
R1441C
Y1699C
most common genetic cause of familial Parkinson's disease
|
|
gptkbp:OMIM
|
609007
|
|
gptkbp:orthologInMouse
|
Lrrk2
|
|
gptkbp:proteinFamily
|
gptkb:COR_domain
gptkb:Roc_domain
kinase domain
WD40 domain
leucine-rich repeat
|
|
gptkbp:regulates
|
inflammatory response
synaptic vesicle trafficking
|
|
gptkbp:studiedIn
|
neurodegeneration research
genetic testing for Parkinson's disease
|
|
gptkbp:targetOfDrug
|
gptkb:LRRK2_kinase_inhibitors
|
|
gptkbp:UniProtID
|
gptkb:Q5S007
|
|
gptkbp:bfsParent
|
gptkb:Parkinson_disease_(ORPHA:411)
|
|
gptkbp:bfsLayer
|
7
|