|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alias
|
gptkb:PARK8
gptkb:dardarin
|
|
gptkbp:associatedWith
|
gptkb:Parkinson's_disease
|
|
gptkbp:discoveredBy
|
gptkb:Paisán-Ruiz_et_al.
|
|
gptkbp:discoveredIn
|
2004
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:LRRK2
gptkb:ENSG00000188906
120892
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:skeletal_muscle
gptkb:kidney
gptkb:placenta
gptkb:prostate
gptkb:small_intestine
gptkb:testis
gptkb:thymus
brain
heart
liver
spleen
colon
pancreas
peripheral blood leukocytes
|
|
gptkbp:fullName
|
gptkb:leucine-rich_repeat_kinase_2
|
|
gptkbp:function
|
GTPase activity
kinase activity
|
|
gptkbp:HGNC_ID
|
18618
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LRRK2
|
|
gptkbp:inhibitedBy
|
gptkb:DNL201
gptkb:MLi-2
gptkb:PF-06447475
|
|
gptkbp:KEGGID
|
hsa:120892
|
|
gptkbp:locatedOnChromosome
|
12
|
|
gptkbp:location
|
12q12
|
|
gptkbp:molecularWeight
|
~286 kDa
|
|
gptkbp:Mouse_Genome_Informatics_ID
|
MGI:2442292
|
|
gptkbp:mutationAssociatedWith
|
gptkb:G2019S
gptkb:M1869T
gptkb:N1437H
gptkb:sporadic_Parkinson's_disease
gptkb:familial_Parkinson's_disease
A419V
E1874Stop
G2385R
G472R
I1122V
I1371V
I2020T
L1114L
L1795F
N2081D
P755L
Q930R
R1067Q
R1067W
R1325Q
R1325W
R1398H
R1441C
R1441G
R1441H
R1514Q
R1628P
R793M
S1647T
T2356I
Y1699C
|
|
gptkbp:OMIM
|
609007
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Drosophila_Lrrk
gptkb:mouse_Lrrk2
|
|
gptkbp:PDB
|
gptkb:6VP6
7LI4
|
|
gptkbp:phosphorylates
|
gptkb:Rab_GTPases
|
|
gptkbp:protein_domains
|
gptkb:COR_(C-terminal_of_Roc)
gptkb:Roc_(Ras_of_complex_proteins)
kinase domain
WD40 domain
leucine-rich repeat
|
|
gptkbp:Reactome
|
R-HSA-9679506
|
|
gptkbp:UniProtID
|
gptkb:Q5S007
|
|
gptkbp:bfsParent
|
gptkb:chromosome_12
|
|
gptkbp:bfsLayer
|
6
|