LRRK2 (leucine rich repeat kinase 2)

2006-10-01  

Identity

HGNC
LOCATION
12q12
LOCUSID
ALIAS
AURA17,DARDARIN,PARK8,RIPK7,ROCO2
FUSION GENES

Other Information

Locus ID:

NCBI: 120892
MIM: 609007
HGNC: 18618
Ensembl: ENSG00000188906

Variants:

dbSNP: 120892
ClinVar: 120892
TCGA: ENSG00000188906
COSMIC: LRRK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188906ENST00000298910Q5S007
ENSG00000188906ENST00000343742E9PC85
ENSG00000188906ENST00000416796C9JBF0
ENSG00000188906ENST00000430804H7C3B6
ENSG00000188906ENST00000636518A0A1B0GUQ3
ENSG00000188906ENST00000644108A0A2R8Y4F8

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Parkinson's diseaseKEGGhsa05012
Signal TransductionREACTOMER-HSA-162582
Signaling by PTK6REACTOMER-HSA-8848021
PTK6 promotes HIF1A stabilizationREACTOMER-HSA-8857538

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
155413092004Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.826
199155752009Genome-wide association study reveals genetic risk underlying Parkinson's disease.697
155413082004Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.678
199155762009Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.471
162695412005Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity.414
185395342008Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.400
185395342008Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.400
167503772006Kinase activity is required for the toxic effects of mutant LRRK2/dardarin.313
167503772006Kinase activity is required for the toxic effects of mutant LRRK2/dardarin.313
213625672011LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress.268

Citation

Dessen P

LRRK2 (leucine rich repeat kinase 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43339/lrrk2