LRRK2 (leucine rich repeat kinase 2)

2006-10-01  

Identity

HGNC
LRRK2
LOCATION
12q12
LOCUSID
120892
ALIAS
AURA17,DARDARIN,PARK8,RIPK7,ROCO2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376740362024A Complex Interplay of DJ-1, LRRK2, and Nrf2 in the Regulation of Mitochondrial Function in Cypermethrin-Induced Parkinsonism.0
381359002024Targeting Rab-RILPL interactions as a strategy to downregulate pathogenic LRRK2 in Parkinson's disease.0
382272902024The V-ATPase-ATG16L1 axis recruits LRRK2 to facilitate the lysosomal stress response.2
382660622024Comprehensive analysis of clinical and biological features in Parkinson's disease associated with the LRRK2 G2019S mutation: Data from the PPMI study.0
382878612024The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene.0
383070242024The LRRK2 kinase substrates RAB8a and RAB10 contribute complementary but distinct disease-relevant phenotypes in human neurons.0
383689302024VPS35 and retromer dysfunction in Parkinson's disease.1
385120272024RAB3 phosphorylation by pathogenic LRRK2 impairs trafficking of synaptic vesicle precursors.1
385990012024Multi-tracer PET correlation analysis reveals disease-specific patterns in Parkinson's disease and asymptomatic LRRK2 pathogenic variant carriers compared to healthy controls.0
388046042024Genetic analysis and natural history of Parkinson's disease due to the LRRK2 G2019S variant.0
376740362024A Complex Interplay of DJ-1, LRRK2, and Nrf2 in the Regulation of Mitochondrial Function in Cypermethrin-Induced Parkinsonism.0
381359002024Targeting Rab-RILPL interactions as a strategy to downregulate pathogenic LRRK2 in Parkinson's disease.0
382272902024The V-ATPase-ATG16L1 axis recruits LRRK2 to facilitate the lysosomal stress response.2
382660622024Comprehensive analysis of clinical and biological features in Parkinson's disease associated with the LRRK2 G2019S mutation: Data from the PPMI study.0
382878612024The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene.0

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-(leucine-rich-repeat-kinase-2)