Gene: LRRK2

Alternate names for this Gene: AURA17|DARDARIN|PARK8|RIPK7|ROCO2

Gene Summary: This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8.

Gene is located in Chromosome: 12

Location in Chromosome : 12q12

Description of this Gene: leucine rich repeat kinase 2

Type of Gene: protein-coding

rs7313895 in LRRK2 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs7313895 in LRRK2 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs148319899 in LRRK2 gene and Crohn Disease PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs148319899 in LRRK2 gene and Inflammatory Bowel Diseases PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs34637584 in LRRK2 gene and Movement Disorders PMID 17200152 2007 Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity.

PMID 25330418 2014 Disease penetrance of late-onset parkinsonism: a meta-analysis.

PMID 18213618 2008 Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.

PMID 24243757 2013 Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

PMID 28103901 2017 Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling.

PMID 16102999 2005 Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD.

PMID 15541309 2004 Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.

PMID 16157901 2005 LRRK2 gene in Parkinson disease: mutation analysis and case control association study.

rs111341148 in LRRK2 gene and PARKINSON DISEASE 8 (disorder) PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

PMID 15929036 2005 Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation.

PMID 15680457 2005 A common LRRK2 mutation in idiopathic Parkinson's disease.

PMID 15726496 2005 Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.

PMID 16272257 2005 The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.

PMID 15680455 2005 Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.

PMID 16240353 2005 G2019S LRRK2 mutation in French and North African families with Parkinson's disease.

PMID 15852371 2005 Clinical features of LRRK2-associated Parkinson's disease in central Norway.

PMID 15541309 2004 Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.

PMID 16298482 2006 LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease.

PMID 16250030 2006 Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics.

PMID 15732108 2005 Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

PMID 16157908 2005 LRRK2 mutations in Parkinson disease.

PMID 26824392 2016 Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases.

PMID 16333314 2006 Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.

PMID 16251215 2005 Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.

PMID 28720718 2017 Phosphorylation of amyloid precursor protein by mutant LRRK2 promotes AICD activity and neurotoxicity in Parkinson's disease.

PMID 16533964 2006 LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance.

PMID 29212815 2018 Rab29 activation of the Parkinson's disease-associated LRRK2 kinase.

PMID 22956510 2012 Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

PMID 28202711 2017 Structural interface between LRRK2 and 14-3-3 protein.

PMID 27111571 2016 The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.

PMID 21658387 2011 LRRK2 directly phosphorylates Akt1 as a possible physiological substrate: impairment of the kinase activity by Parkinson's disease-associated mutations.

PMID 16750377 2006 Kinase activity is required for the toxic effects of mutant LRRK2/dardarin.

PMID 21494637 2011 Dopaminergic neuronal loss, reduced neurite complexity and autophagic abnormalities in transgenic mice expressing G2019S mutant LRRK2.

PMID 23241745 2012 Ser1292 autophosphorylation is an indicator of LRRK2 kinase activity and contributes to the cellular effects of PD mutations.

PMID 21538529 2011 The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.

PMID 24565865 2014 Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations.

PMID 26251043 2015 Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression.

PMID 18986508 2008 The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.

PMID 22575234 2012 Quantitative assessment of the effect of LRRK2 exonic variants on the risk of Parkinson's disease: a meta-analysis.

rs33939927 in LRRK2 gene and PARKINSON DISEASE, LATE-ONSET PMID 27111571 2016 The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.

rs1491942 in LRRK2 gene and Parkinson Disease PMID 22438815 2012 Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

PMID 24842889 2014 Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.

PMID 22451204 2012 Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

PMID 21292315 2011 Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 21738487 2011 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

rs7313895 in LRRK2 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs7313895 in LRRK2 gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.