LRRK2 leucine rich repeat kinase 2
Gene ID: 120892, updated on 10-Apr-2024Gene type: protein coding
Also known as: PARK8; RIPK7; ROCO2; AURA17; DARDARIN
- See all available tests in GTR for this gene
- Go to complete Gene record for LRRK2
- Go to Variation Viewer for LRRK2 variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal dominant Parkinson disease 8 | See labs |
| Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. GeneReviews: Not available | |
| Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. GeneReviews: Not available | |
| Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. GeneReviews: Not available | |
| Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. GeneReviews: Not available | |
| Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. GeneReviews: Not available | |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. GeneReviews: Not available | |
| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. GeneReviews: Not available |
Genomic context
- Location:
- 12q12
- Sequence:
- Chromosome: 12; NC_000012.12 (40224997..40369285)
- Total number of exons:
- 53
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LRRK2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- Parkinson's disease Mutation Database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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