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    LRRK2 leucine rich repeat kinase 2 [ Homo sapiens (human) ]

    Gene ID: 120892, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LRRK2provided by HGNC
    Official Full Name
    leucine rich repeat kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:18618
    See related
    Ensembl:ENSG00000188906 MIM:609007; AllianceGenome:HGNC:18618
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PARK8; RIPK7; ROCO2; AURA17; DARDARIN
    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]
    Expression
    Broad expression in lung (RPKM 31.3), appendix (RPKM 7.6) and 15 other tissues See more
    Orthologs
    mouse all
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    Try the new Gene table
    Try the new Transcript table

    Genomic context

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    See LRRK2 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (40224997..40369285)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (40177355..40321422)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (40618799..40763087)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene LRRK2 divergent transcript Neighboring gene uncharacterized LOC105369735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6207 Neighboring gene long intergenic non-protein coding RNA 1779 Neighboring gene uncharacterized LOC105369736 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28494 Neighboring gene mucin 19, oligomeric (gene/pseudogene) Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:40868238-40869437 Neighboring gene microtubule associated protein 6 pseudogene Neighboring gene MPRA-validated peak1679 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr12:40912063-40912564 Neighboring gene RNA, U6 small nuclear 713, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation. Lorenzo-Betancor O, et al. Mov Disord, 2012 Jan. PMID 22038903
    2. [Clinical features of LRRK2-associated Parkinson's disease]. Pchelina SN, et al. Zh Nevrol Psikhiatr Im S S Korsakova, 2011. PMID 22433811
    3. Genetic analysis of LRRK2 A419V variant in ethnic Chinese. Li NN, et al. Neurobiol Aging, 2012 Aug. PMID 22418733
    4. Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe. Rubio JP, et al. Hum Mutat, 2012 Jul. PMID 22415848, Free PMC Article
    5. Leucine-rich repeat kinase 2 for beginners: six key questions. Kett LR, et al. Cold Spring Harb Perspect Med, 2012 Mar. PMID 22393539, Free PMC Article

    See all (1106) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Occupational Pesticide Exposure in Parkinson's Disease Related to GBA and LRRK2 Variants.
      Title: Occupational Pesticide Exposure in Parkinson's Disease Related to GBA and LRRK2 Variants.
    2. CASM mediates LRRK2 recruitment and activation under lysosomal stress.
      Title: CASM mediates LRRK2 recruitment and activation under lysosomal stress.
    3. LRRK2 regulates production of reactive oxygen species in cell and animal models of Parkinson's disease.
      Title: LRRK2 regulates production of reactive oxygen species in cell and animal models of Parkinson's disease.
    4. Clinical characteristics and pathophysiological properties of newly discovered LRRK2 variants associated with Parkinson's disease.
      Title: Clinical characteristics and pathophysiological properties of newly discovered LRRK2 variants associated with Parkinson's disease.
    5. Sex-dependent interactions between prodromal intestinal inflammation and LRRK2 G2019S in mice promote endophenotypes of Parkinson's disease.
      Title: Sex-dependent interactions between prodromal intestinal inflammation and LRRK2 G2019S in mice promote endophenotypes of Parkinson's disease.
    6. The Evolution of Genetic Variability at the LRRK2 Locus.
      Title: The Evolution of Genetic Variability at the LRRK2 Locus.
    7. Genetic analysis and natural history of Parkinson's disease due to the LRRK2 G2019S variant.
      Title: Genetic analysis and natural history of Parkinson's disease due to the LRRK2 G2019S variant.
    8. Multi-tracer PET correlation analysis reveals disease-specific patterns in Parkinson's disease and asymptomatic LRRK2 pathogenic variant carriers compared to healthy controls.
      Title: Multi-tracer PET correlation analysis reveals disease-specific patterns in Parkinson's disease and asymptomatic LRRK2 pathogenic variant carriers compared to healthy controls.
    9. Targeting Rab-RILPL interactions as a strategy to downregulate pathogenic LRRK2 in Parkinson's disease.
      Title: Targeting Rab-RILPL interactions as a strategy to downregulate pathogenic LRRK2 in Parkinson's disease.
    10. RAB3 phosphorylation by pathogenic LRRK2 impairs trafficking of synaptic vesicle precursors.
      Title: RAB3 phosphorylation by pathogenic LRRK2 impairs trafficking of synaptic vesicle precursors.
    Submit: New GeneRIF Correction See all GeneRIFs (988)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal dominant Parkinson disease 8
    MedGen: C1846862 OMIM: 607060 GeneReviews: LRRK2 Parkinson Disease, Parkinson Disease Overview
    		not available

    EBI GWAS Catalog

    Description
    Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
    EBI GWAS Catalog
    Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
    EBI GWAS Catalog
    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    EBI GWAS Catalog
    Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
    EBI GWAS Catalog
    Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat LRRK2 kinase inhibition decreases HIV-1 Tat-induced phosphorylation of p38 MAPK and JNK in microglia cells PubMed
    tat HIV-1 Tat induces phosphorylation of LRRK2 in microglia cells PubMed
    tat LRRK2 is involved in HIV-1 Tat-induced cytokine TNF-alpha, IL-6, and MCP-1 expression in microglia cells PubMed
    tat LRRK2 kinase inhibition suppresses HIV-1 Tat-induced upregulation of phosphatidylserine receptor BAI1 in microglia cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables AMP-activated protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTP binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables GTP-dependent protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTP-dependent protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables JUN kinase kinase kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables JUN kinase kinase kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables MAP kinase kinase kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables Rho-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables SNARE binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables actin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables beta-catenin destruction complex binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables clathrin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables co-receptor binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables eukaryotic translation initiation factor 2alpha kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS121 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AT120 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AXS139 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2BS14 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2BS36 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3S10 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3S28 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3S57 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T11 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T3 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T45 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H4S1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables magnesium ion binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables membrane scission GTPase motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables peroxidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase A binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables ribosomal protein S6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables signaling receptor complex adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables syntaxin-1 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GTP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in JNK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in Rho protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in Wnt signalosome assembly IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in Wnt signalosome assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium-mediated signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cellular response to dopamine IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to manganese ion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to reactive oxygen species IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to starvation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in determination of adult lifespan IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endocytosis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endoplasmic reticulum organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in exploration behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular distribution of mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in locomotory exploration behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrion localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of late endosome to lysosome transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein processing involved in protein targeting to mitochondrion IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in negative regulation of protein targeting to mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuromuscular junction development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuron projection arborization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron projection morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in olfactory bulb development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptidyl-threonine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of MAP kinase activity IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in positive regulation of MAP kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of autophagy ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of canonical Wnt signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of dopamine receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of microglial cell activation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of programmed cell death IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of synaptic vesicle endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization to endoplasmic reticulum exit site IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to mitochondrion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of CAMKK-AMPK signaling cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of ER to Golgi vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of branching morphogenesis of a nerve IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cAMP/PKA signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell projection organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of dendritic spine morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of dendritic spine morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of dopamine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of dopamine receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of kidney size ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of locomotion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of lysosomal lumen pH IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitochondrial depolarization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitochondrial fission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of neuroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of neuron maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of reactive oxygen species metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of retrograde transport, endosome to Golgi IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of synaptic transmission, glutamatergic ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of synaptic vesicle endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of synaptic vesicle exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of synaptic vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of synaptic vesicle transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in striatum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tangential migration from the subventricular zone to the olfactory bulb IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi-associated vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Wnt signalosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Wnt signalosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in amphisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in autolysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in caveola neck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoplasmic side of mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in dendrite cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum exit site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in growth cone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in multivesicular body, internal vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perikaryon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perikaryon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in phagocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in presynaptic cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in terminal bouton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in trans-Golgi network IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat serine/threonine-protein kinase 2
    Names
    augmented in rheumatoid arthritis 17
    NP_940980.4
    XP_005268686.1
    XP_011536179.1
    XP_011536183.1
    XP_011536184.1
    XP_016874275.1
    XP_016874276.1
    XP_024304601.1
    XP_047284233.1
    XP_047284234.1
    XP_047284235.1
    XP_054227024.1
    XP_054227025.1
    XP_054227026.1
    XP_054227027.1
    XP_054227028.1
    XP_054227029.1
    XP_054227030.1
    XP_054227031.1
    XP_054227032.1
    XP_054227033.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011709.2 RefSeqGene

      Range
      5002..149290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_198578.4 → NP_940980.4  leucine-rich repeat serine/threonine-protein kinase 2

      Status: REVIEWED

      Source sequence(s)
      AC079630, AC084290, AC107023
      Consensus CDS
      CCDS31774.1
      UniProtKB/Swiss-Prot
      A6NJU2, Q5S007, Q6ZS50, Q8NCX9
      UniProtKB/TrEMBL
      Q17RV3
      Related
      ENSP00000298910.7, ENST00000298910.12
      Conserved Domains (5) summary
      cd09914
      Location:1334 → 1507
      RocCOR; Ras of complex proteins (Roc) C-terminal of Roc (COR) domain family
      COG4886
      Location:1012 → 1286
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd14068
      Location:1884 → 2135
      STKc_LRRK2; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 2
      sd00033
      Location:1013 → 1036
      LRR_RI; leucine-rich repeat [structural motif]
      pfam16095
      Location:1527 → 1740
      COR; C-terminal of Roc, COR, domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      40224997..40369285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268629.5 → XP_005268686.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X1

      UniProtKB/TrEMBL
      Q17RV3
      Conserved Domains (7) summary
      cd09914
      Location:1334 → 1507
      RocCOR; Ras of complex proteins (Roc) C-terminal of Roc (COR) domain family
      smart00220
      Location:1884 → 2128
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG4886
      Location:1012 → 1286
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:986 → 1208
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd14068
      Location:1884 → 2135
      STKc_LRRK2; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 2
      sd00033
      Location:1013 → 1036
      LRR_RI; leucine-rich repeat [structural motif]
      pfam16095
      Location:1527 → 1740
      COR; C-terminal of Roc, COR, domain

    2. XM_011537877.4 → XP_011536179.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X2

      UniProtKB/TrEMBL
      Q17RV3
      Conserved Domains (7) summary
      cd09914
      Location:1334 → 1507
      RocCOR; Ras of complex proteins (Roc) C-terminal of Roc (COR) domain family
      smart00220
      Location:1884 → 2128
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG4886
      Location:1012 → 1286
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:986 → 1208
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd14068
      Location:1884 → 2135
      STKc_LRRK2; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 2
      sd00033
      Location:1013 → 1036
      LRR_RI; leucine-rich repeat [structural motif]
      pfam16095
      Location:1527 → 1740
      COR; C-terminal of Roc, COR, domain

    3. XM_047428277.1 → XP_047284233.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X3

      UniProtKB/TrEMBL
      Q17RV3

    4. XM_047428278.1 → XP_047284234.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X4

      UniProtKB/TrEMBL
      Q17RV3

    5. XM_011537881.4 → XP_011536183.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X7

      Conserved Domains (4) summary
      PLN03150
      Location:1244 → 1300
      PLN03150; hypothetical protein; Provisional
      PRK15370
      Location:1015 → 1261
      PRK15370; type III secretion system effector E3 ubiquitin transferase SlrP
      cd09914
      Location:1334 → 1507
      RocCOR; Ras of complex proteins (Roc) C-terminal of Roc (COR) domain family
      sd00033
      Location:1013 → 1036
      LRR_RI; leucine-rich repeat [structural motif]

    6. XM_047428279.1 → XP_047284235.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X6

    7. XM_017018786.3 → XP_016874275.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X8

      UniProtKB/TrEMBL
      E9PC85

    8. XM_011537882.4 → XP_011536184.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X10

      UniProtKB/TrEMBL
      E9PC85
      Related
      ENSP00000341930.2, ENST00000343742.6
      Conserved Domains (4) summary
      cd00116
      Location:986 → 1208
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:1013 → 1036
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12796
      Location:713 → 791
      Ank_2; Ankyrin repeats (3 copies)
      pfam13855
      Location:985 → 1047
      LRR_8; Leucine rich repeat

    9. XM_024448833.2 → XP_024304601.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X5

      UniProtKB/TrEMBL
      Q17RV3
      Conserved Domains (5) summary
      cd09914
      Location:933 → 1106
      RocCOR; Ras of complex proteins (Roc) C-terminal of Roc (COR) domain family
      COG4886
      Location:611 → 885
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd14068
      Location:1483 → 1734
      STKc_LRRK2; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 2
      sd00033
      Location:612 → 635
      LRR_RI; leucine-rich repeat [structural motif]
      pfam16095
      Location:1126 → 1339
      COR; C-terminal of Roc, COR, domain

    10. XM_017018787.2 → XP_016874276.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X9

    RNA

    1. XR_007063041.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      40177355..40321422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371049.1 → XP_054227024.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X1

      UniProtKB/TrEMBL
      Q17RV3

    2. XM_054371050.1 → XP_054227025.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X2

      UniProtKB/TrEMBL
      Q17RV3

    3. XM_054371051.1 → XP_054227026.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X3

      UniProtKB/TrEMBL
      Q17RV3

    4. XM_054371052.1 → XP_054227027.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X4

      UniProtKB/TrEMBL
      Q17RV3

    5. XM_054371055.1 → XP_054227030.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X7

    6. XM_054371054.1 → XP_054227029.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X6

    7. XM_054371056.1 → XP_054227031.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X8

      UniProtKB/TrEMBL
      E9PC85

    8. XM_054371058.1 → XP_054227033.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X10

      UniProtKB/TrEMBL
      E9PC85

    9. XM_054371053.1 → XP_054227028.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X5

      UniProtKB/TrEMBL
      Q17RV3

    10. XM_054371057.1 → XP_054227032.1  leucine-rich repeat serine/threonine-protein kinase 2 isoform X9

    RNA

    1. XR_008488524.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5S007.2 GenPept UniProtKB/Swiss-Prot:Q5S007

    Gene LinkOut

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