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

Gene ID: 120892, updated on 27-Nov-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
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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. Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers. Marras C, et al. Neurology, 2011 Jul 26. PMID 21753163, Free PMC Article
  2. Regulation of physiologic actions of LRRK2: focus on autophagy. Ferree A, et al. Neurodegener Dis, 2012. PMID 22204929, Free PMC Article
  3. A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity. Kim JS, et al. Mov Disord, 2012 Feb. PMID 22162019
  4. Leucine-rich repeat kinase 2 (LRRK2) cellular biology: a review of recent advances in identifying physiological substrates and cellular functions. Drolet RE, et al. J Neurogenet, 2011 Dec. PMID 22077787
  5. Cognitive dysfunction in Tunisian LRRK2 associated Parkinson's disease. Ben Sassi S, et al. Parkinsonism Relat Disord, 2012 Mar. PMID 22056842

See all (1000) 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

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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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

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

  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

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

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

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

  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

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

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

  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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