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

Gene ID: 120892, updated on 11-Sep-2014
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; Vega:OTTHUMG00000059742
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]
See LRRK2 in Epigenomics, MapViewer
Location:
12q12
Exon count:
51
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (40225011..40369285)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (40618813..40763087)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 2 (facilitated glucose transporter), member 13 Neighboring gene ribosomal protein L30 pseudogene 13 Neighboring gene uncharacterized LOC101930164 Neighboring gene microtubule-associated protein 6 pseudogene Neighboring gene mucin 19, oligomeric Neighboring gene methionyl aminopeptidase 1 pseudogene Neighboring gene contactin 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
NHGRI GWA Catalog
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
NHGRI GWA Catalog
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat LRRK2 kinase inhibition suppresses HIV-1 Tat-induced upregulation of phosphatidylserine receptor BAI1 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

Go to the HIV-1, Human Protein Interaction Database

  • MAPK signaling pathway, organism-specific biosystem (from WikiPathways)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Parkinson's disease, organism-specific biosystem (from KEGG)
    Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
  • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
    Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
  • Wnt Signaling Pathway and Pluripotency, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway and Pluripotency, organism-specific biosystemThis pathway was adapted from several resources and is designed to provide a theoretical frame-work for examining Wnt signaling and interacting components in the context of embryonic stem-cell plurip...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP-dependent protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
GTP-dependent protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
 
MAP kinase kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Rho GTPase binding IPI
Inferred from Physical Interaction
more info
 
SNARE binding IPI
Inferred from Physical Interaction
more info
 
actin binding IPI
Inferred from Physical Interaction
more info
 
clathrin binding IPI
Inferred from Physical Interaction
more info
 
glycoprotein binding IPI
Inferred from Physical Interaction
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
 
kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
peroxidase inhibitor activity IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A binding IPI
Inferred from Physical Interaction
more info
 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
syntaxin-1 binding IPI
Inferred from Physical Interaction
more info
 
tubulin binding IDA
Inferred from Direct Assay
more info
 
Process Evidence Code Pubs
GTP catabolic process IDA
Inferred from Direct Assay
more info
 
MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
activation of MAPK activity IDA
Inferred from Direct Assay
more info
PubMed 
activation of MAPKK activity IDA
Inferred from Direct Assay
more info
PubMed 
autophagy IEA
Inferred from Electronic Annotation
more info
 
cellular protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to dopamine IMP
Inferred from Mutant Phenotype
more info
 
cellular response to manganese ion IMP
Inferred from Mutant Phenotype
more info
 
cellular response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
 
determination of adult lifespan IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocytosis IGI
Inferred from Genetic Interaction
more info
 
endocytosis IMP
Inferred from Mutant Phenotype
more info
 
exploration behavior IMP
Inferred from Mutant Phenotype
more info
 
intracellular distribution of mitochondria IMP
Inferred from Mutant Phenotype
more info
 
intracellular signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
locomotory exploration behavior IEA
Inferred from Electronic Annotation
more info
 
negative regulation of GTPase activity IDA
Inferred from Direct Assay
more info
 
negative regulation of hydrogen peroxide-induced cell death IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of late endosome to lysosome transport TAS
Traceable Author Statement
more info
 
negative regulation of peroxidase activity IDA
Inferred from Direct Assay
more info
 
negative regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein processing IDA
Inferred from Direct Assay
more info
 
negative regulation of protein processing involved in protein targeting to mitochondrion IC
Inferred by Curator
more info
 
negative regulation of protein targeting to mitochondrion IDA
Inferred from Direct Assay
more info
 
negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation IDA
Inferred from Direct Assay
more info
 
neuromuscular junction development IMP
Inferred from Mutant Phenotype
more info
 
neuron death IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
olfactory bulb development IMP
Inferred from Mutant Phenotype
more info
 
peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-threonine phosphorylation IDA
Inferred from Direct Assay
more info
 
peptidyl-threonine phosphorylation IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of MAP kinase activity IC
Inferred by Curator
more info
 
positive regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of autophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of dopamine receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of programmed cell death IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of proteasomal ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein autoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein binding IDA
Inferred from Direct Assay
more info
 
positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein autophosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
 
reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
 
regulation of branching morphogenesis of a nerve IMP
Inferred from Mutant Phenotype
more info
 
regulation of dendritic spine morphogenesis IMP
Inferred from Mutant Phenotype
more info
 
regulation of dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of dopamine receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of excitatory postsynaptic membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of kidney size ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of locomotion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of membrane potential IMP
Inferred from Mutant Phenotype
more info
 
regulation of mitochondrial depolarization IMP
Inferred from Mutant Phenotype
more info
 
regulation of neuroblast proliferation IMP
Inferred from Mutant Phenotype
more info
 
regulation of neuron death IMP
Inferred from Mutant Phenotype
more info
 
regulation of neuron maturation IMP
Inferred from Mutant Phenotype
more info
 
regulation of protein kinase A signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of synaptic transmission, glutamatergic ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of synaptic vesicle exocytosis IMP
Inferred from Mutant Phenotype
more info
 
regulation of synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of synaptic vesicle transport TAS
Traceable Author Statement
more info
 
response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
tangential migration from the subventricular zone to the olfactory bulb IMP
Inferred from Mutant Phenotype
more info
 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
axon IDA
Inferred from Direct Assay
more info
PubMed 
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic side of mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
dendrite IDA
Inferred from Direct Assay
more info
PubMed 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite cytoplasm IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
inclusion body IMP
Inferred from Mutant Phenotype
more info
 
lysosome ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial matrix ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
 
mitochondrial outer membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
neuron projection IDA
Inferred from Direct Assay
more info
 
neuronal cell body IDA
Inferred from Direct Assay
more info
 
perikaryon IDA
Inferred from Direct Assay
more info
PubMed 
perikaryon ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 
terminal bouton TAS
Traceable Author Statement
more info
 
trans-Golgi network IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
leucine-rich repeat serine/threonine-protein kinase 2
Names
leucine-rich repeat serine/threonine-protein kinase 2
augmented in rheumatoid arthritis 17
NP_940980.3

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_011709.1 

    Range
    5001..149275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_198578.3NP_940980.3  leucine-rich repeat serine/threonine-protein kinase 2

    Status: REVIEWED

    Source sequence(s)
    AK026776, AK122640, AL832453, AY792511, BC117180, BM285390, CN294292
    Consensus CDS
    CCDS31774.1
    UniProtKB/TrEMBL
    Q17RV3
    UniProtKB/Swiss-Prot
    Q5S007
    Related
    ENSP00000298910, OTTHUMP00000179167, ENST00000298910, OTTHUMT00000277179
    Conserved Domains (8) summary
    cd00180
    Location:18852132
    Blast Score: 418
    PKc; Catalytic domain of Protein Kinases
    cd09914
    Location:13341507
    Blast Score: 591
    RocCOR; Ras of complex proteins (Roc) C-terminal of Roc (COR) domain family
    smart00220
    Location:18842128
    Blast Score: 415
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1100
    Location:13331461
    Blast Score: 152
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
    cd00116
    Location:9861208
    Blast Score: 129
    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 ...
    cd00200
    Location:21682385
    Blast Score: 99
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    pfam12796
    Location:713793
    Blast Score: 87
    Ank_2; Ankyrin repeats (3 copies)
    pfam13855
    Location:9841047
    Blast Score: 108
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    40225011..40369285
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268629.1XP_005268686.1  

    Conserved Domains (8) summary
    cd00180
    Location:18852132
    Blast Score: 418
    PKc; Catalytic domain of Protein Kinases
    cd09914
    Location:13341507
    Blast Score: 591
    RocCOR; Ras of complex proteins (Roc) C-terminal of Roc (COR) domain family
    smart00220
    Location:18842128
    Blast Score: 414
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1100
    Location:13331461
    Blast Score: 152
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
    cd00116
    Location:9861208
    Blast Score: 129
    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 ...
    cd00200
    Location:21682385
    Blast Score: 99
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    pfam12796
    Location:713793
    Blast Score: 87
    Ank_2; Ankyrin repeats (3 copies)
    pfam13855
    Location:9841047
    Blast Score: 108
    LRR_8; Leucine rich repeat

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    37646624..37790676
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    40584126..40728194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)