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LRRK2 (leucine rich repeat kinase 2)

Identity

Alias_namesPARK8
Parkinson disease (autosomal dominant) 8
Alias_symbol (synonym)ROCO2
DKFZp434H2111
FLJ45829
RIPK7
Other aliasAURA17
DARDARIN
HGNC (Hugo) LRRK2
LocusID (NCBI) 120892
Atlas_Id 43339
Location 12q12  [Link to chromosome band 12q12]
Location_base_pair Starts at 40225011 and ends at 40369284 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DTNB (2p23.3) / LRRK2 (12q12)FGD4 (12p11.21) / LRRK2 (12q12)LRRK2 (12q12) / GXYLT1 (12q12)
LRRK2 (12q12) / LRRK2 (12q12)FGD4 12p11.21 / LRRK2 12q12LRRK2 12q12 / GXYLT1 12q12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(12;12)(p11;q12) FGD4/LRRK2

External links

Nomenclature
HGNC (Hugo)LRRK2   18618
Cards
Entrez_Gene (NCBI)LRRK2  120892  leucine rich repeat kinase 2
AliasesAURA17; DARDARIN; PARK8; RIPK7; 
ROCO2
GeneCards (Weizmann)LRRK2
Ensembl hg19 (Hinxton)ENSG00000188906 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188906 [Gene_View]  ENSG00000188906 [Sequence]  chr12:40225011-40369284 [Contig_View]  LRRK2 [Vega]
ICGC DataPortalENSG00000188906
TCGA cBioPortalLRRK2
AceView (NCBI)LRRK2
Genatlas (Paris)LRRK2
WikiGenes120892
SOURCE (Princeton)LRRK2
Genetics Home Reference (NIH)LRRK2
Genomic and cartography
GoldenPath hg38 (UCSC)LRRK2  -     chr12:40225011-40369284 +  12q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRRK2  -     12q12   [Description]    (hg19-Feb_2009)
EnsemblLRRK2 - 12q12 [CytoView hg19]  LRRK2 - 12q12 [CytoView hg38]
Mapping of homologs : NCBILRRK2 [Mapview hg19]  LRRK2 [Mapview hg38]
OMIM607060   609007   
Gene and transcription
Genbank (Entrez)AK026776 AK122640 AK127729 AK131537 AL832453
RefSeq transcript (Entrez)NM_198578
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRRK2
Cluster EST : UnigeneHs.187636 [ NCBI ]
CGAP (NCI)Hs.187636
Alternative Splicing GalleryENSG00000188906
Gene ExpressionLRRK2 [ NCBI-GEO ]   LRRK2 [ EBI - ARRAY_EXPRESS ]   LRRK2 [ SEEK ]   LRRK2 [ MEM ]
Gene Expression Viewer (FireBrowse)LRRK2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)120892
GTEX Portal (Tissue expression)LRRK2
Human Protein AtlasENSG00000188906-LRRK2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5S007   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5S007  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5S007
Splice isoforms : SwissVarQ5S007
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusQ5S007
Domaine pattern : Prosite (Expaxy)LRR (PS51450)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)    ROC (PS51424)   
Domains : Interpro (EBI)Ankyrin_rpt-contain_sf    ARM-like    ARM-type_fold    COR    Kinase-like_dom_sf    Leu-rich_rpt    Leu-rich_rpt_4    Leu-rich_rpt_typical-subtyp    LRR_dom_sf    P-loop_NTPase    Prot_kinase_dom    Protein_kinase_ATP_BS    ROC_dom    Ser/Thr_kinase_AS    Small_GTP-bd_dom    WD40/YVTN_repeat-like_dom_sf    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)COR (PF16095)    LRR_4 (PF12799)    LRR_8 (PF13855)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam16095    pfam12799    pfam13855    pfam00069   
Domain families : Smart (EMBL)LRR_TYP (SM00369)  S_TKc (SM00220)  
Conserved Domain (NCBI)LRRK2
DMDM Disease mutations120892
Blocks (Seattle)LRRK2
PDB (RSDB)2ZEJ    3D6T    5MY9    5MYC   
PDB Europe2ZEJ    3D6T    5MY9    5MYC   
PDB (PDBSum)2ZEJ    3D6T    5MY9    5MYC   
PDB (IMB)2ZEJ    3D6T    5MY9    5MYC   
Structural Biology KnowledgeBase2ZEJ    3D6T    5MY9    5MYC   
SCOP (Structural Classification of Proteins)2ZEJ    3D6T    5MY9    5MYC   
CATH (Classification of proteins structures)2ZEJ    3D6T    5MY9    5MYC   
SuperfamilyQ5S007
Human Protein Atlas [tissue]ENSG00000188906-LRRK2 [tissue]
Peptide AtlasQ5S007
IPIIPI00175649   IPI00425978   IPI00657922   IPI00794835   IPI00894207   
Protein Interaction databases
DIP (DOE-UCLA)Q5S007
IntAct (EBI)Q5S007
FunCoupENSG00000188906
BioGRIDLRRK2
STRING (EMBL)LRRK2
ZODIACLRRK2
Ontologies - Pathways
QuickGOQ5S007
Ontology : AmiGOSNARE binding  MAPK cascade  activation of MAPKK activity  activation of MAPK activity  negative regulation of protein phosphorylation  positive regulation of protein phosphorylation  positive regulation of protein phosphorylation  actin binding  GTPase activity  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  MAP kinase kinase activity  GTPase activator activity  protein binding  ATP binding  GTP binding  GTP binding  extracellular space  nucleus  cytoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial matrix  lysosome  lysosome  endosome  endosome  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  Golgi apparatus  Golgi apparatus  Golgi-associated vesicle  trans-Golgi network  cytosol  cytosol  cytosol  plasma membrane  plasma membrane  microvillus  protein phosphorylation  protein phosphorylation  endocytosis  endocytosis  autophagy  response to oxidative stress  mitochondrion organization  mitochondrion organization  endoplasmic reticulum organization  Golgi organization  lysosome organization  spermatogenesis  neuromuscular junction development  microtubule binding  determination of adult lifespan  cellular response to starvation  regulation of autophagy  positive regulation of autophagy  positive regulation of autophagy  regulation of protein kinase A signaling  negative regulation of protein processing  negative regulation of neuron projection development  regulation of neuron maturation  tubulin binding  inclusion body  negative regulation of macroautophagy  kinase activity  kinase activity  phosphorylation  Rho GTPase binding  Rho GTPase binding  syntaxin-1 binding  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  peptidyl-threonine phosphorylation  calcium-mediated signaling  calcium-mediated signaling  striatum development  olfactory bulb development  tangential migration from the subventricular zone to the olfactory bulb  cell junction  receptor signaling complex scaffold activity  clathrin binding  axon  axon  dendrite  dendrite  growth cone  synaptic vesicle membrane  positive regulation of protein ubiquitination  cytoplasmic vesicle  mitochondrial membrane  mitochondrial membrane  negative regulation of protein binding  positive regulation of protein binding  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  cytoplasmic side of mitochondrial outer membrane  dendrite cytoplasm  positive regulation of protein import into nucleus, translocation  GTP-dependent protein kinase activity  GTP-dependent protein kinase activity  negative regulation of GTPase activity  cellular response to oxidative stress  cellular protein localization  intracellular signal transduction  regulation of kidney size  exploration behavior  locomotory exploration behavior  regulation of lysosomal lumen pH  peroxidase inhibitor activity  co-receptor binding  regulation of locomotion  regulation of membrane potential  identical protein binding  protein homodimerization activity  neuron projection  neuron projection  neuronal cell body  positive regulation of programmed cell death  terminal bouton  perikaryon  perikaryon  intracellular membrane-bounded organelle  positive regulation of MAP kinase activity  positive regulation of GTPase activity  ion channel binding  amphisome  autolysosome  membrane raft  GTP metabolic process  protein autophosphorylation  protein autophosphorylation  intracellular distribution of mitochondria  neuron projection morphogenesis  protein kinase A binding  mitochondrion localization  positive regulation of nitric-oxide synthase biosynthetic process  regulation of mitochondrial depolarization  regulation of synaptic transmission, glutamatergic  canonical Wnt signaling pathway  excitatory postsynaptic potential  regulation of dopamine receptor signaling pathway  positive regulation of dopamine receptor signaling pathway  regulation of ER to Golgi vesicle-mediated transport  regulation of canonical Wnt signaling pathway  regulation of dendritic spine morphogenesis  regulation of dendritic spine morphogenesis  regulation of dendritic spine morphogenesis  extracellular exosome  protein localization to mitochondrion  endoplasmic reticulum exit site  protein localization to endoplasmic reticulum exit site  neuron death  cellular response to manganese ion  reactive oxygen species metabolic process  regulation of mitochondrial fission  positive regulation of canonical Wnt signaling pathway  negative regulation of excitatory postsynaptic potential  multivesicular body, internal vesicle  postsynapse  glutamatergic synapse  caveola neck  presynaptic cytosol  neuron projection arborization  positive regulation of synaptic vesicle endocytosis  regulation of neuron death  negative regulation of neuron death  positive regulation of histone deacetylase activity  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  positive regulation of protein autoubiquitination  regulation of neuroblast proliferation  regulation of synaptic vesicle transport  regulation of synaptic vesicle transport  regulation of synaptic vesicle transport  negative regulation of late endosome to lysosome transport  negative regulation of autophagosome assembly  negative regulation of autophagosome assembly  negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation  negative regulation of hydrogen peroxide-induced cell death  negative regulation of protein targeting to mitochondrion  negative regulation of protein processing involved in protein targeting to mitochondrion  cellular response to dopamine  positive regulation of microglial cell activation  positive regulation of tumor necrosis factor secretion  beta-catenin destruction complex binding  Wnt signalosome assembly  Wnt signalosome assembly  regulation of retrograde transport, endosome to Golgi  regulation of retrograde transport, endosome to Golgi  regulation of CAMKK-AMPK signaling cascade  ribonucleoprotein complex  Wnt signalosome  Wnt signalosome  regulation of branching morphogenesis of a nerve  regulation of synaptic vesicle exocytosis  
Ontology : EGO-EBISNARE binding  MAPK cascade  activation of MAPKK activity  activation of MAPK activity  negative regulation of protein phosphorylation  positive regulation of protein phosphorylation  positive regulation of protein phosphorylation  actin binding  GTPase activity  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  MAP kinase kinase activity  GTPase activator activity  protein binding  ATP binding  GTP binding  GTP binding  extracellular space  nucleus  cytoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial matrix  lysosome  lysosome  endosome  endosome  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum  Golgi apparatus  Golgi apparatus  Golgi apparatus  Golgi-associated vesicle  trans-Golgi network  cytosol  cytosol  cytosol  plasma membrane  plasma membrane  microvillus  protein phosphorylation  protein phosphorylation  endocytosis  endocytosis  autophagy  response to oxidative stress  mitochondrion organization  mitochondrion organization  endoplasmic reticulum organization  Golgi organization  lysosome organization  spermatogenesis  neuromuscular junction development  microtubule binding  determination of adult lifespan  cellular response to starvation  regulation of autophagy  positive regulation of autophagy  positive regulation of autophagy  regulation of protein kinase A signaling  negative regulation of protein processing  negative regulation of neuron projection development  regulation of neuron maturation  tubulin binding  inclusion body  negative regulation of macroautophagy  kinase activity  kinase activity  phosphorylation  Rho GTPase binding  Rho GTPase binding  syntaxin-1 binding  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  peptidyl-threonine phosphorylation  calcium-mediated signaling  calcium-mediated signaling  striatum development  olfactory bulb development  tangential migration from the subventricular zone to the olfactory bulb  cell junction  receptor signaling complex scaffold activity  clathrin binding  axon  axon  dendrite  dendrite  growth cone  synaptic vesicle membrane  positive regulation of protein ubiquitination  cytoplasmic vesicle  mitochondrial membrane  mitochondrial membrane  negative regulation of protein binding  positive regulation of protein binding  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  cytoplasmic side of mitochondrial outer membrane  dendrite cytoplasm  positive regulation of protein import into nucleus, translocation  GTP-dependent protein kinase activity  GTP-dependent protein kinase activity  negative regulation of GTPase activity  cellular response to oxidative stress  cellular protein localization  intracellular signal transduction  regulation of kidney size  exploration behavior  locomotory exploration behavior  regulation of lysosomal lumen pH  peroxidase inhibitor activity  co-receptor binding  regulation of locomotion  regulation of membrane potential  identical protein binding  protein homodimerization activity  neuron projection  neuron projection  neuronal cell body  positive regulation of programmed cell death  terminal bouton  perikaryon  perikaryon  intracellular membrane-bounded organelle  positive regulation of MAP kinase activity  positive regulation of GTPase activity  ion channel binding  amphisome  autolysosome  membrane raft  GTP metabolic process  protein autophosphorylation  protein autophosphorylation  intracellular distribution of mitochondria  neuron projection morphogenesis  protein kinase A binding  mitochondrion localization  positive regulation of nitric-oxide synthase biosynthetic process  regulation of mitochondrial depolarization  regulation of synaptic transmission, glutamatergic  canonical Wnt signaling pathway  excitatory postsynaptic potential  regulation of dopamine receptor signaling pathway  positive regulation of dopamine receptor signaling pathway  regulation of ER to Golgi vesicle-mediated transport  regulation of canonical Wnt signaling pathway  regulation of dendritic spine morphogenesis  regulation of dendritic spine morphogenesis  regulation of dendritic spine morphogenesis  extracellular exosome  protein localization to mitochondrion  endoplasmic reticulum exit site  protein localization to endoplasmic reticulum exit site  neuron death  cellular response to manganese ion  reactive oxygen species metabolic process  regulation of mitochondrial fission  positive regulation of canonical Wnt signaling pathway  negative regulation of excitatory postsynaptic potential  multivesicular body, internal vesicle  postsynapse  glutamatergic synapse  caveola neck  presynaptic cytosol  neuron projection arborization  positive regulation of synaptic vesicle endocytosis  regulation of neuron death  negative regulation of neuron death  positive regulation of histone deacetylase activity  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  positive regulation of protein autoubiquitination  regulation of neuroblast proliferation  regulation of synaptic vesicle transport  regulation of synaptic vesicle transport  regulation of synaptic vesicle transport  negative regulation of late endosome to lysosome transport  negative regulation of autophagosome assembly  negative regulation of autophagosome assembly  negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation  negative regulation of hydrogen peroxide-induced cell death  negative regulation of protein targeting to mitochondrion  negative regulation of protein processing involved in protein targeting to mitochondrion  cellular response to dopamine  positive regulation of microglial cell activation  positive regulation of tumor necrosis factor secretion  beta-catenin destruction complex binding  Wnt signalosome assembly  Wnt signalosome assembly  regulation of retrograde transport, endosome to Golgi  regulation of retrograde transport, endosome to Golgi  regulation of CAMKK-AMPK signaling cascade  ribonucleoprotein complex  Wnt signalosome  Wnt signalosome  regulation of branching morphogenesis of a nerve  regulation of synaptic vesicle exocytosis  
Pathways : KEGGParkinson's disease   
NDEx NetworkLRRK2
Atlas of Cancer Signalling NetworkLRRK2
Wikipedia pathwaysLRRK2
Orthology - Evolution
OrthoDB120892
GeneTree (enSembl)ENSG00000188906
Phylogenetic Trees/Animal Genes : TreeFamLRRK2
HOGENOMQ5S007
Homologs : HomoloGeneLRRK2
Homology/Alignments : Family Browser (UCSC)LRRK2
Gene fusions - Rearrangements
Fusion : MitelmanFGD4/LRRK2 [12p11.21/12q12]  [t(12;12)(p11;q12)]  
Fusion PortalFGD4 12p11.21 LRRK2 12q12 GBM
Fusion PortalLRRK2 12q12 GXYLT1 12q12 LGG
Fusion : QuiverLRRK2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRRK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRRK2
dbVarLRRK2
ClinVarLRRK2
1000_GenomesLRRK2 
Exome Variant ServerLRRK2
ExAC (Exome Aggregation Consortium)ENSG00000188906
GNOMAD BrowserENSG00000188906
Varsome BrowserLRRK2
Genetic variants : HAPMAP120892
Genomic Variants (DGV)LRRK2 [DGVbeta]
DECIPHERLRRK2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRRK2 
Mutations
ICGC Data PortalLRRK2 
TCGA Data PortalLRRK2 
Broad Tumor PortalLRRK2
OASIS PortalLRRK2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRRK2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRRK2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch LRRK2
DgiDB (Drug Gene Interaction Database)LRRK2
DoCM (Curated mutations)LRRK2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRRK2 (select a term)
intoGenLRRK2
Cancer3DLRRK2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607060    609007   
Orphanet932    23022   
DisGeNETLRRK2
MedgenLRRK2
Genetic Testing Registry LRRK2
NextProtQ5S007 [Medical]
TSGene120892
GENETestsLRRK2
Target ValidationLRRK2
Huge Navigator LRRK2 [HugePedia]
snp3D : Map Gene to Disease120892
BioCentury BCIQLRRK2
ClinGenLRRK2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD120892
Chemical/Pharm GKB GenePA134968052
Clinical trialLRRK2
Miscellaneous
canSAR (ICR)LRRK2 (select the gene name)
DataMed IndexLRRK2
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRRK2
EVEXLRRK2
GoPubMedLRRK2
iHOPLRRK2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 18:21:33 CET 2019
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