| Nomenclature |
|---|
| HGNC (Hugo) | LRRK2 18618 |
| Cards |
|---|
| Entrez_Gene (NCBI) | LRRK2 120892 leucine rich repeat kinase 2 |
| Aliases | AURA17; DARDARIN; PARK8; RIPK7; |
| ROCO2 |
| GeneCards (Weizmann) | LRRK2 |
| Ensembl hg19 (Hinxton) | ENSG00000188906 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000188906 [Gene_View] ENSG00000188906 [Sequence] chr12:40224997-40369284 [Contig_View] LRRK2 [Vega] |
| ICGC DataPortal | ENSG00000188906 |
| TCGA cBioPortal | LRRK2 |
| AceView (NCBI) | LRRK2 |
| Genatlas (Paris) | LRRK2 |
| WikiGenes | 120892 |
| SOURCE (Princeton) | LRRK2 |
| Genetics Home Reference (NIH) | LRRK2 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | LRRK2 - chr12:40224997-40369284 + 12q12 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | LRRK2 - 12q12 [Description] (hg19-Feb_2009) |
| GoldenPath | LRRK2 - 12q12 [CytoView hg19] LRRK2 - 12q12 [CytoView hg38] |
| Genome Data Viewer NCBI | LRRK2 [Mapview hg19] |
| OMIM | 607060 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 |
| Alternative Splicing Gallery | ENSG00000188906 |
| Gene Expression | LRRK2 [ NCBI-GEO ] LRRK2 [ EBI - ARRAY_EXPRESS ]
LRRK2 [ SEEK ] LRRK2 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | LRRK2 [ Firebrowse - Broad ] |
| Genevisible | Expression of LRRK2 in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 120892 |
| GTEX Portal (Tissue expression) | LRRK2 |
| Human Protein Atlas | ENSG00000188906-LRRK2 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | Q5S007 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | Q5S007 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | Q5S007 |
| Splice isoforms : SwissVar | Q5S007 |
| PhosPhoSitePlus | Q5S007 |
| 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_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_8 (PF13855) Pkinase (PF00069) |
| Domain families : Pfam (NCBI) | pfam16095 pfam13855 pfam00069 |
| Domain families : Smart (EMBL) | LRR_TYP (SM00369) S_TKc (SM00220) |
| Conserved Domain (NCBI) | LRRK2 |
| DMDM Disease mutations | 120892 |
| PDB (RSDB) | 2ZEJ 3D6T 5MY9 5MYC 6DLO 6DLP |
| PDB Europe | 2ZEJ 3D6T 5MY9 5MYC 6DLO 6DLP |
| PDB (PDBSum) | 2ZEJ 3D6T 5MY9 5MYC 6DLO 6DLP |
| PDB (IMB) | 2ZEJ 3D6T 5MY9 5MYC 6DLO 6DLP |
| Structural Biology KnowledgeBase | 2ZEJ 3D6T 5MY9 5MYC 6DLO 6DLP |
| SCOP (Structural Classification of Proteins) | 2ZEJ 3D6T 5MY9 5MYC 6DLO 6DLP |
| CATH (Classification of proteins structures) | 2ZEJ 3D6T 5MY9 5MYC 6DLO 6DLP |
| Superfamily | Q5S007 |
| Human Protein Atlas [tissue] | ENSG00000188906-LRRK2 [tissue] |
| Peptide Atlas | Q5S007 |
| IPI | IPI00175649 IPI00425978 IPI00657922 IPI00794835 IPI00894207 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q5S007 |
| IntAct (EBI) | Q5S007 |
| FunCoup | ENSG00000188906 |
| BioGRID | LRRK2 |
| STRING (EMBL) | LRRK2 |
| ZODIAC | LRRK2 |
| Ontologies - Pathways |
|---|
| QuickGO | Q5S007 |
| Ontology : AmiGO | Golgi membrane SNARE binding SNARE binding MAPK cascade activation of MAPKK activity activation of MAPK activity magnesium ion binding 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 protein serine/threonine kinase activity protein serine/threonine kinase activity MAP kinase kinase activity protein serine/threonine phosphatase activity GTPase activator activity protein binding ATP binding GTP binding GTP binding extracellular space nucleoplasm cytoplasm cytoplasm cytoplasm mitochondrion mitochondrial outer membrane mitochondrial outer membrane mitochondrial inner membrane mitochondrial matrix lysosome lysosome endosome endosome endoplasmic reticulum endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus Golgi apparatus Golgi apparatus Golgi-associated vesicle trans-Golgi network cytosol cytosol cytosol plasma membrane plasma membrane microvillus protein phosphorylation protein phosphorylation protein phosphorylation protein import into nucleus endocytosis endocytosis autophagy response to oxidative stress mitochondrion organization mitochondrion organization endoplasmic reticulum organization endoplasmic reticulum organization Golgi organization Golgi organization lysosome organization signal transduction 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 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 receptor signaling complex scaffold activity clathrin binding axon axon axon dendrite dendrite growth cone synaptic vesicle membrane positive regulation of protein ubiquitination cytoplasmic vesicle regulation of protein stability 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 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 regulation of membrane potential identical protein binding protein homodimerization activity neuron projection neuronal cell body positive regulation of programmed cell death terminal bouton perikaryon perikaryon perikaryon intracellular membrane-bounded organelle 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 neuron projection morphogenesis protein kinase A binding 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 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 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 endoplasmic reticulum exit site protein localization to endoplasmic reticulum exit site protein localization to endoplasmic reticulum exit site neuron death cellular response to manganese ion cellular response to organic cyclic compound 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-EBI | Golgi membrane SNARE binding SNARE binding MAPK cascade activation of MAPKK activity activation of MAPK activity magnesium ion binding 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 protein serine/threonine kinase activity protein serine/threonine kinase activity MAP kinase kinase activity protein serine/threonine phosphatase activity GTPase activator activity protein binding ATP binding GTP binding GTP binding extracellular space nucleoplasm cytoplasm cytoplasm cytoplasm mitochondrion mitochondrial outer membrane mitochondrial outer membrane mitochondrial inner membrane mitochondrial matrix lysosome lysosome endosome endosome endoplasmic reticulum endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus Golgi apparatus Golgi apparatus Golgi-associated vesicle trans-Golgi network cytosol cytosol cytosol plasma membrane plasma membrane microvillus protein phosphorylation protein phosphorylation protein phosphorylation protein import into nucleus endocytosis endocytosis autophagy response to oxidative stress mitochondrion organization mitochondrion organization endoplasmic reticulum organization endoplasmic reticulum organization Golgi organization Golgi organization lysosome organization signal transduction 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 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 receptor signaling complex scaffold activity clathrin binding axon axon axon dendrite dendrite growth cone synaptic vesicle membrane positive regulation of protein ubiquitination cytoplasmic vesicle regulation of protein stability 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 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 regulation of membrane potential identical protein binding protein homodimerization activity neuron projection neuronal cell body positive regulation of programmed cell death terminal bouton perikaryon perikaryon perikaryon intracellular membrane-bounded organelle 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 neuron projection morphogenesis protein kinase A binding 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 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 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 endoplasmic reticulum exit site protein localization to endoplasmic reticulum exit site protein localization to endoplasmic reticulum exit site neuron death cellular response to manganese ion cellular response to organic cyclic compound 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 : KEGG | Parkinson's disease |
| NDEx Network | LRRK2 |
| Atlas of Cancer Signalling Network | LRRK2 |
| Wikipedia pathways | LRRK2 |
| Orthology - Evolution |
|---|
| OrthoDB | 120892 |
| GeneTree (enSembl) | ENSG00000188906 |
| Phylogenetic Trees/Animal Genes : TreeFam | LRRK2 |
| HOGENOM | Q5S007 |
| Homologs : HomoloGene | LRRK2 |
| Homology/Alignments : Family Browser (UCSC) | LRRK2 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | FGD4/LRRK2 [12p11.21/12q12] |
| Fusion Portal | FGD4 12p11.21 LRRK2 12q12 GBM |
| Fusion Portal | LRRK2 12q12 GXYLT1 12q12 LGG |
| Fusion : Quiver | LRRK2 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | LRRK2 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | LRRK2 |
| dbVar | LRRK2 |
| ClinVar | LRRK2 |
| 1000_Genomes | LRRK2 |
| Exome Variant Server | LRRK2 |
| GNOMAD Browser | ENSG00000188906 |
| Varsome Browser | LRRK2 |
| Genetic variants : HAPMAP | 120892 |
| Genomic Variants (DGV) | LRRK2 [DGVbeta] |
| DECIPHER | LRRK2 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | LRRK2 |
| Mutations |
|---|
| ICGC Data Portal | LRRK2 |
| TCGA Data Portal | LRRK2 |
| Broad Tumor Portal | LRRK2 |
| OASIS Portal | LRRK2 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | LRRK2 [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | LRRK2 |
| Mutations and Diseases : HGMD | LRRK2 |
| 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 |
| BioMuta | select 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) |
| intoGen | LRRK2 |
| Cancer3D | LRRK2 (select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 607060 609007 |
| Orphanet | 932 23022 |
| DisGeNET | LRRK2 |
| Medgen | LRRK2 |
| Genetic Testing Registry | LRRK2
|
| NextProt | Q5S007 [Medical] |
| TSGene | 120892 |
| GENETests | LRRK2 |
| Open Targets Genetics | ENSG00000188906 [validation] |
| snp3D : Map Gene to Disease | 120892 |
| BioCentury BCIQ | LRRK2 |
| ClinGen | LRRK2 |
| Clinical trials, drugs, therapy |
|---|
| Protein Interactions : CTD | 120892 |
| Pharm GKB Gene | PA134968052 |
| Clinical trial | LRRK2 |
| Miscellaneous |
|---|
| canSAR (ICR) | LRRK2 (select the gene name) |
| Harmonizome | LRRK2 |
| DataMed Index | LRRK2 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 499 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | LRRK2 |
| EVEX | LRRK2 |
