LRRK2 (leucine rich repeat kinase 2)

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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LRRK2 (leucine rich repeat kinase 2)

Identity

Alias (NCBI)	AURA17
	DARDARIN
	PARK8
	RIPK7
	ROCO2
HGNC (Hugo)	LRRK2
HGNC Alias symb	ROCO2
	DKFZp434H2111
	FLJ45829
	RIPK7
HGNC Alias name	dardarin
HGNC Previous name	PARK8
HGNC Previous name	Parkinson disease (autosomal dominant) 8
LocusID (NCBI)	120892
Atlas_Id	43339
Location	12q12 [Link to chromosome band 12q12]
Location_base_pair	Starts at 40224997 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 12q12	LRRK2 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 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
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]
ImmunoBase	ENSG00000188906
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
Blocks (Seattle)	LRRK2
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
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]
dbVar	LRRK2
ClinVar	LRRK2
Monarch	LRRK2
1000_Genomes	LRRK2
Exome Variant Server	LRRK2
GNOMAD Browser	ENSG00000188906
Varsome Browser	LRRK2
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	search 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]
GENETests	LRRK2
Target Validation	LRRK2
Huge Navigator	LRRK2 [HugePedia]
ClinGen	LRRK2
	Clinical trials, drugs, therapy
MyCancerGenome	LRRK2
Protein Interactions : CTD
Pharm GKB Gene	PA134968052
Pharos	Q5S007
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)
EVEX	LRRK2

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Fri Jan 1 18:23:26 CET 2021

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Atlas of Genetics and Cytogenetics in Oncology and Haematology

LRRK2 (leucine rich repeat kinase 2)

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

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