Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

URGENT NEED of MONEY :
GO to the page SAVE the Atlas and DONATE

LRRK2 (leucine-rich repeat kinase 2)

Identity

Other namesAURA17
DARDARIN
PARK8
RIPK7
ROCO2
HGNC (Hugo) LRRK2
LocusID (NCBI) 120892
Atlas_Id 43339
Location 12q12
Location_base_pair Starts at 40618813 and ends at 40763086 bp from pter ( according to hg19-Feb_2009)

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

 

External links

Nomenclature
HGNC (Hugo)LRRK2   18618
Cards
Entrez_Gene (NCBI)LRRK2  120892  leucine-rich repeat kinase 2
GeneCards (Weizmann)LRRK2
Ensembl hg19 (Hinxton)ENSG00000188906 [Gene_View]  chr12:40618813-40763086 [Contig_View]  LRRK2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000188906 [Gene_View]  chr12:40618813-40763086 [Contig_View]  LRRK2 [Vega]
ICGC DataPortalENSG00000188906
TCGA cBioPortalLRRK2
AceView (NCBI)LRRK2
Genatlas (Paris)LRRK2
WikiGenes120892
SOURCE (Princeton)LRRK2
Genomic and cartography
GoldenPath hg19 (UCSC)LRRK2  -     chr12:40618813-40763086 +  12q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LRRK2  -     12q12   [Description]    (hg38-Dec_2013)
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)NC_000012 NC_018923 NG_011709 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)LRRK2
Cluster EST : UnigeneHs.187636 [ NCBI ]
CGAP (NCI)Hs.187636
Alternative Splicing : Fast-db (Paris)GSHG0006587
Alternative Splicing GalleryENSG00000188906
Gene ExpressionLRRK2 [ NCBI-GEO ]     LRRK2 [ SEEK ]   LRRK2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5S007 (Uniprot)
NextProtQ5S007  [Medical]
With graphics : InterProQ5S007
Splice isoforms : SwissVarQ5S007 (Swissvar)
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 ]   
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_dom    ARM-like    ARM-type_fold    Kinase-like_dom    Leu-rich_rpt    Leu-rich_rpt_4    Leu-rich_rpt_typical-subtyp    MIRO-like    P-loop_NTPase    Prot_kinase_dom    Protein_kinase_ATP_BS    ROC_GTPase    Ser/Thr_kinase_AS    Small_GTP-bd_dom    Small_GTPase    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Related proteins : CluSTrQ5S007
Domain families : Pfam (Sanger)LRR_1 (PF00560)    LRR_4 (PF12799)    LRR_8 (PF13855)    Miro (PF08477)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00560    pfam12799    pfam13855    pfam08477    pfam00069   
Domain families : Smart (EMBL)LRR_TYP (SM00369)  WD40 (SM00320)  
DMDM Disease mutations120892
Blocks (Seattle)Q5S007
PDB (SRS)2ZEJ    3D6T   
PDB (PDBSum)2ZEJ    3D6T   
PDB (IMB)2ZEJ    3D6T   
PDB (RSDB)2ZEJ    3D6T   
Human Protein AtlasENSG00000188906
Peptide AtlasQ5S007
IPIIPI00175649   IPI00425978   IPI00657922   IPI00794835   IPI00894207   
Protein Interaction databases
DIP (DOE-UCLA)Q5S007
IntAct (EBI)Q5S007
FunCoupENSG00000188906
BioGRIDLRRK2
IntegromeDBLRRK2
STRING (EMBL)LRRK2
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  glycoprotein binding  actin binding  GTPase activity  protein kinase activity  protein serine/threonine kinase activity  MAP kinase kinase activity  GTPase activator activity  protein binding  ATP binding  GTP binding  extracellular space  cytoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial matrix  lysosome  endosome  endoplasmic reticulum  Golgi apparatus  trans-Golgi network  cytosol  plasma membrane  protein phosphorylation  endocytosis  endocytosis  autophagy  response to oxidative stress  small GTPase mediated signal transduction  neuromuscular junction development  determination of adult lifespan  positive regulation of autophagy  positive regulation of autophagy  regulation of protein kinase A signaling  negative regulation of protein processing  regulation of neuron maturation  tubulin binding  inclusion body  kinase activity  Rho GTPase binding  syntaxin-1 binding  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  peptidyl-threonine phosphorylation  olfactory bulb development  tangential migration from the subventricular zone to the olfactory bulb  cell junction  clathrin binding  axon  axon  dendrite  dendrite  synaptic vesicle membrane  positive regulation of protein ubiquitination  cytoplasmic vesicle  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  peroxidase inhibitor activity  regulation of locomotion  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  positive regulation of MAP kinase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  ion channel binding  membrane raft  protein autophosphorylation  protein autophosphorylation  intracellular distribution of mitochondria  neuron projection morphogenesis  protein kinase A binding  regulation of mitochondrial depolarization  regulation of synaptic transmission, glutamatergic  regulation of excitatory postsynaptic membrane potential  regulation of dopamine receptor signaling pathway  positive regulation of dopamine receptor signaling pathway  regulation of dendritic spine morphogenesis  regulation of dendritic spine morphogenesis  extracellular exosome  protein localization to mitochondrion  neuron death  cellular response to manganese ion  reactive oxygen species metabolic process  regulation of mitochondrial fission  regulation of neuron death  negative regulation of neuron death  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  negative regulation of late endosome to lysosome transport  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  regulation of branching morphogenesis of a nerve  regulation of synaptic vesicle exocytosis  negative regulation of peroxidase activity  
Ontology : EGO-EBISNARE binding  MAPK cascade  activation of MAPKK activity  activation of MAPK activity  negative regulation of protein phosphorylation  positive regulation of protein phosphorylation  glycoprotein binding  actin binding  GTPase activity  protein kinase activity  protein serine/threonine kinase activity  MAP kinase kinase activity  GTPase activator activity  protein binding  ATP binding  GTP binding  extracellular space  cytoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  mitochondrial matrix  lysosome  endosome  endoplasmic reticulum  Golgi apparatus  trans-Golgi network  cytosol  plasma membrane  protein phosphorylation  endocytosis  endocytosis  autophagy  response to oxidative stress  small GTPase mediated signal transduction  neuromuscular junction development  determination of adult lifespan  positive regulation of autophagy  positive regulation of autophagy  regulation of protein kinase A signaling  negative regulation of protein processing  regulation of neuron maturation  tubulin binding  inclusion body  kinase activity  Rho GTPase binding  syntaxin-1 binding  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  peptidyl-threonine phosphorylation  olfactory bulb development  tangential migration from the subventricular zone to the olfactory bulb  cell junction  clathrin binding  axon  axon  dendrite  dendrite  synaptic vesicle membrane  positive regulation of protein ubiquitination  cytoplasmic vesicle  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  peroxidase inhibitor activity  regulation of locomotion  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  positive regulation of MAP kinase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  ion channel binding  membrane raft  protein autophosphorylation  protein autophosphorylation  intracellular distribution of mitochondria  neuron projection morphogenesis  protein kinase A binding  regulation of mitochondrial depolarization  regulation of synaptic transmission, glutamatergic  regulation of excitatory postsynaptic membrane potential  regulation of dopamine receptor signaling pathway  positive regulation of dopamine receptor signaling pathway  regulation of dendritic spine morphogenesis  regulation of dendritic spine morphogenesis  extracellular exosome  protein localization to mitochondrion  neuron death  cellular response to manganese ion  reactive oxygen species metabolic process  regulation of mitochondrial fission  regulation of neuron death  negative regulation of neuron death  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  negative regulation of late endosome to lysosome transport  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  regulation of branching morphogenesis of a nerve  regulation of synaptic vesicle exocytosis  negative regulation of peroxidase activity  
Pathways : KEGGParkinson's disease   
Protein Interaction DatabaseLRRK2
DoCM (Curated mutations)LRRK2
Wikipedia pathwaysLRRK2
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerLRRK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRRK2
dbVarLRRK2
ClinVarLRRK2
1000_GenomesLRRK2 
Exome Variant ServerLRRK2
SNP (GeneSNP Utah)LRRK2
SNP : HGBaseLRRK2
Genetic variants : HAPMAPLRRK2
Genomic Variants (DGV)LRRK2 [DGVbeta]
Mutations
ICGC Data PortalLRRK2 
TCGA Data PortalLRRK2 
Tumor PortalLRRK2
Somatic Mutations in Cancer : COSMICLRRK2 
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
LOVD (Leiden Open Variation Database)Parkinson's disease Mutation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:40618813-40763086
CONAN: Copy Number AnalysisLRRK2 
Mutations and Diseases : HGMDLRRK2
OMIM607060    609007   
MedgenLRRK2
NextProtQ5S007 [Medical]
GENETestsLRRK2
Disease Genetic AssociationLRRK2
Huge Navigator LRRK2 [HugePedia]  LRRK2 [HugeCancerGEM]
snp3D : Map Gene to Disease120892
DGIdb (Drug Gene Interaction db)LRRK2
General knowledge
Homologs : HomoloGeneLRRK2
Homology/Alignments : Family Browser (UCSC)LRRK2
Phylogenetic Trees/Animal Genes : TreeFamLRRK2
Chemical/Protein Interactions : CTD120892
Chemical/Pharm GKB GenePA134968052
Clinical trialLRRK2
Cancer Resource (Charite)ENSG00000188906
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineLRRK2
GoPubMedLRRK2
iHOPLRRK2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 20 19:35:18 CEST 2015

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.