Atlas of Genetics and Cytogenetics in Oncology and Haematology

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LRRK2 (leucine-rich repeat kinase 2)

Identity

Other namesAURA17
DARDARIN
PARK8
RIPK7
ROCO2
HGNC (Hugo) LRRK2
LocusID (NCBI) 120892
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
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)AC_000144 NC_000012 NC_018923 NG_011709 NT_029419 NW_001838057 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  positive regulation of protein phosphorylation  glycoprotein binding  actin binding  GTPase activity  protein kinase activity  protein serine/threonine kinase activity  MAP kinase kinase activity  enzyme inhibitor 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  GTP catabolic process  autophagy  response to oxidative stress  small GTPase mediated signal transduction  neuromuscular junction development  synaptic vesicle  determination of adult lifespan  positive regulation of autophagy  positive regulation of autophagy  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  clathrin binding  axon  axon  dendrite  dendrite  positive regulation of protein ubiquitination  cytoplasmic vesicle  mitochondrial membrane  negative 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  regulation of kidney size  exploration behavior  regulation of locomotion  regulation of membrane potential  identical protein binding  protein homodimerization activity  neuron projection  neuronal cell body  positive regulation of programmed cell death  perikaryon  perikaryon  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  positive regulation of dopamine receptor signaling pathway  regulation of dendritic spine morphogenesis  extracellular vesicular exosome  neuron death  cellular response to organic cyclic compound  regulation of neuron death  regulation of neuroblast proliferation  regulation of synaptic vesicle transport  negative regulation of late endosome to lysosome transport  negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation  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  positive regulation of protein phosphorylation  glycoprotein binding  actin binding  GTPase activity  protein kinase activity  protein serine/threonine kinase activity  MAP kinase kinase activity  enzyme inhibitor 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  GTP catabolic process  autophagy  response to oxidative stress  small GTPase mediated signal transduction  neuromuscular junction development  synaptic vesicle  determination of adult lifespan  positive regulation of autophagy  positive regulation of autophagy  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  clathrin binding  axon  axon  dendrite  dendrite  positive regulation of protein ubiquitination  cytoplasmic vesicle  mitochondrial membrane  negative 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  regulation of kidney size  exploration behavior  regulation of locomotion  regulation of membrane potential  identical protein binding  protein homodimerization activity  neuron projection  neuronal cell body  positive regulation of programmed cell death  perikaryon  perikaryon  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  positive regulation of dopamine receptor signaling pathway  regulation of dendritic spine morphogenesis  extracellular vesicular exosome  neuron death  cellular response to organic cyclic compound  regulation of neuron death  regulation of neuroblast proliferation  regulation of synaptic vesicle transport  negative regulation of late endosome to lysosome transport  negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation  regulation of branching morphogenesis of a nerve  regulation of synaptic vesicle exocytosis  
Pathways : KEGGParkinson's disease   
Protein Interaction DatabaseLRRK2
DoCM (Curated mutations)LRRK2
Wikipedia pathwaysLRRK2
Gene fusion - rearrangements
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 VariantsLRRK2  LRRK2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000188906 
Somatic Mutations in Cancer : COSMICLRRK2 
CONAN: Copy Number AnalysisLRRK2 
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
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
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 23:30:32 CET 2014
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