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 (Hinxton)ENSG00000188906 [Gene_View]  chr12:40618813-40763086 [Contig_View]  LRRK2 [Vega]
ICGC DataPortalENSG00000188906
cBioPortalLRRK2
AceView (NCBI)LRRK2
Genatlas (Paris)LRRK2
WikiGenes120892
SOURCE (Princeton)NM_198578
Genomic and cartography
GoldenPath (UCSC)LRRK2  -  12q12   chr12:40618813-40763086 +  12q12   [Description]    (hg19-Feb_2009)
EnsemblLRRK2 - 12q12 [CytoView]
Mapping of homologs : NCBILRRK2 [Mapview]
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 ]
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 [organisation]   ARM-like [organisation]   ARM-type_fold [organisation]   Kinase-like_dom [organisation]   Leu-rich_rpt [organisation]   Leu-rich_rpt_4 [organisation]   Leu-rich_rpt_typical-subtyp [organisation]   MIRO-like [organisation]   P-loop_NTPase [organisation]   Prot_kinase_dom [organisation]   Protein_kinase_ATP_BS [organisation]   ROC_GTPase [organisation]   Ser/Thr_kinase_AS [organisation]   Small_GTP-bd_dom [organisation]   Small_GTPase [organisation]   WD40/YVTN_repeat-like_dom [organisation]   WD40_repeat [organisation]   WD40_repeat_dom [organisation]  
Related proteins : CluSTrQ5S007
Domain families : Pfam (Sanger)LRR_1 (PF00560)    LRR_4 (PF12799)    Miro (PF08477)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00560    pfam12799    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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ5S007
IPIIPI00175649   IPI00425978   IPI00657922   IPI00794835   IPI00894207   
Protein Interaction databases
DIP (DOE-UCLA)Q5S007
IntAct (EBI)Q5S007
FunCoupENSG00000188906
BioGRIDLRRK2
InParanoidQ5S007
Interologous Interaction database Q5S007
IntegromeDBLRRK2
STRING (EMBL)LRRK2
Ontologies - Pathways
Ontology : AmiGOMAPK cascade  activation of MAPKK activity  activation of MAPK activity  positive regulation of protein phosphorylation  GTPase activity  protein kinase activity  protein serine/threonine kinase activity  MAP kinase kinase activity  GTPase activator activity  protein binding  ATP binding  GTP binding  cytoplasm  mitochondrion  trans-Golgi network  plasma membrane  GTP catabolic process  autophagy  response to oxidative stress  small GTPase mediated signal transduction  negative regulation of neuroblast proliferation  neuromuscular junction development  synaptic vesicle  determination of adult lifespan  positive regulation of autophagy  positive regulation of autophagy  positive regulation of cell death  negative regulation of neuron maturation  tubulin binding  Rho GTPase binding  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  olfactory bulb development  tangential migration from the subventricular zone to the olfactory bulb  positive regulation of protein ubiquitination  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  external 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  positive regulation of GTPase activity  ion channel binding  membrane raft  protein autophosphorylation  protein autophosphorylation  intracellular distribution of mitochondria  positive regulation of dopamine receptor signaling pathway  negative regulation of dendritic spine morphogenesis  neuron death  negative regulation of branching morphogenesis of a nerve  
Ontology : EGO-EBIMAPK cascade  activation of MAPKK activity  activation of MAPK activity  positive regulation of protein phosphorylation  GTPase activity  protein kinase activity  protein serine/threonine kinase activity  MAP kinase kinase activity  GTPase activator activity  protein binding  ATP binding  GTP binding  cytoplasm  mitochondrion  trans-Golgi network  plasma membrane  GTP catabolic process  autophagy  response to oxidative stress  small GTPase mediated signal transduction  negative regulation of neuroblast proliferation  neuromuscular junction development  synaptic vesicle  determination of adult lifespan  positive regulation of autophagy  positive regulation of autophagy  positive regulation of cell death  negative regulation of neuron maturation  tubulin binding  Rho GTPase binding  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  olfactory bulb development  tangential migration from the subventricular zone to the olfactory bulb  positive regulation of protein ubiquitination  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  external 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  positive regulation of GTPase activity  ion channel binding  membrane raft  protein autophosphorylation  protein autophosphorylation  intracellular distribution of mitochondria  positive regulation of dopamine receptor signaling pathway  negative regulation of dendritic spine morphogenesis  neuron death  negative regulation of branching morphogenesis of a nerve  
Pathways : KEGGParkinson's disease   
Protein Interaction DatabaseLRRK2
Wikipedia pathwaysLRRK2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)LRRK2
snp3D : Map Gene to Disease120892
SNP (GeneSNP Utah)LRRK2
SNP : HGBaseLRRK2
Genetic variants : HAPMAPLRRK2
Exome VariantLRRK2
1000_GenomesLRRK2 
ICGC programENSG00000188906 
Somatic Mutations in Cancer : COSMICLRRK2 
CONAN: Copy Number AnalysisLRRK2 
Mutations and Diseases : HGMDLRRK2
Genomic VariantsLRRK2  LRRK2 [DGVbeta]
dbVarLRRK2
ClinVarLRRK2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM607060    609007   
MedgenLRRK2
GENETestsLRRK2
Disease Genetic AssociationLRRK2
Huge Navigator LRRK2 [HugePedia]  LRRK2 [HugeCancerGEM]
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
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 17:04:01 CEST 2014
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