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LRRK2 Gene

protein-coding   GIFtS: 66
GCID: GC12P040590

Leucine-Rich Repeat Kinase 2

(Previous name: Parkinson disease (autosomal dominant) 8)
(Previous symbol: PARK8)
  See LRRK2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Leucine-Rich Repeat Kinase 21 2     ROCO22
PARK81 2 3 5     Augmented In Rheumatoid Arthritis 172
Parkinson Disease (Autosomal Dominant) 81     Leucine-Rich Repeat Serine/Threonine-Protein Kinase 22
AURA172     Dardarin3
DARDARIN2     EC 2.7.11.13
RIPK72     

External Ids:    HGNC: 186181   Entrez Gene: 1208922   Ensembl: ENSG000001889067   OMIM: 6090075   UniProtKB: Q5S0073   

Export aliases for LRRK2 gene to outside databases

Previous GC identifers: GC00U914055 GC12P038908 GC12P037646


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LRRK2 Gene:
This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat
region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a
MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the
mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. (provided by
RefSeq, Jul 2008)

GeneCards Summary for LRRK2 Gene:
LRRK2 (leucine-rich repeat kinase 2) is a protein-coding gene. Diseases associated with LRRK2 include lrrk2-related parkinson disease, and parkinson disease 8. GO annotations related to this gene include GTP binding and protein homodimerization activity. An important paralog of this gene is LRRK1.

UniProtKB/Swiss-Prot: LRRK2_HUMAN, Q5S007
Function: May play a role in the phosphorylation of proteins central to Parkinson disease. Phosphorylates PRDX3.
May also have GTPase activity. Positively regulates autophagy through a calcium-dependent activation of the
CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate
(NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes

summary for LRRK2 Gene:
Leucine-rich repeat kinase 2 (LRRK2), also known as dardarin, is a large multidomain protein kinase that
includes leucine-rich repeats and a GTPase domain. LRRK2 is encoded by the PARK8 gene.

Gene Wiki entry for LRRK2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LRRK2 gene promoter:
         STAT5B   AP-1   Nkx2-2   ATF-2   Ik-3   Meis-1b   c-Jun   Meis-1a   GCNF-2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRRK2 promoter sequence
   Search Chromatin IP Primers for LRRK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LRRK2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q12   Ensembl cytogenetic band:  12q12   HGNC cytogenetic band: 12q12

LRRK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRRK2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P040590:  view genomic region     (about GC identifiers)

Start:
40,590,546 bp from pter      End:
40,763,087 bp from pter
Size:
172,542 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: LRRK2_HUMAN, Q5S007 (See protein sequence)
Recommended Name: Leucine-rich repeat serine/threonine-protein kinase 2  
Size: 2527 amino acids; 286103 Da
Subunit: Homodimer. Interacts with PARK2. Interacts with PRDX3. Interacts with TPCN2
2 PDB 3D structures from and Proteopedia for LRRK2:
2ZEJ (3D)        3D6T (3D)    
Secondary accessions: A6NJU2 Q6ZS50 Q8NCX9

Explore the universe of human proteins at neXtProt for LRRK2: NX_Q5S007

Explore proteomics data for LRRK2 at MOPED

Post-translational modifications: 

  • Autophosphorylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See LRRK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_940980.3  
    ENSEMBL proteins: 
     ENSP00000398726   ENSP00000341930   ENSP00000298910   ENSP00000410821  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PARK: Parkinson disease

    IUPHAR Guide to PHARMACOLOGY protein family classification: leucine-rich repeat kinase 2
    Leucine-rich repeat kinase (LRRK) family

    Selected InterPro protein domains (see all 18):
     IPR017441 Protein_kinase_ATP_BS
     IPR011989 ARM-like
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4
     IPR013684 MIRO-like

    Graphical View of Domain Structure for InterPro Entry Q5S007

    ProtoNet protein and cluster: Q5S007

    2 Blocks protein domains:
    IPB000408 Regulator of chromosome condensation
    IPB013684 Miro-like


    UniProtKB/Swiss-Prot: LRRK2_HUMAN, Q5S007
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family
    Similarity: Contains 12 LRR (leucine-rich) repeats
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 Roc domain


    Find genes that share domains with LRRK2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LRRK2_HUMAN, Q5S007
    Function: May play a role in the phosphorylation of proteins central to Parkinson disease. Phosphorylates PRDX3.
    May also have GTPase activity. Positively regulates autophagy through a calcium-dependent activation of the
    CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate
    (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Number (IUBMB): EC 2.7.11.11

         Gene Ontology (GO): 18 molecular function terms (see first 5):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA--
    GO:0004672protein kinase activity IDA16269541
    GO:0004674protein serine/threonine kinase activity IDA17200152
    GO:0004708MAP kinase kinase activity IDA19302196
    GO:0004713protein tyrosine kinase activity ----
    GO:0005096GTPase activator activity IDA17442267
    GO:0005488binding ----
    GO:0005515protein binding IPI16321986
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding IDA16980962
    GO:0015631tubulin binding IDA--
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
    GO:0017048Rho GTPase binding IPI--
    GO:0034211GTP-dependent protein kinase activity IMP17200152
    GO:0042802identical protein binding IPI16321986
    GO:0042803protein homodimerization activity IPI16321986
    GO:0044325ion channel binding IPI--
    GO:0051018protein kinase A binding IPI--
         
    Find genes that share ontologies with LRRK2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for LRRK2:
     Decreased viability with pacli  Upregulation of Wnt/beta-caten 

         15 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Lrrk2):
     behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  nervous system 
     no phenotypic analysis  normal  pigmentation  renal/urinary system  respiratory system 

    Find genes that share phenotypes with LRRK2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for LRRK2: Lrrk2tm1Mjfa Lrrk2tm1.2Npa Lrrk2tm1.1Mjff Lrrk2tm1.1Npa Lrrk2tm1.1Cai Lrrk2tm1Tmd
                                                         Lrrk2tm2.1Shn Lrrk2tm3.1Shn Lrrk2tm1Arte

       genOway: Develop your customized and physiologically relevant rodent model for LRRK2

    miRNA
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    Block miRNA regulation of human, mouse, rat LRRK2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LRRK2 (see all 17):
    hsa-miR-607 hsa-miR-181c hsa-miR-301a hsa-miR-130b hsa-miR-181b hsa-miR-301b hsa-miR-205 hsa-miR-181a
    SwitchGear 3'UTR luciferase reporter plasmidLRRK2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LRRK2_HUMAN, Q5S007: Cytoplasm. Membrane; Peripheral membrane protein. Mitochondrion. Note=Localized in the
    cytoplasm and associated with cellular membrane structures. Associates with the mitochondrial outer membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus3
    cytoskeleton2
    lysosome2
    plasma membrane2
    vacuole2
    cytosol1
    endosome1
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA16321986
    GO:0005739mitochondrion IDA--
    GO:0005802trans-Golgi network IEA--

    Find genes that share ontologies with LRRK2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LRRK2 About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.57
    2Wnt Signaling Pathway (WikiPathways)
    Wnt Signaling Pathway and Pluripotency0.55
    3MAPK signaling pathway
    MAPK signaling pathway0.50
    4Parkinsons Disease Pathway
    Parkinsons Disease Pathway
    5Neuroscience
    Neuroscience


    Find genes that share SuperPaths with LRRK2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for LRRK2
        Neuroscience

    3 BioSystems Pathways for LRRK2
        MAPK signaling pathway
    Wnt Signaling Pathway and Pluripotency
    Parkinsons Disease Pathway


    1 Kegg Pathway  (Kegg details for LRRK2):
        Parkinson's disease

        Pathway & Disease-focused RT2 Profiler PCR Array including LRRK2: 
              Parkinson's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LRRK2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LRRK2 (Q5S0071, 2, 3 ENSP000002989104) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARK2O602601, 3, ENSP000003558654EBI-5323863,EBI-716346 I2D: score=1 STRING: ENSP00000355865
    AKT1P317491, 2, 3, ENSP000002702024EBI-5323863,EBI-296087 MINT-8177975 MINT-8177865 MINT-8177888 MINT-8177907 MINT-8177924 MINT-8177954 I2D: score=1 STRING: ENSP00000270202
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 40):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade IDA17200152
    GO:0000186activation of MAPKK activity IDA19302196
    GO:0000187activation of MAPK activity IDA19302196
    GO:0001934positive regulation of protein phosphorylation IMP--
    GO:0006184GTP catabolic process IDA--

    Find genes that share ontologies with LRRK2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for LRRK2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CZC 54252 hydrochloridePotent LRRK2 inhibitor; neuroprotective[1191911-27-9]
    GSK2578215A Potent, selective LRRK2 inhibitor; brain penetrant [1285515-21-0]
    LRRK2-IN-1Potent and selective LRRK2 inhibitor[1234480-84-2]

    3 HMDB Compounds for LRRK2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    4 Novoseek inferred chemical compound relationships for LRRK2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    levodopa 35.6 2 17614947 (1), 17427941 (1)
    gtp 35.3 13 17260967 (4), 17706965 (2), 16980962 (1), 19712061 (1) (see all 5)
    dopamine 26.1 6 19625511 (2), 17625107 (1), 19726410 (1), 18272292 (1) (see all 5)
    lipid 1.83 7 17341485 (4)



    Find genes that share compounds with LRRK2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LRRK2 gene: 
    NM_198578.3  

    Unigene Cluster for LRRK2:

    Leucine-rich repeat kinase 2
    Hs.187636  [show with all ESTs]
    Unigene Representative Sequence: NM_198578
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000416796 ENST00000343742(uc001rmh.1) ENST00000298910(uc001rmg.4)
    ENST00000474202 ENST00000430804(uc009zjw.3) ENST00000479187(uc001rmi.3)
    ENST00000481256
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      QuantiFast Probe-based Assays in human, mouse, rat LRRK2

    Additional mRNA sequence: 

    AK026776.1 AK122640.1 AK127729.1 AK131537.1 AL832453.2 AL834529.1 AY792511.1 BC117180.1 
    BX640975.1 EF212257.1 

    8 DOTS entries:

    DT.92042415  DT.301521  DT.91844472  DT.95116671  DT.91980049  DT.408537  DT.95338047  DT.65285196 

    Selected AceView cDNA sequences (see all 53):

    AK122640 BU634341 BM280361 AL834529 AW772282 AA906444 BF331667 BF942699 
    AA827621 BX119871 AK127729 AK131537 AA741317 AW237822 AL832453 AW118991 
    BX640975 AV705213 BQ437477 BM998398 AI952066 AA384842 BX499147 AI831901 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LRRK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    LRRK2 Expression
    About this image


    LRRK2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Oligodendrocyte Precursor Cells Forebrain White Matter
             Thalamus
             Septum   
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Spinal Cord (Nervous System)
    LRRK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LRRK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.187636

    UniProtKB/Swiss-Prot: LRRK2_HUMAN, Q5S007
    Tissue specificity: Expressed throughout the adult brain, but at a lower level than in heart and liver. Also
    expressed in placenta, lung, skeletal muscle, kidney and pancreas. In the brain, expressed in the cerebellum,
    cerebral cortex, medulla, spinal cord occipital pole, frontal lobe, temporal lobe and putamen. Expression is
    particularly high in brain dopaminoceptive areas

        Pathway & Disease-focused RT2 Profiler PCR Array including LRRK2: 
              Parkinson's Disease in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for LRRK2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lrrk21 , 5 leucine-rich repeat kinase 21, 5 83.27(n)1
    86.69(a)1
      15 (46.07 cM)5
    667251  NM_025730.31  NP_080006.31 
     916731755 
    chicken
    (Gallus gallus)
    Aves LRRK21 leucine-rich repeat kinase 2 73.11(n)
    72.73(a)
      427844  XM_003640340.2  XP_003640388.2 
    lizard
    (Anolis carolinensis)
    Reptilia LRRK26
    leucine-rich repeat kinase 2
    72(a)
    1 ↔ 1
    5(98165490-98290914)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lrrk21 leucine-rich repeat kinase 2 65.86(n)
    63.5(a)
      100145062  XM_002932204.2  XP_002932250.2 
    zebrafish
    (Danio rerio)
    Actinopterygii lrrk21 leucine-rich repeat kinase 2 55.71(n)
    49.76(a)
      559366  NM_001201456.1  NP_001188385.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lrrk6
    Leucine-rich repeat kinase
    18(a)
    1 → many
    3R(16461910-16469856)
    worm
    (Caenorhabditis elegans)
    Secernentea lrk-16
    Protein LRK-1 (lrk-1) mRNA, complete cds
    16(a)
    1 → many
    I(10879766-10894237) WBGene00003068


    ENSEMBL Gene Tree for LRRK2 (if available)
    TreeFam Gene Tree for LRRK2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LRRK2 gene
    LRRK12  
    3 SIMAP similar genes for LRRK2 using alignment to 5 protein entries:     LRRK2_HUMAN (see all proteins):
    DKFZp686E15222    AURA17    STK11

    Find genes that share paralogs with LRRK2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LRRK2 (see all 4095)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs348056041,2,,4
    CParkinson disease 8 (PARK8)4 pathogenic140537151(+) CAGGGA/GTATGC 2 I V mis12Minor allele frequency- G:0.00NA 4
    rs339399271,2,,4
    CParkinson disease 8 (PARK8)4 pathogenic140548463(+) AGGCTC/G/TGCGCT 3 R G C mis12NA 4
    rs349953761,2,,4
    CParkinson disease 8 (PARK8)4 pathogenic140548464(+) GGCTCG/ACGCTT 2 /H /R mis12Minor allele frequency- A:0.00NA 4
    rs355070331,2,,4
    C,FParkinson disease 8 (PARK8)4 unknown140552005(+) GATCCG/AAGATC 2 /Q /R mis15Minor allele frequency- A:0.01NA EU 5723
    rs339589061,2,,4
    C,FParkinson disease 8 (PARK8)4 unknown140552088(+) ATGTGC/TCAATT 2 P S mis15Minor allele frequency- T:0.02NA EU 5954
    rs7217101,2,,4
    C,HParkinson disease 8 (PARK8)4 unknown140553295(+) CTTTGT/AGGAAC 2 /E /V mis1 ese37Minor allele frequency- A:0.00NA NS EA 504
    rs358014181,2,,4
    CParkinson disease 8 (PARK8)4 pathogenic140559141(+) GCCTTA/GTTTTC 2 Y C mis11Minor allele frequency- G:0.00NA 2
    rs356027961,2,,4
    CParkinson disease 8 (PARK8)4 unknown140561284(+) TATTAT/CGTTGA 2 /T /M mis13Minor allele frequency- C:0.01NA 124
    rs340156341,2,,4
    CParkinson disease 8 (PARK8)4 unknown140578409(+) CATCAT/CTGCAA 2 /T /I mis11Minor allele frequency- C:0.00NA 2
    rs346375841,2,,4
    C,FParkinson disease 8 (PARK8)4 pathogenic140578429(+) ACTACG/AGCATT 2 /S /G mis14Minor allele frequency- A:0.00NA EU 5875

    HapMap Linkage Disequilibrium report for LRRK2 (40590546 - 40763087 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for LRRK2 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745783CNV Deletion23290073
    esv2432211CNV Deletion19546169
    esv2745786CNV Deletion23290073
    esv2745787CNV Deletion23290073
    dgv205e201CNV Deletion23290073
    esv1215291CNV Deletion17803354
    esv2454181CNV Insertion19546169
    esv273841CNV Insertion20981092
    esv274613CNV Insertion20981092
    esv268820CNV Insertion20981092

    Human Gene Mutation Database (HGMD): LRRK2
    Locus Specific Mutation Databases (LSDB): LRRK2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LRRK2
    DNA2.0 Custom Variant and Variant Library Synthesis for LRRK2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609007   
    OMIM disorders: 607060  
    UniProtKB/Swiss-Prot: LRRK2_HUMAN, Q5S007
  • Parkinson disease 8 (PARK8) [MIM:607060]: A slowly progressive neurodegenerative disorder characterized
    by bradykinesia, rigidity, resting tremor, postural instability, neuronal loss in the substantia nigra, and the
    presence of neurofibrillary MAPT (tau)-positive and Lewy bodies in some patients. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 9 diseases for LRRK2:    
    About MalaCards
    lrrk2-related parkinson disease    parkinson disease 8    essential tremor    tremor
    primary progressive aphasia    parkinson's disease    movement disease    parkinson disease 1
    rheumatoid arthritis

    4 diseases from the University of Copenhagen DISEASES database for LRRK2:
    Parkinson's disease     Movement disease     Lewy body dementia     Multiple system atrophy

    Find genes that share disorders with LRRK2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for LRRK2 gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinson disease, autosomal dominant 95 56 17222106 (2), 15680455 (1), 19357115 (1), 15732108 (1) (see all 26)
    parkinson disease 91.5 414 18322396 (5), 17419834 (4), 19804413 (4), 16272164 (4) (see all 99)
    autosomal dominant parkinsonism 88.3 11 15726496 (2), 17116211 (1), 16172858 (1), 15680456 (1) (see all 7)
    parkinsonism 87.1 86 16406842 (3), 15541309 (2), 16966501 (2), 16781064 (2) (see all 52)
    lewy body disease 74.9 7 17611037 (2), 17713120 (1), 19680143 (1), 19878656 (1)
    movement disorders 72.8 3 16250030 (1), 19205068 (1), 18704525 (1)
    neurodegenerative diseases 66.7 15 19680143 (2), 15541309 (1), 19879924 (1), 18214993 (1) (see all 10)
    neurodegeneration 63.1 24 17200152 (2), 17400507 (2), 19176810 (2), 17611037 (2) (see all 14)
    multiple system atrophy 57.3 5 18936941 (2), 19513331 (1), 16602113 (1), 17230458 (1) (see all 5)
    frontotemporal dementia 47.4 8 17151837 (2), 19142648 (1), 18759352 (1)

    GeneTests: LRRK2
    GeneReviews: LRRK2
    Genetic Association Database (GAD): LRRK2
    Human Genome Epidemiology (HuGE) Navigator: LRRK2 (182 documents)

    Export disorders for LRRK2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LRRK2 gene, integrated from 10 sources (see all 634):
    (articles sorted by number of sources associating them with LRRK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. LRRK2 gene in Parkinson disease: mutation analysis and case control association study. (PubMed id 16157901)1, 2, 4, 9 Paisan-Ruiz C....Rogaeva E. (Neurology 2005)
    2. LRRK2 mutations are not common in Alzheimer's disease. (PubMed id 16087219)1, 2, 4, 9 Toft M....Farrer M.J. (Mech. Ageing Dev. 2005)
    3. LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance. (PubMed id 16533964)1, 2, 4, 9 Gaig C....Tolosa E. (Arch. Neurol. 2006)
    4. Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. (PubMed id 18213618)1, 2, 4, 9 Paisan-Ruiz C.... Singleton A.B. (Hum. Mutat. 2008)
    5. A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations. (PubMed id 16157909)1, 2, 4, 9 Zabetian C.P.... Griffith A. (Neurology 2005)
    6. Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics. (PubMed id 16250030)1, 2, 4, 9 Kay D.M.... Payami H. (Mov. Disord. 2006)
    7. The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor. (PubMed id 16272257)1, 2, 4, 9 Goldwurm S.... Bonifati V. (J. Med. Genet. 2005)
    8. Clinical features of LRRK2-associated Parkinson's disease in central Norway. (PubMed id 15852371)1, 2, 4, 9 Aasly J.O.... Farrer M.J. (Ann. Neurol. 2005)
    9. A common LRRK2 mutation in idiopathic Parkinson's disease. (PubMed id 15680457)1, 2, 4, 9 Gilks W.P.... Wood N.W. (Lancet 2005)
    10. The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence. (PubMed id 17019612)1, 2, 4 Tan E.K.... Liu J.J. (Hum. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 120892 HGNC: 18618 AceView: DKFZp434H2111 Ensembl:ENSG00000188906 euGenes: HUgn120892
    ECgene: LRRK2 Kegg: 120892 H-InvDB: LRRK2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LRRK2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LRRK2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LRRK2 gene:
    Search GeneIP for patents involving LRRK2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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