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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LRRK2 Gene

protein-coding   GIFtS: 66
GCID: GC12P040590

Leucine-Rich Repeat Kinase 2

(Previous name: Parkinson disease (autosomal dominant) 8)
(Previous symbol: PARK8)
Alzheimer's & Parkinson's Diseases Congress
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Aliases
for LRRK2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
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


Summaries
for LRRK2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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's disease, and among its related super-pathways are Electron Transport Chain and Wnt Signaling Pathway. GO annotations related to this gene include protein homodimerization activity and identical protein binding. 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences 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 plasmid: LRRK2 promoter sequence
   Search SABiosciences Chromatin IP Primers for LRRK2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for LRRK2 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Mitochondrion. Note=Localized in the cytoplasm
and associated with cellular membrane structures. Associates with the mitochondrial outer membrane
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:

  • UniProtKB: Autophosphorylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5S007

    • LRRK2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LRRK2 Protein Expression
    REFSEQ proteins: NP_940980.3  
    ENSEMBL proteins: 
     ENSP00000398726   ENSP00000341930   ENSP00000298910   ENSP00000410821  

    Human Recombinant Protein Products for LRRK2: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LRRK2 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA16321986
    GO:0005739mitochondrion IDA--
    GO:0005802trans-Golgi network IEA--
    GO:0005886plasma membrane IEA--

    LRRK2 for ontologies           About GeneDecksing



    LRRK2 Antibody Products: 
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    Protein Domains /
    Families
    for LRRK2 gene

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

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

    5/18 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


    LRRK2 for domains           About GeneDecksing


    Function
    for LRRK2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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): 5/17 molecular function terms (GO ID links to tree view) (see all 17):    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 ----
         
    LRRK2 for ontologies           About GeneDecksing


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

         14 MGI mutant phenotypes (inferred from 12 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  pigmentation  renal/urinary system  respiratory system 

    LRRK2 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for LRRK2: Lrrk2tm1Mjfa Lrrk2tm1.1Cai Lrrk2tm1Tmd Lrrk2tm2.1Shn Lrrk2tm1.1Mjff Lrrk2tm1.1Npa
                                                   Lrrk2tm1Arte Lrrk2tm3.1Shn
       inGenious Targeting Laboratory - Custom generated mouse model solutions for LRRK2 
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    miRNA
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    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 plasmid: LRRK2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for potent knockdown of LRRK2

    Clone
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRK2


    Pathways & Interactions
    for LRRK2 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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 disease0.61
    2Wnt Signaling Pathway
    		Wnt Signaling Pathway and Pluripotency0.55
    3MAPK signaling pathway
    		MAPK signaling pathway0.50
    4Neuroscience
    		Neuroscience
    5Parkinsons Disease Pathway
    		Parkinsons Disease Pathway

    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


    LRRK2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LRRK2

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

    5/81 Interacting proteins for LRRK2 (Q5S0071, 2, 3 ENSP000002989104) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARK2O602601, 3, ENSP000003558654EBI-5323863,EBI-716346 I2D: score=1 STRING: ENSP00000355865
    AKT1P317492, 3, ENSP000002702024MINT-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): 5/35 biological process terms (GO ID links to tree view) (see all 35):    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--

    LRRK2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for LRRK2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LRRK2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about LRRK2

    Transcripts
    for LRRK2 gene

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    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 

    24/53 AceView cDNA sequences (see all 53):

    AA741317 AW772282 BU634341 BF942699 AK131537 AA906444 BF331667 AW237822 
    BM280361 AK122640 AL834529 AK127729 BX119871 AA827621 AL832453 AW118991 
    AA969634 AK026776 AI831901 CA412261 BM998398 AI952066 AA384842 CA406939 

    GeneLoc Exon Structure


    Expression
    for LRRK2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LRRK2 expression in normal human tissues (normalized intensities)      LRRK2 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Thalamus
             Septum
     
     Spinal Cord (Nervous System)    fully expand to see all 4 entries
             Dorsal Horn
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle

    See LRRK2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LRRK2

    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

        SABiosciences Expression via Pathway-Focused PCR Array including LRRK2: 
              Parkinson's Disease in human mouse rat

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRRK2

    Orthologs
    for LRRK2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for LRRK2 gene from 6/13 species (see all 13)    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 LOC4278441 leucine-rich repeat serine/threonine-protein kinase more 73.19(n)
    72.81(a)    		   427844  XM_003640340.1  XP_003640388.1 
    lizard
    (Anolis carolinensis)    		 Reptilia LRRK26
    		 leucine-rich repeat kinase 2
    		 72(a)
    		 1 ↔ 1
    		 5(98165490-98290914)
    zebrafish
    (Danio rerio)    		 Actinopterygii lrrk21 leucine-rich repeat kinase 2 55.38(n)
    49.4(a)    		   559366  NM_001201456.1  NP_001188385.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Lrrk6
    		 Leucine-rich repeat kinase
    		 17(a)
    		 1 → many
    		 3R(16461910-16469856)
    worm
    (Caenorhabditis elegans)    		 Secernentea lrk-16
    		 Leucine-rich repeat serine/threonine-protein kinas...
    		 17(a)
    		 1 → many
    		 I(10879766-10894237)


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

    Paralogs
    for LRRK2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    LRRK2 for paralogs           About GeneDecksing



    Genomic Variants
    for LRRK2 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4095 SNPs in LRRK2 are shown (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
    ----------
    VAR_0249384
    		Parkinson disease 8 (PARK8)4--see VAR_0249382 R Q mis40--------
    VAR_0406794
    		An ovarian serous carcinoma sample4--see VAR_0406792 R P mis40--------
    VAR_0547454
    		Parkinson disease 8 (PARK8)4--see VAR_0547452 R L mis40--------
    VAR_0547504
    		Parkinson disease 8 (PARK8)4--see VAR_0547502 L H mis40--------
    VAR_0406784
    		An ovarian mucinous carcinoma sample4--see VAR_0406782 R Q mis40--------
    VAR_0547474
    		Parkinson disease 8 (PARK8)4--see VAR_0547472 T M mis40--------
    VAR_0547444
    		Parkinson disease 8 (PARK8)4--see VAR_0547442 R H mis40--------
    VAR_0547414
    		Parkinson disease 8 (PARK8)4--see VAR_0547412 M V mis40--------
    VAR_0547484
    		Parkinson disease 8 (PARK8)4--see VAR_0547482 R H mis40--------
    VAR_0249634
    		Parkinson disease 8 (PARK8)4--see VAR_0249632 T I mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 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
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LRRK2
    DNA2.0 Custom Variant and Variant Library Synthesis for LRRK2

    Disorders / Diseases
    for LRRK2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    LRRK2 for disorders           About GeneDecksing

    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

    20/27 diseases for LRRK2 (see all 27):    About MalaCards
    lrrk2-related parkinson disease    parkinson's disease    tremor    essential tremor
    primary progressive aphasia    aphasia    tauopathy    multiple system atrophy
    lewy body dementia    frontotemporal dementia    dementia    progressive supranuclear palsy
    rheumatoid arthritis    arthritis    leprosy    spondylitis
    ankylosing spondylitis    skin cancer    amyotrophic lateral sclerosis    lateral sclerosis

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

    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/18 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
    LRRK2-Related Parkinson Disease
    Parkinson Disease

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

    Export disorders for LRRK2 gene to outside databases

    Publications
    for LRRK2 gene

    (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)
    About This Section

    PubMed articles for LRRK2 gene, integrated from 9 sources (see all 616):
    (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. (2005)
    2. LRRK2 mutations are not common in Alzheimer's disease. (PubMed id 16087219)1, 2, 4, 9 Toft M....Farrer M.J. (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. (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. (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. (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. (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. (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. (2005)
    9. A common LRRK2 mutation in idiopathic Parkinson's disease. (PubMed id 15680457)1, 2, 4, 9 Gilks W.P.... Wood N.W. (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. (2007)

    External Searches for LRRK2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing LRRK2 gene

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

    Other Databases showing LRRK2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing LRRK2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LRRK2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LRRK2

    Intellectual Property
    for LRRK2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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