Aliases for LRRK2 Gene
Aliases for LRRK2 Gene
External Ids for LRRK2 Gene
- HGNC: 18618
- Entrez Gene: 120892
- Ensembl: ENSG00000188906
- OMIM: 609007
- UniProtKB: Q5S007
Previous HGNC Symbols for LRRK2 Gene
- PARK8
Previous GeneCards Identifiers for LRRK2 Gene
- GC00U914055
- GC12P038908
- GC12P040590
- GC12P037646
Summaries 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 Parkinson Disease 8, Autosomal Dominant and Hereditary Late-Onset Parkinson Disease. Among its related pathways are Wnt Signaling Pathway and Pluripotency and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is LRRK1.
UniProtKB/Swiss-Prot for LRRK2 Gene
-
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. Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner. Regulates neuronal process morphology in the intact central nervous system (CNS). Plays a role in synaptic vesicle trafficking. Phosphorylates PRDX3. Has GTPase activity. May play a role in the phosphorylation of proteins central to Parkinson disease.
-
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. Mutations in LRRK2 are commonly associated with late-onset Parkinson's disease (PD).
Additional gene information for LRRK2 Gene
- Monarch Initiative
- Search for LRRK2 at DataMed
- Search for LRRK2 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRK2 Gene
Genomics for LRRK2 Gene
GeneHancer (GH) Regulatory Elements for LRRK2 Gene
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH12I040223 | Promoter/Enhancer | 2.5 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 596.3 | +28.8 | 28836 | 4.2 | PKNOX1 SIN3A IRF4 ZNF121 GLIS2 ZNF213 ATF7 KLF7 RUNX3 SP3 | LRRK2 ENSG00000225342 LINC02471 ENSG00000229899 | |
GH12I040195 | Enhancer | 0.4 | Ensembl dbSUPER | 559.9 | -1.3 | -1343 | 0.4 | LRRK2 LINC02555 ENSG00000225342 GC12M040154 LINC02471 | ||
GH12I040216 | Enhancer | 0.9 | FANTOM5 Ensembl dbSUPER | 59.5 | +20.3 | 20257 | 0.8 | MYC PRDM1 ATF2 | LRRK2 LINC02471 LOC105369735 ENSG00000225342 | |
GH12I040207 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE dbSUPER | 28.4 | +12.1 | 12080 | 2.8 | CTCF STAT1 NR2F1 ELF1 RELA ZNF217 IKZF1 IKZF2 TCF7L2 | LOC105369735 LRRK2 LINC02471 ENSG00000225342 | |
GH12I040103 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 9.4 | -91.1 | -91061 | 4.3 | PKNOX1 ARID4B SIN3A FEZF1 ZNF48 GLIS2 ZNF143 RUNX3 SP3 RXRA | SLC2A13 LINC02555 LINC02471 LRRK2 RPL30P13 |
Regulatory Element Products
Genomic Locations for LRRK2 Gene
- chr12:40,196,744-40,369,285
- (GRCh38/hg38)
- Size:
- 172,542 bases
- Orientation:
- Plus strand
- chr12:40,590,546-40,763,087
- (GRCh37/hg19)
Genomic View for LRRK2 Gene
- Cytogenetic band:
-
- 12q12 by Ensembl
- 12q12 by Entrez Gene
- 12q12 by HGNC


RefSeq DNA sequence for LRRK2 Gene
Proteins for LRRK2 Gene
-
Protein details for LRRK2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5S007-LRRK2_HUMAN
- Recommended name:
- Leucine-rich repeat serine/threonine-protein kinase 2
- Protein Accession:
- Q5S007
- A6NJU2
- Q6ZS50
- Q8NCX9
Protein attributes for LRRK2 Gene
- Size:
- 2527 amino acids
- Molecular mass:
- 286103 Da
- Quaternary structure:
-
- Homodimer. Interacts with PRKN, PRDX3, RAB29, TPCN2 and VPS35.
Protein Expression for LRRK2 Gene
Post-translational modifications for LRRK2 Gene
- Autophosphorylated.
Other Protein References for LRRK2 Gene
Antibody Products
- R&D Systems Antibodies for LRRK2 (LRRK2)
- Cell Signaling Technology (CST) Antibodies for LRRK2 (LRRK2)
-
Custom Antibody ServicesOriGene Antibodies for LRRK2
- Novus Biologicals Antibodies for LRRK2
-
Abcam antibodies for LRRK2
-
Cloud-Clone Corp. Antibodies for LRRK2
- Invitrogen Antibodies for LRRK2
- GeneTex LRRK2 antibody for LRRK2
-
Santa Cruz Biotechnology (SCBT) Antibodies for LRRK2
Protein Products
-
OriGene Purified Proteins for LRRK2
- Search Origene for MassSpec and Protein Over-expression Lysates for LRRK2
- Origene Custom Protein Services for LRRK2
- Novus Biologicals proteins for LRRK2
-
Cloud-Clone Corp. Proteins for LRRK2
- Search GeneTex for Proteins for LRRK2
-
Abcam proteins for LRRK2
Assay Products
-
Cloud-Clone Corp. Assay Kits for LRRK2
No data available for DME Specific Peptides for LRRK2 Gene
Domains & Families for LRRK2 Gene
Gene Families for LRRK2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for LRRK2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for LRRK2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q5S007UniProtKB/Swiss-Prot:
LRRK2_HUMAN :- The seven-bladed WD repeat region is critical for synaptic vesicle trafficking and mediates interaction with multiple vesicle-associated presynaptic proteins.
- Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
- Domain:
-
- The seven-bladed WD repeat region is critical for synaptic vesicle trafficking and mediates interaction with multiple vesicle-associated presynaptic proteins.
- The Roc domain mediates homodimerization and regulates kinase activity.
- Family:
-
- Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
Function for LRRK2 Gene
Molecular function for LRRK2 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + a protein = ADP + a phosphoprotein.
- UniProtKB/Swiss-Prot Function:
- 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. Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner. Regulates neuronal process morphology in the intact central nervous system (CNS). Plays a role in synaptic vesicle trafficking. Phosphorylates PRDX3. Has GTPase activity. May play a role in the phosphorylation of proteins central to Parkinson disease.
Enzyme Numbers (IUBMB) for LRRK2 Gene
Phenotypes From GWAS Catalog for LRRK2 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000149 | SNARE binding | IPI | 21307259 |
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003779 | actin binding | IPI | 21307259 |
GO:0003924 | GTPase activity | IDA | 21048939 |
GO:0004672 | protein kinase activity | IDA | 16269541 |
Phenotypes for LRRK2 Gene
- MGI mutant phenotypes for LRRK2:
-
inferred from 16 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- integument phenotype
- hematopoietic system phenotype
- skeleton phenotype
- pigmentation phenotype
- renal/urinary system phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for LRRK2:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased transferrin (TF) endocytosis
- Decreased viability with paclitaxel
- Decreased viability
- Decreased shRNA abundance (Z-score < -2)
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased cell proliferation
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Increased Nanog expression
Animal Models for LRRK2 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for LRRK2
- Cyagen custom Knockout/knockin (KOKI) mouse models for LRRK2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for LRRK2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for LRRK2 gene
- Search ViGene Biosciences for LRRK2
CRISPR Products
-
OriGene CRISPR knockouts for LRRK2
- genomics-online: gRNA clones - Search results for available LRRK2 gene related products
- Applied Biological Materials CRISPR for LRRK2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LRRK2
- GenScript: Design CRISPR guide RNA sequences for LRRK2
miRNA for LRRK2 Gene
- miRTarBase miRNAs that target LRRK2
miRNA Products
- Search ViGene Biosciences for LRRK2
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LRRK2
- Browse OriGene Inhibitory RNA Products For LRRK2
- genomics-online: shRNA clones - Search results for available LRRK2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for LRRK2 gene
Clone Products
-
OriGene ORF clones in human for LRRK2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for LRRK2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LRRK2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for LRRK2
- genomics-online: cdna clones - Search results for available LRRK2 gene related products
- orf clones - Search results for available LRRK2 gene related products
- Applied Biological Materials Clones for LRRK2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for LRRK2
-
ViGene Biosciences adenoviral particle packaged cDNA for LRRK2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for LRRK2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for LRRK2 gene
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LRRK2 Gene
Localization for LRRK2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for LRRK2 Gene
- Membrane; Peripheral membrane protein. Cytoplasm. Perikaryon. Mitochondrion. Golgi apparatus. Cell projection, axon. Cell projection, dendrite. Endoplasmic reticulum. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Endosome. Lysosome. Mitochondrion outer membrane. Mitochondrion inner membrane. Mitochondrion matrix. Note=Predominantly associated with intracytoplasmic vesicular and membranous structures (By similarity). Localized in the cytoplasm and associated with cellular membrane structures. Predominantly associated with the mitochondrial outer membrane of the mitochondria. Colocalized with RAB29 along tubular structures emerging from Golgi apparatus. Localizes in intracytoplasmic punctate structures of neuronal perikarya and dendritic and axonal processes. {ECO:0000250}.
- Nucleus (2)
- Vesicles (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IDA,HDA | 22664934 |
GO:0005622 | intracellular | IMP | 22012985 |
GO:0005634 | nucleus | IDA | -- |
GO:0005737 | cytoplasm | IDA,IEA | 16321986 |
GO:0005739 | mitochondrion | IEA,IDA | 21850687 |
Pathways & Interactions for LRRK2 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by PTK6 | ||
2 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
3 | Neuroscience | ||
4 | Signaling by GPCR | ||
5 | Allograft rejection |
Pathways by source for LRRK2 Gene
1 Cell Signaling Technology pathway for LRRK2 Gene
4 BioSystems pathways for LRRK2 Gene
3 Reactome pathways for LRRK2 Gene
1 KEGG pathway for LRRK2 Gene
Interacting Proteins for LRRK2 Gene
SIGNOR curated interactions for LRRK2 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | IDA | 17200152 |
GO:0000186 | activation of MAPKK activity | IDA | 19302196 |
GO:0000187 | activation of MAPK activity | IMP | 21857923 |
GO:0001933 | negative regulation of protein phosphorylation | ISS,IEA | -- |
GO:0001934 | positive regulation of protein phosphorylation | IDA,IMP | 20659558 |
Drugs & Compounds for LRRK2 Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 | |||
ATP | Investigational | Nutra | Agonist | 0 | ||
CZC 54252 hydrochloride | Pharma | Potent LRRK2 inhibitor; neuroprotective | 0 | |||
GSK2578215A | Pharma | Potent, selective LRRK2 inhibitor; brain penetrant | 0 | |||
LRRK2-IN-1 | Pharma | LRRK2 inhibitor,cell-permeable and ATP competitive, Potent and selective LRRK2 inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Full agonist, Agonist | 58-64-0 |
|
(5) Tocris Compounds for LRRK2 Gene
Compound | Action | Cas Number |
---|---|---|
CZC 54252 hydrochloride | Potent LRRK2 inhibitor; neuroprotective | 1191911-27-9 |
GSK2578215A | Potent, selective LRRK2 inhibitor; brain penetrant | 1285515-21-0 |
LRRK2-IN-1 | Potent and selective LRRK2 inhibitor | 1234480-84-2 |
MLi-2 | Potent and selective LRRK2 inhibitor | 1627091-47-7 |
PF 06447475 | Potent LRRK2 inhibitor; neuroprotective | 1527473-33-1 |
(10) ApexBio Compounds for LRRK2 Gene
Compound | Action | Cas Number |
---|---|---|
CZC 54252 hydrochloride | 1191911-27-9 | |
CZC-25146 | LRRK2 inhibitor | 1191911-26-8 |
GNE0877 | Potent and selective LRRK2 inhibitor | 1374828-69-9 |
GNE-7915 | Potent and selective LRRK2 inhibitor | 1351761-44-8 |
GNE-7915 tosylate | ||
GNE-9605 | 1536200-31-3 | |
GSK2578215A | 1285515-21-0 | |
HG-10-102-01 | LRRK2 inhibitor | 1351758-81-0 |
LRRK2-IN-1 | LRRK2 inhibitor,cell-permeable and ATP competitive | 1234480-84-2 |
PF-06447475 | 1527473-33-1 |
Transcripts for LRRK2 Gene
mRNA/cDNA for LRRK2 Gene
- (9) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (53) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for LRRK2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for LRRK2
- genomics-online: gRNA clones - Search results for available LRRK2 gene related products
- Applied Biological Materials CRISPR for LRRK2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LRRK2
- GenScript: Design CRISPR guide RNA sequences for LRRK2
miRNA Products
- Search ViGene Biosciences for LRRK2
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LRRK2
- Browse OriGene Inhibitory RNA Products For LRRK2
- genomics-online: shRNA clones - Search results for available LRRK2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for LRRK2 gene
Clone Products
-
OriGene ORF clones in human for LRRK2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for LRRK2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LRRK2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for LRRK2
- genomics-online: cdna clones - Search results for available LRRK2 gene related products
- orf clones - Search results for available LRRK2 gene related products
- Applied Biological Materials Clones for LRRK2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for LRRK2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Oligodendrocyte Precursor Cells Forebrain White Matter
- Hypothalamus
- Hippocampus
- Thalamus
- Cerebellum
-
Ovary (Reproductive System)
- Cumulus Cells Antral Follicle
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
-
Spinal Cord (Nervous System)
mRNA differential expression in normal tissues according to GTEx for LRRK2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LRRK2 Gene
NURSA nuclear receptor signaling pathways regulating expression of LRRK2 Gene:
LRRK2SOURCE GeneReport for Unigene cluster for LRRK2 Gene:
Hs.187636mRNA Expression by UniProt/SwissProt for LRRK2 Gene:
Q5S007-LRRK2_HUMANEvidence on tissue expression from TISSUES for LRRK2 Gene
- Nervous system(4.6)
- Liver(4.1)
- Lung(2.4)
- Blood(2.2)
- Kidney(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRK2 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
- brain
- cerebellum
- ear
- eye
- eyelid
- face
- head
- mouth
- olfactory bulb
- pharynx
- diaphragm
- esophagus
- heart
- lung
- stomach
- urethra
- urinary bladder
- foot
- hand
- lower limb
- upper limb
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for LRRK2
- genomics-online: primer clones - Search results for available LRRK2 gene related products
No data available for Protein tissue co-expression partners for LRRK2 Gene
Orthologs for LRRK2 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | LRRK2 33 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
-- 34 |
|
OneToMany | |||
-- 34 |
|
OneToMany | |||
dog (Canis familiaris) |
Mammalia | LRRK2 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | LRRK2 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Lrrk2 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Lrrk2 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | LRRK2 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | LRRK2 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | LRRK2 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | lrrk2 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | lrrk2 33 34 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Lrrk 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | lrk-1 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for LRRK2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for LRRK2 Gene
(3) SIMAP similar genes for LRRK2 Gene using alignment to 5 proteins:
Variants for LRRK2 Gene
SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1060499538 | uncertain-significance, Parkinson disease 8, autosomal dominant | 40,364,927(+) | A/G/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
rs10784548 | benign, Parkinson disease 8, autosomal dominant | 40,368,744(+) | T/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
rs10878245 | conflicting-interpretations-of-pathogenicity, Parkinson disease 8, autosomal dominant | 40,237,989(+) | T/A/C | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
rs10878307 | conflicting-interpretations-of-pathogenicity, Parkinson disease 8, autosomal dominant | 40,278,187(+) | A/G | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
rs10878371 | conflicting-interpretations-of-pathogenicity, Parkinson disease 8, autosomal dominant | 40,322,458(+) | T/C | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, synonymous_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv186e201 | CNV | deletion | 23290073 |
esv1215291 | CNV | deletion | 17803354 |
esv2432211 | CNV | deletion | 19546169 |
esv2454181 | CNV | insertion | 19546169 |
esv2745783 | CNV | deletion | 23290073 |
esv2745786 | CNV | deletion | 23290073 |
esv2745787 | CNV | deletion | 23290073 |
esv3304542 | CNV | mobile element insertion | 20981092 |
esv3309569 | CNV | mobile element insertion | 20981092 |
esv3399810 | CNV | insertion | 20981092 |
esv3437009 | CNV | insertion | 20981092 |
nsv1042967 | CNV | gain | 25217958 |
nsv1048258 | CNV | gain | 25217958 |
nsv1069657 | CNV | deletion | 25765185 |
nsv1113477 | CNV | deletion | 24896259 |
nsv1124724 | CNV | deletion | 24896259 |
nsv1150510 | CNV | insertion | 26484159 |
nsv558598 | CNV | loss | 21841781 |
nsv819273 | CNV | gain | 19587683 |
nsv832377 | CNV | gain | 17160897 |
Additional Variant Information for LRRK2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRK2 Gene
Disorders for LRRK2 Gene

(26) MalaCards diseases for LRRK2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
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parkinson disease 8, autosomal dominant |
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hereditary late-onset parkinson disease |
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parkinson disease, late-onset |
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lrrk2-related parkinson disease |
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parkinson disease 3, autosomal dominant |
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UniProtKB/Swiss-Prot
LRRK2_HUMAN- 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. {ECO:0000269 PubMed:15541308, ECO:0000269 PubMed:15541309, ECO:0000269 PubMed:15680455, ECO:0000269 PubMed:15680456, ECO:0000269 PubMed:15680457, ECO:0000269 PubMed:15726496, ECO:0000269 PubMed:15732108, ECO:0000269 PubMed:15811454, ECO:0000269 PubMed:15852371, ECO:0000269 PubMed:15880653, ECO:0000269 PubMed:15925109, ECO:0000269 PubMed:15929036, ECO:0000269 PubMed:16102999, ECO:0000269 PubMed:16157901, ECO:0000269 PubMed:16157908, ECO:0000269 PubMed:16157909, ECO:0000269 PubMed:16172858, ECO:0000269 PubMed:16240353, ECO:0000269 PubMed:16247070, ECO:0000269 PubMed:16250030, ECO:0000269 PubMed:16251215, ECO:0000269 PubMed:16269541, ECO:0000269 PubMed:16272164, ECO:0000269 PubMed:16272257, ECO:0000269 PubMed:16298482, ECO:0000269 PubMed:16321986, ECO:0000269 PubMed:16333314, ECO:0000269 PubMed:16533964, ECO:0000269 PubMed:17114044, ECO:0000269 PubMed:18213618, ECO:0000269 PubMed:21850687, ECO:0000269 PubMed:22956510, ECO:0000269 PubMed:23395371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for LRRK2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for LRRK2 Gene
Publications for LRRK2 Gene
- Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. (PMID: 18213618) Paisán-Ruíz C … Singleton AB (Human mutation 2008) 3 4 22 44 58
- LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance. (PMID: 16533964) Gaig C … Tolosa E (Archives of neurology 2006) 3 4 22 44 58
- A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations. (PMID: 16157909) Zabetian CP … Griffith A (Neurology 2005) 3 4 22 44 58
- LRRK2 gene in Parkinson disease: mutation analysis and case control association study. (PMID: 16157901) Paisán-Ruíz C … Rogaeva E (Neurology 2005) 3 4 22 44 58
- LRRK2 mutations are not common in Alzheimer's disease. (PMID: 16087219) Toft M … Farrer MJ (Mechanisms of ageing and development 2005) 3 4 22 44 58
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- Mammalian expression: PiggyBac
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Sources for LRRK2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
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- (7) GeneLoc
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- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
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- (77) SIMAP
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