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LRRK2 Gene(Protein Coding)

Leucine Rich Repeat Kinase 2

GCID:
GC12P040196
GIFtS:
58
Genes Participants
UDN Logo

Aliases for LRRK2 Gene

Aliases for LRRK2 Gene

  • Leucine Rich Repeat Kinase 2 2 3 5
  • DARDARIN 3 4
  • PARK8 3 4
  • Leucine-Rich Repeat Serine/Threonine-Protein Kinase 2 3
  • Parkinson Disease (Autosomal Dominant) 8 2
  • Augmented In Rheumatoid Arthritis 17 3
  • EC 2.7.11.1 4
  • AURA17 3
  • RIPK7 3
  • ROCO2 3

External Ids for LRRK2 Gene

Previous HGNC Symbols for LRRK2 Gene

  • PARK8

Previous GeneCards Identifiers for LRRK2 Gene

  • GC00U914055
  • GC12P038908
  • GC12P040590
  • GC12P037646

Summaries for LRRK2 Gene

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 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.

Tocris 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. Mutations in LRRK2 are commonly associated with late-onset Parkinson's disease (PD).

Gene Wiki entry for LRRK2 Gene

Additional gene information for LRRK2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRK2 Gene

Genomics for LRRK2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for LRRK2 Gene

Promoters and enhancers 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
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LRRK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LRRK2 gene promoter:

Genomic Locations for LRRK2 Gene

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

Genes around LRRK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRK2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for LRRK2 Gene

Proteins for LRRK2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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
    Secondary Accessions:
    • 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.

    Three dimensional structures from OCA and Proteopedia for LRRK2 Gene

neXtProt entry for LRRK2 Gene

Protein Expression for LRRK2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for LRRK2 Gene

Other Protein References for LRRK2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LRRK2 (LRRK2)
  • Abcam antibodies 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

Q5S007

UniProtKB/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.
genes like me logo Genes that share domains with LRRK2: view

Function for LRRK2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with LRRK2: view
genes like me logo Genes that share phenotypes with LRRK2: view

Animal Models for LRRK2 Gene

MGI Knock Outs for LRRK2:

Animal Model Products

CRISPR Products

miRNA for LRRK2 Gene

miRTarBase miRNAs that target LRRK2

Inhibitory RNA Products

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRRK2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
lysosome 5
golgi apparatus 5
endosome 5
plasma membrane 4
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRRK2 Gene

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
genes like me logo Genes that share ontologies with LRRK2: view

Pathways & Interactions for LRRK2 Gene

genes like me logo Genes that share pathways with LRRK2: view

Pathways by source for LRRK2 Gene

1 Cell Signaling Technology pathway for LRRK2 Gene
1 KEGG pathway for LRRK2 Gene

SIGNOR curated interactions for LRRK2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process 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
genes like me logo Genes that share ontologies with LRRK2: view

Drugs & Compounds for LRRK2 Gene

Products:

  1. Drug

(17) Drugs for LRRK2 Gene - From: ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

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

(3) Additional Compounds for LRRK2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
 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
genes like me logo Genes that share compounds with LRRK2: view

Drug Products

Transcripts for LRRK2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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

Leucine-rich repeat kinase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRK2 Gene

No ASD Table

Relevant External Links for LRRK2 Gene

GeneLoc Exon Structure for
LRRK2
ECgene alternative splicing isoforms for
LRRK2

Expression for LRRK2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRRK2 Gene

mRNA expression in normal human tissues for LRRK2 Gene
mRNA expression by BioGPS for LRRK2 GenemRNA expression by GTEx for LRRK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LRRK2 Gene

This gene is overexpressed in Whole Blood (x12.1) and Lung (x5.5).

Protein differential expression in normal tissues from HIPED for LRRK2 Gene

This gene is overexpressed in Adrenal (45.6) and Kidney (10.9).

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:

LRRK2

SOURCE GeneReport for Unigene cluster for LRRK2 Gene:

Hs.187636

mRNA Expression by UniProt/SwissProt for LRRK2 Gene:

Q5S007-LRRK2_HUMAN
Tissue specificity: Expressed in the brain. Expressed in pyramidal neurons in all cortical laminae of the visual cortex, in neurons of the substantia nigra pars compacta and caudate putamen (at protein level). 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.

Evidence 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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • olfactory bulb
  • pharynx
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • stomach
Pelvis:
  • urethra
  • urinary bladder
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with LRRK2: view

Primer 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.

Orthologs for LRRK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia LRRK2 33 34
  • 99.49 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 97 (a)
 OneToMany
-- 34
  • 85 (a)
 OneToMany
-- 34
  • 69 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia LRRK2 33 34
  • 91.08 (n)
cow
(Bos Taurus)
 Mammalia LRRK2 33 34
  • 90.39 (n)
mouse
(Mus musculus)
 Mammalia Lrrk2 33 16 34
  • 83.27 (n)
rat
(Rattus norvegicus)
 Mammalia Lrrk2 33
  • 83 (n)
oppossum
(Monodelphis domestica)
 Mammalia LRRK2 34
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves LRRK2 33 34
  • 73.11 (n)
lizard
(Anolis carolinensis)
 Reptilia LRRK2 34
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia lrrk2 33
  • 65.86 (n)
zebrafish
(Danio rerio)
 Actinopterygii lrrk2 33 34
  • 55.71 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Lrrk 34
  • 18 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea lrk-1 34
  • 16 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 35 (a)
 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)

Evolution for LRRK2 Gene

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

Paralogs for LRRK2 Gene

Paralogs for LRRK2 Gene

(3) SIMAP similar genes for LRRK2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with LRRK2: view

Variants for LRRK2 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for LRRK2 Gene

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

Variation tolerance for LRRK2 Gene

Residual Variation Intolerance Score: 6.56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.25; 92.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRK2 Gene

Human Gene Mutation Database (HGMD)
LRRK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRK2 Gene

Disorders for LRRK2 Gene

MalaCards: The human disease database

(26) MalaCards diseases for LRRK2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search LRRK2 in MalaCards View complete list of genes associated with diseases

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
genes like me logo Genes that share disorders with LRRK2: view

No data available for Genatlas for LRRK2 Gene

Publications for LRRK2 Gene

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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

Products for LRRK2 Gene

  • Addgene plasmids for LRRK2

Sources for LRRK2 Gene

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