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LRRK2 leucine-rich repeat kinase 2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_198578 Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. GenEZ ORF Cloning On-demand $3749.00 35
XM_005268629 PREDICTED: Homo sapiens leucine-rich repeat kinase 2 (LRRK2), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $3749.00 35

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Gene Symbol LRRK2
Entrez Gene ID 120892
Full Name leucine-rich repeat kinase 2
Synonyms AURA17, DARDARIN, PARK8, RIPK7, ROCO2
General protein information
Preferred Names
leucine-rich repeat serine/threonine-protein kinase 2
Names
leucine-rich repeat serine/threonine-protein kinase 2
augmented in rheumatoid arthritis 17
NP_940980.3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12q12

Summary 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].
Disorder

MIM: 609007

Parkinson disease-8, 607060 (3)

mRNA Protein Product Sequence Price Select
NM_198578, 171846277 NP_940980, 171846278 leucine-rich repeat serine/threonine-protein kinase 2 ORF Sequence $3500.00
XM_005268629, 530399724 XP_005268686, 530399725 leucine-rich repeat serine/threonine-protein kinase 2 isoform X1 ORF Sequence $3500.00
KEGG
hsa05012Parkinson's disease
WikiPathways
WP382MAPK signaling pathway
WP399Wnt Signaling Pathway and Pluripotency
WP2371Parkinsons Disease Pathway
Homo sapiens (human)LRRK2NP_940980.3
Pan troglodytes (chimpanzee)LRRK2XP_001168494.1
Macaca mulatta (Rhesus monkey)LRRK2XP_002798616.1
Canis lupus familiaris (dog)LRRK2XP_543734.3
Bos taurus (cattle)LRRK2NP_001193015.1
Mus musculus (house mouse)Lrrk2NP_080006.3
Rattus norvegicus (Norway rat)Lrrk2NP_001178718.1
Gallus gallus (chicken)LRRK2XP_003640388.2
Danio rerio (zebrafish)lrrk2NP_001188385.1
Xenopus (Silurana) tropicalis (western clawed frog)lrrk2XP_002932250.2
Process
IDNameEvidence
GO:0000165MAPK cascadeIDA
GO:0000186activation of MAPKK activityIDA
GO:0000187activation of MAPK activityIDA
GO:0001934positive regulation of protein phosphorylationIMP
GO:0006184GTP catabolic processIDA
GO:0006914autophagyIEA
GO:0006979response to oxidative stressIMP
GO:0007264small GTPase mediated signal transductionIEA
GO:0007528neuromuscular junction developmentIMP
GO:0008340determination of adult lifespanIMP
GO:0010508positive regulation of autophagyIMP
GO:0010508positive regulation of autophagyISS
GO:0014041regulation of neuron maturationIMP
GO:0018105peptidyl-serine phosphorylationIDA
GO:0018107peptidyl-threonine phosphorylationIDA
GO:0018107peptidyl-threonine phosphorylationIMP
GO:0021772olfactory bulb developmentIMP
GO:0022028tangential migration from the subventricular zone to the olfactory bulbIMP
GO:0031398positive regulation of protein ubiquitinationIDA
GO:0032091negative regulation of protein bindingIMP
GO:0032436positive regulation of proteasomal ubiquitin-dependent protein catabolic processISS
GO:0034260negative regulation of GTPase activityIDA
GO:0035564regulation of kidney sizeISS
GO:0035640exploration behaviorIMP
GO:0040012regulation of locomotionIMP
GO:0042391regulation of membrane potentialIMP
GO:0043068positive regulation of programmed cell deathIDA
GO:0043547positive regulation of GTPase activityIDA
GO:0043547positive regulation of GTPase activityIEA
GO:0046777protein autophosphorylationIDA
GO:0046777protein autophosphorylationIMP
GO:0048312intracellular distribution of mitochondriaIMP
GO:0048812neuron projection morphogenesisIMP
GO:0051900regulation of mitochondrial depolarizationIMP
GO:0060161positive regulation of dopamine receptor signaling pathwayIMP
GO:0061001regulation of dendritic spine morphogenesisIMP
GO:0070997neuron deathIMP
GO:0071407cellular response to organic cyclic compoundIEA
GO:1901214regulation of neuron deathIMP
GO:1902692regulation of neuroblast proliferationIMP
GO:1902803regulation of synaptic vesicle transportISS
GO:1902823negative regulation of late endosome to lysosome transportTAS
GO:1903125negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylationIDA
GO:2000172regulation of branching morphogenesis of a nerveIMP
GO:2000300regulation of synaptic vesicle exocytosisIMP
Component
IDNameEvidence
GO:0005615extracellular spaceIDA
GO:0005737cytoplasmIDA
GO:0005739mitochondrionIDA
GO:0005741mitochondrial outer membraneISS
GO:0005743mitochondrial inner membraneISS
GO:0005759mitochondrial matrixISS
GO:0005764lysosomeISS
GO:0005768endosomeISS
GO:0005783endoplasmic reticulumISS
GO:0005794Golgi apparatusISS
GO:0005802trans-Golgi networkIEA
GO:0005829cytosolIDA
GO:0005886plasma membraneIEA
GO:0008021synaptic vesicleIEA
GO:0016234inclusion bodyIMP
GO:0030424axonIDA
GO:0030424axonISS
GO:0030425dendriteIDA
GO:0030425dendriteISS
GO:0031410cytoplasmic vesicleISS
GO:0031966mitochondrial membraneIDA
GO:0032473cytoplasmic side of mitochondrial outer membraneIDA
GO:0032839dendrite cytoplasmIDA
GO:0043005neuron projectionIDA
GO:0043025neuronal cell bodyIDA
GO:0043204perikaryonIDA
GO:0043204perikaryonISS
GO:0045121membrane raftIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0000149SNARE bindingIPI
GO:0001948glycoprotein bindingIPI
GO:0003779actin bindingIPI
GO:0003924GTPase activityIDA
GO:0004672protein kinase activityIDA
GO:0004674protein serine/threonine kinase activityIDA
GO:0004708MAP kinase kinase activityIDA
GO:0004857enzyme inhibitor activityIDA
GO:0005096GTPase activator activityIDA
GO:0005515protein bindingIPI
GO:0005524ATP bindingIEA
GO:0005525GTP bindingIDA
GO:0015631tubulin bindingIDA
GO:0016301kinase activityIDA
GO:0017048Rho GTPase bindingIPI
GO:0017075syntaxin-1 bindingIPI
GO:0030276clathrin bindingIPI
GO:0034211GTP-dependent protein kinase activityIDA
GO:0034211GTP-dependent protein kinase activityIMP
GO:0042802identical protein bindingIPI
GO:0042803protein homodimerization activityIPI
GO:0044325ion channel bindingIPI
GO:0051018protein kinase A bindingIPI
GeneCards LRRK2
PDB 3D6T, 2ZEJ
UniProt Q5S007, Q17RV3
Vega OTTHUMG00000059742
MIM 609007
Ensembl ENSG00000188906
HGNC 18618

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the LRRK2 gene?

The LRRK2 gene provides instructions for making a protein called dardarin. The LRRK2 gene is active in the brain and other tissues throughout the body.

One segment of the dardarin protein is called a leucine-rich region because it contains a large amount of a protein building block (amino acid) known as leucine. Proteins with leucine-rich regions appear to play a role in activities that require interactions with other proteins, such as transmitting signals or helping to assemble the cell's structural framework (cytoskeleton). Other parts of the dardarin protein are also thought to be involved in protein-protein interactions.

Additional studies indicate that dardarin has an enzyme function known as kinase activity. Proteins with kinase activity assist in the transfer of a phosphate group (a cluster of oxygen and phosphorus atoms) from the energy molecule ATP to amino acids in certain proteins. This phosphate transfer is called phosphorylation, and it is an essential step in turning on and off many cell activities. Dardarin also has a second enzyme function referred to as a GTPase activity. This activity is associated with a region of the protein called the ROC domain. The ROC domain may help control the overall shape of the dardarin protein.

Interactant

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