LRRK2 information

LRRK2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2ZEJ, 3D6T
Identifiers
Aliases	LRRK2, AURA17, DARDARIN, PARK8, RIPK7, ROCO2, leucine-rich repeat kinase 2, leucine rich repeat kinase 2
External IDs	OMIM: 609007; MGI: 1913975; HomoloGene: 18982; GeneCards: LRRK2; OMA:LRRK2 - orthologs
EC number	2.7.11.1
Gene location (Human)
Chr.	Chromosome 12 (human)
End	40,369,285 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	91,700,323 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; monocyte; ; lower lobe of lung; ; blood; ; upper lobe of lung; ; upper lobe of left lung; ; right lung; ; Achilles tendon; ; granulocyte; ; visceral pleura;
	Top expressed in
	granulocyte; ; human kidney; ; proximal tubule; ; left lung; ; left lung lobe; ; right kidney; ; superior frontal gyrus; ; lumbar spinal ganglion; ; spleen; ; right lung;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein homodimerization activity; signaling receptor complex adaptor activity; clathrin binding; co-receptor binding; transferase activity; GTPase activator activity; protein kinase activity; protein kinase A binding; peroxidase inhibitor activity; SNARE binding; nucleotide binding; identical protein binding; GTPase activity; syntaxin-1 binding; protein serine/threonine kinase activity; tubulin binding; transmembrane transporter binding; microtubule binding; MAP kinase kinase activity; GTP binding; ATP binding; GTP-dependent protein kinase activity; beta-catenin destruction complex binding; protein binding; kinase activity; actin binding; magnesium ion binding;
Cellular component	cytoplasmic vesicle; endosome; extracellular exosome; Wnt signalosome; neuronal cell body; trans-Golgi network; mitochondrial membranes; synapse; cytoplasm; mitochondrial outer membrane; synaptic vesicle membrane; perikaryon; endoplasmic reticulum; plasma membrane; microvillus; mitochondrial matrix; dendrite cytoplasm; growth cone; cell projection; dendrite; lysosome; neuron projection; Golgi-associated vesicle; mitochondrion; mitochondrial inner membrane; autolysosome; terminal bouton; intracellular anatomical structure; membrane; membrane raft; axon; amphisome; multivesicular body, internal vesicle; synaptic vesicle; inclusion body; cell junction; cytoplasmic side of mitochondrial outer membrane; cytosol; Golgi apparatus; postsynapse; extracellular space; nucleus; intracellular membrane-bounded organelle; caveola neck; endoplasmic reticulum exit site; glutamatergic synapse; presynaptic cytosol; ribonucleoprotein complex;
Biological process	lysosome organization; response to oxidative stress; cellular response to dopamine; regulation of autophagy; positive regulation of autophagy; positive regulation of dopamine receptor signaling pathway; regulation of neuroblast proliferation; intracellular distribution of mitochondria; negative regulation of protein processing; negative regulation of protein processing involved in protein targeting to mitochondrion; protein localization to mitochondrion; positive regulation of canonical Wnt signaling pathway; autophagy; neuromuscular junction development; phosphorylation; positive regulation of protein binding; regulation of branching morphogenesis of a nerve; mitochondrion localization; positive regulation of protein autoubiquitination; regulation of synaptic vesicle transport; positive regulation of protein phosphorylation; regulation of kidney size; regulation of synaptic vesicle exocytosis; positive regulation of MAP kinase activity; peptidyl-threonine phosphorylation; MAPK cascade; Wnt signalosome assembly; protein phosphorylation; regulation of synaptic transmission, glutamatergic; excitatory postsynaptic potential; negative regulation of hydrogen peroxide-induced cell death; regulation of dopamine receptor signaling pathway; regulation of membrane potential; protein autophosphorylation; regulation of mitochondrial fission; regulation of neuron maturation; reactive oxygen species metabolic process; positive regulation of programmed cell death; regulation of neuron death; regulation of mitochondrial depolarization; cellular response to oxidative stress; negative regulation of late endosome to lysosome transport; intracellular signal transduction; regulation of lysosomal lumen pH; negative regulation of GTPase activity; locomotory exploration behavior; Golgi organization; canonical Wnt signaling pathway; neuron projection morphogenesis; positive regulation of protein ubiquitination; regulation of canonical Wnt signaling pathway; exploration behavior; cellular response to organic cyclic compound; tangential migration from the subventricular zone to the olfactory bulb; regulation of protein kinase A signaling; calcium-mediated signaling; negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of neuron death; negative regulation of protein targeting to mitochondrion; peptidyl-serine phosphorylation; determination of adult lifespan; negative regulation of excitatory postsynaptic potential; negative regulation of protein phosphorylation; neuron death; GTP metabolic process; negative regulation of autophagosome assembly; olfactory bulb development; cellular response to starvation; regulation of dendritic spine morphogenesis; cell differentiation; endocytosis; negative regulation of protein binding; mitochondrion organization; cellular response to manganese ion; negative regulation of macroautophagy; regulation of locomotion; positive regulation of GTPase activity; regulation of retrograde transport, endosome to Golgi; regulation of CAMKK-AMPK signaling cascade; positive regulation of histone deacetylase activity; endoplasmic reticulum organization; spermatogenesis; regulation of gene expression; negative regulation of neuron projection development; striatum development; regulation of protein stability; positive regulation of nitric-oxide synthase biosynthetic process; regulation of ER to Golgi vesicle-mediated transport; protein localization to endoplasmic reticulum exit site; neuron projection arborization; regulation of synaptic vesicle endocytosis; positive regulation of synaptic vesicle endocytosis; positive regulation of microglial cell activation; protein import into nucleus;
	Sources:Amigo / QuickGO
Orthologs
	120892
	66725
	ENSG00000188906
	ENSMUSG00000036273
	Q5S007
	Q5S006
	NM_198578
	NM_025730
	NP_940980
	NP_080006
	Wikidata
View/Edit Human	View/Edit Mouse

Leucine-rich repeat kinase 2 (LRRK2), also known as dardarin (from the Basque word "dardara" which means trembling) and PARK8 (from early identified association with Parkinson's disease), is a large, multifunctional kinase enzyme that in humans is encoded by the LRRK2 gene.^[5]^[6] LRRK2 is a member of the leucine-rich repeat kinase family. Variants of this gene are associated with an increased risk of Parkinson's disease and Crohn's disease.^[5]^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000188906 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036273 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, López de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Martí-Massó JF, Pérez-Tur J, Wood NW, Singleton AB (November 2004). "Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease". Neuron. 44 (4): 595–600. doi:10.1016/j.neuron.2004.10.023. PMID 15541308. S2CID 16688488.
^ ^a ^b Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T (November 2004). "Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology". Neuron. 44 (4): 601–7. doi:10.1016/j.neuron.2004.11.005. PMID 15541309. S2CID 8642468.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000188906 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036273 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid15541308-5] Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, López de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Martí-Massó JF, Pérez-Tur J, Wood NW, Singleton AB (November 2004). "Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease". Neuron. 44 (4): 595–600. doi:10.1016/j.neuron.2004.10.023. PMID 15541308. S2CID 16688488.

[pmid15541309-6] Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T (November 2004). "Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology". Neuron. 44 (4): 601–7. doi:10.1016/j.neuron.2004.11.005. PMID 15541309. S2CID 8642468.

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