LRRK2 leucine-rich repeat kinase 2 [Homo sapiens (human)]
| Gene Symbol | LRRK2 |
| Entrez Gene ID | 120892 |
| Full Name | leucine-rich repeat kinase 2 |
| Synonyms | AURA17, DARDARIN, PARK8, RIPK7, ROCO2 |
| 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]. |
| Disorder | MIM: 609007 Parkinson disease-8, 607060 (3) |
| mRNA | NM_198578, 171846277 |
| Protein | NP_940980, 171846278 |
| Product | leucine-rich repeat serine/threonine-protein kinase 2 |
| RefSeq Status | REVIEWED |
| hsa05012 | Parkinson's disease |
| Homo sapiens (human) | LRRK2 | NP_940980.3 |
| Pan troglodytes (chimpanzee) | LRRK2 | XP_001168494.1 |
| Canis lupus familiaris (dog) | LRRK2 | XP_543734.2 |
| Bos taurus (cattle) | LRRK2 | XP_615760.3 |
| Mus musculus (house mouse) | Lrrk2 | NP_080006.2 |
| Rattus norvegicus (Norway rat) | Lrrk2 | XP_235581.4 |
| Danio rerio (zebrafish) | lrrk2 | XP_002667002.1 |
| ID | Name | Evidence |
| GO:0000165 | MAPKKK cascade | IDA |
| GO:0000186 | activation of MAPKK activity | IDA |
| GO:0001934 | positive regulation of protein phosphorylation | IMP |
| GO:0006979 | response to oxidative stress | IMP |
| GO:0007264 | small GTPase mediated signal transduction | IEA |
| GO:0007406 | negative regulation of neuroblast proliferation | IMP |
| GO:0007528 | neuromuscular junction development | IMP |
| GO:0008340 | determination of adult lifespan | IMP |
| GO:0010508 | positive regulation of autophagy | ISS |
| GO:0010942 | positive regulation of cell death | IMP |
| GO:0014043 | negative regulation of neuron maturation | IMP |
| GO:0018105 | peptidyl-serine phosphorylation | IDA |
| GO:0021772 | olfactory bulb development | IMP |
| GO:0022028 | tangential migration from the subventricular zone to the olfactory bulb | IMP |
| GO:0031398 | positive regulation of protein ubiquitination | IDA |
| GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | ISS |
| GO:0035564 | regulation of kidney size | ISS |
| GO:0035640 | exploration behavior | IMP |
| GO:0040012 | regulation of locomotion | IMP |
| GO:0042391 | regulation of membrane potential | IMP |
| GO:0043068 | positive regulation of programmed cell death | IDA |
| GO:0043547 | positive regulation of GTPase activity | IDA |
| GO:0046777 | protein autophosphorylation | IDA |
| GO:0046777 | protein autophosphorylation | IMP |
| GO:0048312 | intracellular distribution of mitochondria | IMP |
| GO:0060161 | positive regulation of dopamine receptor signaling pathway | IMP |
| GO:0061002 | negative regulation of dendritic spine morphogenesis | IMP |
| GO:0070997 | neuron death | IMP |
| GO:2000173 | negative regulation of branching morphogenesis of a nerve | IMP |
Component
| ID | Name | Evidence |
| GO:0005622 | intracellular | IEA |
| GO:0005624 | membrane fraction | IDA |
| GO:0005737 | cytoplasm | IDA |
| GO:0005792 | microsome | IEA |
| GO:0016020 | membrane | IEA |
| GO:0019717 | synaptosome | IEA |
| GO:0030424 | axon | IEA |
| GO:0030425 | dendrite | IEA |
| GO:0032473 | external side of mitochondrial outer membrane | IDA |
Function
| ID | Name | Evidence |
| GO:0000166 | nucleotide binding | IEA |
| GO:0003924 | GTPase activity | IDA |
| GO:0004672 | protein kinase activity | IDA |
| GO:0004674 | protein serine/threonine kinase activity | IDA |
| GO:0004708 | MAP kinase kinase activity | IDA |
| GO:0005096 | GTPase activator activity | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0005524 | ATP binding | IEA |
| GO:0005525 | GTP binding | IDA |
| GO:0015631 | tubulin binding | IDA |
| GO:0034211 | GTP-dependent protein kinase activity | IDA |
| GO:0034211 | GTP-dependent protein kinase activity | IMP |
| GO:0042803 | protein homodimerization activity | IPI |
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