| URN | urn:agi-llid:5071 |
|---|---|
| Total Entities | 0 |
| Connectivity | 998 |
| Name | Park2 |
| Description | parkin RBR E3 ubiquitin protein ligase |
| Notes | The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008] |
| GO Molecular Function | ligase activity |
|---|---|
| acid-amino acid ligase activity | |
| ubiquitin-protein ligase activity | |
| protein complex binding | |
| chaperone binding | |
| kinase binding | |
| protein kinase binding | |
| ubiquitin protein ligase binding | |
| PDZ domain binding | |
| metal ion binding | |
| zinc ion binding |
| GO Cellular Component | membrane |
|---|---|
| synapse | |
| cell junction | |
| membrane raft | |
| postsynaptic membrane | |
| Golgi membrane | |
| postsynaptic density | |
| protein complex | |
| intracellular | |
| plasma membrane | |
| cell projection | |
| cytoplasm | |
| Golgi apparatus | |
| cytosol | |
| perinuclear region of cytoplasm | |
| endoplasmic reticulum | |
| cytoplasmic vesicle | |
| mitochondrion | |
| synaptic vesicle | |
| aggresome | |
| nucleus | |
| neuron projection | |
| dendrite |
| GO Biological Process | startle response |
|---|---|
| learning | |
| central nervous system development | |
| neuron maturation | |
| adult locomotory behavior | |
| cell death | |
| negative regulation of actin filament bundle assembly | |
| positive regulation of I-kappaB kinase-NF-kappaB signaling | |
| negative regulation of release of cytochrome c from mitochondria | |
| regulation of synaptic transmission | |
| dopamine uptake involved in synaptic transmission | |
| regulation of neurotransmitter secretion | |
| synaptic transmission, dopaminergic | |
| synaptic transmission, glutamatergic | |
| negative regulation of cell death | |
| neuron death | |
| negative regulation of neuron apoptotic process | |
| response to drug | |
| response to corticosterone | |
| response to unfolded protein | |
| locomotory behavior | |
| regulation of reactive oxygen species metabolic process | |
| regulation of autophagy | |
| negative regulation of protein phosphorylation | |
| regulation of transcription, DNA-templated | |
| transcription, DNA-templated | |
| norepinephrine metabolic process | |
| dopamine metabolic process | |
| cellular protein modification process | |
| protein ubiquitination | |
| protein polyubiquitination | |
| protein autoubiquitination | |
| protein ubiquitination involved in ubiquitin-dependent protein catabolic process | |
| protein monoubiquitination | |
| protein K48-linked ubiquitination | |
| protein K63-linked ubiquitination | |
| ubiquitin-dependent protein catabolic process | |
| autophagy | |
| mitochondrion degradation | |
| protein metabolic process | |
| aggresome assembly |
| Pathway | Young Onset PARK2, PINK1, and UCHL1 Induced Parkinson's Disease |
|---|---|
| Proteins Involved in Pathogenesis of Parkinson's Disease | |
| Young Onset PARK7 and LRRK2 Induced Parkinson's Disease | |
| Proteins Involved in Pathogenesis of Glioblastoma | |
| mitochondrial autophagy pathway | |
| altered mitochondrial autophagy pathway | |
| Parkinson disease pathway |
| Group | Ubiquitin-dependent protein degradation |
|---|---|
| startle response | |
| learning | |
| central nervous system development | |
| neuron maturation | |
| adult locomotory behavior | |
| cell death | |
| negative regulation of actin filament bundle assembly | |
| positive regulation of I-kappaB kinase-NF-kappaB signaling | |
| negative regulation of release of cytochrome c from mitochondria | |
| regulation of synaptic transmission | |
| dopamine uptake involved in synaptic transmission | |
| regulation of neurotransmitter secretion | |
| synaptic transmission, dopaminergic | |
| synaptic transmission, glutamatergic | |
| negative regulation of cell death | |
| neuron death | |
| negative regulation of neuron apoptotic process | |
| response to drug | |
| response to corticosterone | |
| response to unfolded protein | |
| locomotory behavior | |
| regulation of reactive oxygen species metabolic process | |
| regulation of autophagy | |
| negative regulation of protein phosphorylation | |
| regulation of transcription, DNA-templated | |
| ligase activity | |
| acid-amino acid ligase activity | |
| ubiquitin-protein ligase activity | |
| transcription, DNA-templated | |
| norepinephrine metabolic process | |
| dopamine metabolic process | |
| cellular protein modification process | |
| protein ubiquitination | |
| protein polyubiquitination | |
| protein autoubiquitination | |
| protein ubiquitination involved in ubiquitin-dependent protein catabolic process | |
| protein monoubiquitination | |
| protein K48-linked ubiquitination | |
| protein K63-linked ubiquitination | |
| ubiquitin-dependent protein catabolic process | |
| autophagy | |
| mitochondrion degradation | |
| protein metabolic process | |
| aggresome assembly | |
| protein complex binding | |
| chaperone binding | |
| kinase binding | |
| protein kinase binding | |
| ubiquitin protein ligase binding | |
| PDZ domain binding | |
| metal ion binding | |
| zinc ion binding | |
| membrane | |
| synapse | |
| cell junction | |
| membrane raft | |
| postsynaptic membrane | |
| Golgi membrane | |
| postsynaptic density | |
| protein complex | |
| intracellular | |
| plasma membrane | |
| cell projection | |
| cytoplasm | |
| Golgi apparatus | |
| cytosol | |
| perinuclear region of cytoplasm | |
| endoplasmic reticulum | |
| cytoplasmic vesicle | |
| mitochondrion | |
| synaptic vesicle | |
| aggresome | |
| nucleus | |
| neuron projection | |
| dendrite | |
| Genes with Mutations Associated with Parkinson's Disease | |
| Genes with Mutations Associated with Ovarian Cancer | |
| Secreted proteins |
| LocusLink ID | 5071 |
|---|---|
| 50873 | |
| 56816 |
| Cell Localization | Cytoplasm |
|---|---|
| Nucleus | |
| Endoplasmic reticulum | |
| Cytosol | |
| Cell projection | |
| Dendrite | |
| Cell junction | |
| Synapse | |
| Postsynaptic cell membrane | |
| Postsynaptic density | |
| Mitochondrion |
| GO ID | 0030165 |
|---|---|
| 0051087 | |
| 0019900 | |
| 0019901 | |
| 0031625 | |
| 0004842 | |
| 0008270 | |
| 0070842 | |
| 0008219 | |
| 0007417 | |
| 0000422 | |
| 0032232 | |
| 0060548 | |
| 0043524 | |
| 0001933 | |
| 0090201 | |
| 0070997 | |
| 0043123 | |
| 0070936 | |
| 0070534 | |
| 0051865 | |
| 0006513 | |
| 0000209 | |
| 0042787 | |
| 0010506 | |
| 2000377 | |
| 0006355 | |
| 0006351 | |
| 0006511 | |
| 0005794 | |
| 0016235 | |
| 0005737 | |
| 0005829 | |
| 0005783 | |
| 0005739 | |
| 0005634 | |
| 0048471 | |
| 0016881 | |
| 0016874 | |
| 0046872 | |
| 0032403 | |
| 0008344 | |
| 0006914 | |
| 0042417 | |
| 0051583 | |
| 0007612 | |
| 0007626 | |
| 0042415 | |
| 0019538 | |
| 0016567 | |
| 0046928 | |
| 0050804 | |
| 0006986 | |
| 0001964 | |
| 0001963 | |
| 0035249 | |
| 0000139 | |
| 0030054 | |
| 0042995 | |
| 0031410 | |
| 0005622 | |
| 0016020 | |
| 0045121 | |
| 0043005 | |
| 0005886 | |
| 0014069 | |
| 0045211 | |
| 0043234 | |
| 0045202 | |
| 0008021 | |
| 0006464 | |
| 0042551 | |
| 0051412 | |
| 0042493 | |
| 0030425 |
| Alias | PDJ |
|---|---|
| PRKN | |
| AR-JP | |
| LPRS2 | |
| KB-152G3.1 | |
| E3 ubiquitin-protein ligase parkin | |
| parkinson juvenile disease protein 2 | |
| parkinson protein 2, E3 ubiquitin protein ligase (parkin) | |
| Parkinson disease (autosomal recessive, juvenile) 2, parkin | |
| parkin protein | |
| Park | |
| parkin variant SV5DEL | |
| Parkinson disease (autosomal recessive, juvenile) 2 | |
| OTTHUMP00000017566 | |
| Parkinson disease 2 | |
| Parkinson disease II | |
| Partial coding sequence representing amino acids 206-243 | |
| Parkinson disease (juvenile) gene | |
| parkin RBR E3 ubiquitin protein ligase | |
| parkinson protein 2, E3 ubiquitin protein ligase | |
| OTTHUMP00000017562 | |
| PARK2 | |
| Homologous to GI:7710078. Partial coding sequence amino acids 58-178 | |
| MGC130518 | |
| OTTHUMP00000017563 | |
| OTTHUMP00000017564 | |
| OTTHUMP00000017565 | |
| parkin 2 | |
| OTTHUMP00000017567 | |
| parkin |
| Mouse chromosome position | 17 7.8 cM |
|---|
| OMIM ID | 602544 |
|---|---|
| 607572 | |
| 211980 | |
| 167000 | |
| 600116 |
| Rat chromosome position | 1q11 |
|---|
| Hugo ID | 8607 |
|---|
| Human chromosome position | 6q25.2-q27 |
|---|
| Swiss-Prot Accession | O60260 |
|---|---|
| Q5VVX4 | |
| Q9WVS6 | |
| Q9JK66 | |
| Q8K5C3 | |
| Q8K5C4 | |
| Q8K5C5 | |
| Q8K5C6 | |
| Q8VHY6 | |
| Q9JLL1 | |
| Q9JM64 | |
| Q2KHJ9 | |
| Q9ES22 | |
| Q9ES23 | |
| A3FG77 | |
| A8K975 | |
| D3JZW7 | |
| D3K2X0 | |
| Q5TFV8 | |
| Q6Q2I6 | |
| Q8NI41 | |
| Q8NI43 | |
| Q8NI44 | |
| Q8WW07 |
| Unigene ID | Hs.132954 |
|---|---|
| Mm.311110 | |
| Rn.207194 |
| KEGG ID | hsa:5071 |
|---|---|
| mmu:50873 | |
| rno:56816 |
| Swiss-Prot ID | PRKN2_RAT |
|---|---|
| PRKN2_MOUSE | |
| PRKN2_HUMAN |
| EC Number | 6.3.2.- |
|---|
| Ensembl ID | ENSG00000185345 |
|---|---|
| ENSP00000355865 | |
| ENST00000366898 | |
| ENSP00000355858 | |
| ENST00000366892 |
| Homologene ID | 3355 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 1355296 |
|---|
| RGD ID | 61797 |
|---|
| MedScan ID | 5071 |
|---|