Parkinson's disease pathway (WP2371)

Most people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations in specific genes have been conclusively shown to cause PD. These genes code for alpha-synuclein (SNCA), parkin (PRKN), leucine-rich repeat kinase 2 (LRRK2 or dardarin), PTEN-induced putative kinase 1 (PINK1), DJ-1 and ATP13A2.[4][22] In most cases, people with these mutations will develop PD. With the exception of LRRK2, however, they account for only a small minority of cases of PD.[4] The most extensively studied PD-related genes are SNCA and LRRK2. Mutations in genes including SNCA, LRRK2 and glucocerebrosidase (GBA) have been found to be risk factors for sporadic PD. The role of the SNCA gene is important in PD because the alpha-synuclein protein is the main component of Lewy bodies.[22] Missense mutations of the gene (in which a single nucleotide is changed), and duplications and triplications of the locus containing it have been found in different groups with familial PD. Mutations in LRRK2 are the most common known cause of familial and sporadic PD, accounting for approximately 5% of individuals with a family history of the disease and 3% of sporadic cases. Sources: [http://en.wikipedia.org/wiki/Parkinson's_disease wikipedia], [https://www.qiagen.com/geneglobe/pathwayview.aspx?pathwayID=345 Qiagen], and [http://www.genome.jp/kegg/pathway/hsa/hsa05012.html KEGG]. Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP2371 CPTAC Assay Portal]
last edited

Authors

AlexanderPico, MaintBot, Egonw, Khanspers, Fehrhart, Mkutmon, and Eweitz

Cited In

Organism

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Disease Ontology: Parkinson's disease neurodegenerative disease Lewy body dementia

Pathway Ontology: neurodegenerative pathway Parkinson's disease pathway disease pathway

Participants

Label Type Compact Identifier
ROS Metabolite chebi:29191
EPRS GeneProduct ncbigene:2058
Apoptosis Pathway Pathway wikipathways:WP254
DDC GeneProduct ncbigene:1644
DAT GeneProduct ncbigene:6531
UCHL1 GeneProduct ncbigene:7345
Parkin GeneProduct ncbigene:5071
SNCA GeneProduct ncbigene:6622
TH GeneProduct ncbigene:7054
L-Tyrosine Metabolite kegg.compound:C00082
L-DOPA Metabolite kegg.compound:C00355
Dopamine Metabolite kegg.compound:C03758
Dopamine Metabolite kegg.compound:C03758
LRRK2 GeneProduct ncbigene:120892
PINK1 GeneProduct ncbigene:65018
DJ1 GeneProduct ncbigene:11315
HTRA2 GeneProduct ncbigene:27429
CYCS GeneProduct ncbigene:54205
GPR37 GeneProduct ncbigene:2861
SEPTIN5 GeneProduct ncbigene:5413
SNCAIP GeneProduct ncbigene:9627
UBB GeneProduct ncbigene:7314
UBA1 GeneProduct ncbigene:7317
UBA7 GeneProduct ncbigene:7318
UBE2L3 GeneProduct ncbigene:7332
UBE2L6 GeneProduct ncbigene:9246
UBE2J2 GeneProduct ncbigene:118424
UBE2G1 GeneProduct ncbigene:7326
UBE2G2 GeneProduct ncbigene:7327
UBE2J1 GeneProduct ncbigene:51465
ATXN2 GeneProduct ncbigene:6311
SYT11 GeneProduct ncbigene:23208
CCNE1 GeneProduct ncbigene:898
CCNE2 GeneProduct ncbigene:9134
SNCA GeneProduct ncbigene:6622
SNCAIP GeneProduct ncbigene:9627
MAPK12 GeneProduct ncbigene:6300
MAPK11 GeneProduct ncbigene:5600
MAPK14 GeneProduct ncbigene:1432
MAPK13 GeneProduct ncbigene:5603
Oxidative Phosphorylation Pathway wikipathways:WP111
Apoptosis Pathway Pathway wikipathways:WP254
CASP6 GeneProduct ncbigene:839
CASP9 GeneProduct ncbigene:842
CASP2 GeneProduct ncbigene:835
CYCS GeneProduct ncbigene:54205
CASP7 GeneProduct ncbigene:840
CASP3 GeneProduct ncbigene:836
APAF1 GeneProduct ncbigene:317
MAPK Signaling Pathway wikipathways:WP382
WNT Signaling Pathway wikipathways:WP399
hsa-mir-132 Rna ncbigene:406921
hsa-mir-19A Rna ncbigene:406979
hsa-mir-19B1 Rna ncbigene:406980
hsa-mir-19B2 Rna ncbigene:406981
hsa-mir-485 Rna ensembl:ENSG00000208027
hsa-mir-127 Rna ensembl:ENSG00000207608
hsa-mir-128-1 Rna ensembl:ENSG00000207654
hsa-mir-128-2 Rna ncbigene:406916
hsa-mir-409 Rna ensembl:ENSG00000199107
hsa-let-7g Rna ensembl:ENSG00000199150
hsa-mir-433 Rna ensembl:ENSG00000207569
hsa-mir-370 Rna ensembl:ENSG00000199005
hsa-mir-873 Rna ensembl:ENSG00000215939
hsa-mir-431 Rna ncbigene:574038
hsa-mir-136 Rna ensembl:ENSG00000207942
hsa-mir-212 Rna ncbigene:406994
hsa-mir-10A Rna ncbigene:406902
hsa-mir-1224 Rna ncbigene:100187716
hsa-mir-4448 Rna ncbigene:100616127
hsa-mir-338 Rna ncbigene:442906
hsa-mir-16-2 Rna ncbigene:406951
hsa-mir-1294 Rna ncbigene:100302181
hsa-mir-30E Rna ensembl:ENSG00000198974
hsa-mir-30A Rna ncbigene:407029
hsa-mir-503 Rna ncbigene:574506
hsa-mir-503 Rna ncbigene:574506
hsa-mir-34C Rna ensembl:ENSG00000207562
hsa-mir-26A1 Rna ncbigene:407015
hsa-mir-26A2 Rna ncbigene:407016
hsa-mir-34B Rna ensembl:ENSG00000207811
hsa-mir-34C Rna ncbigene:407042
hsa-mir-26A1 Rna ncbigene:407015
hsa-mir-26A2 Rna ncbigene:407016
hsa-mir-34B Rna ncbigene:407041
hsa-mir-195 Rna ncbigene:406971
hsa-mir-195 Rna ncbigene:406971
hsa-mir-26B Rna ensembl:ENSG00000199121
MIR18A Rna ensembl:ENSG00000283815
MIR18A Rna ensembl:ENSG00000283815
hsa-mir-375 Rna ncbigene:494324
hsa-mir-26B Rna ncbigene:407017
hsa-mir-375 Rna ensembl:ENSG00000198973
hsa-mir-26b Rna ncbigene:407017

References

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