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- Data Summary
Gene Report
Approved Symbol | PARK2 |
---|---|
Symbol Alias | PDJ, AR-JP, parkin |
Approved Name | parkinson protein 2, E3 ubiquitin protein ligase (parkin) |
Previous Name | Parkinson disease (autosomal recessive, juvenile) 2, parkin |
Name Alias | E3 ubiquitin ligase |
Location | 6q25.2-q27 |
Position | chr6:161768452-163148834, - |
External Links |
HGNC: 8607 Entrez Gene: 5071 Ensembl: ENSG00000185345 UCSC: uc003qtx.3 |
No. of Studies | 1 (significant: 1; non-significant: 0; trend: 0) |
Source | Literature-origin; Mapped by CNV |
Reference | Statistical Values/Author Comments | Result of Statistical Analysis |
---|---|---|
Jarick, I., 2012 | Rare CNVs within PARK2 were identified with a significantly higher prevalence in ADHD patients than in controls (P=2.8E-4 after empirical correction for genome-wide testing). In the replication sample, CNVs at the PARK2 locus were found in four additional ADHD patients and one additional control (P=4.3E-2). | Significant |
ID | Location | Size | Band | Type | Inheritance |
---|---|---|---|---|---|
CNV_Jarick[2012]_43 | chr6:162477709-162724935 (NCBI36 / hg18) | 247227 | 6q26 | del | |
CNV_Jarick[2012]_44 | chr6:162629938-162935269 (NCBI36 / hg18) | 305332 | 6q26 | dup | |
CNV_Elia[2010]_66 | chr6:162672945-162782313 (NCBI Build 35 (hg17)) | 109369 | 6q26 | Deletion (hemizygous) | Paternal |
CNV_Elia[2010]_67 | chr6:162699792-162801747 (NCBI Build 35 (hg17)) | 101956 | 6q26 | Duplication | Maternal |
CNV_Jarick[2012]_49 | chr6:162687672-162789187 (NCBI36 / hg18) | 101516 | 6q26 | del | |
CNV_Jarick[2012]_50 | chr6:162687672-162896029 (NCBI36 / hg18) | 208358 | 6q26 | del | |
CNV_Jarick[2012]_45 | chr6:162637688-162809965 (NCBI36 / hg18) | 172278 | 6q26 | dup | |
CNV_Jarick[2012]_46 | chr6:162644237-162829925 (NCBI36 / hg18) | 185689 | 6q26 | dup | |
CNV_Jarick[2012]_47 | chr6:162644237-162834976 (NCBI36 / hg18) | 190740 | 6q26 | dup | |
CNV_Jarick[2012]_48 | chr6:162674596-162834976 (NCBI36 / hg18) | 160381 | 6q26 | dup |
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 36)
ID | Name | No. of Genes in ADHDgene | Brief Description |
---|---|---|---|
hsa04120 | Ubiquitin mediated proteolysis | 29 | Protein ubiquitination plays an important role in eukaryotic...... Protein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to proteins being degraded is performed by a reaction cascade consisting of three enzymes, named E1 (ubiquitin activating enzyme), E2 (ubiquitin conjugating enzyme), and E3 (ubiquitin ligase). Each E3 has specificity to its substrate, or proteins to be targeted by ubiquitination. Many E3s are discovered in eukaryotes and they are classified into four types: HECT type, U-box type, single RING-finger type, and multi-subunit RING-finger type. Multi-subunit RING-finger E3s are exemplified by cullin-Rbx E3s and APC/C. They consist of a RING-finger-containing subunit (RBX1 or RBX2) that functions to bind E2s, a scaffold-like cullin molecule, adaptor proteins, and a target recognizing subunit that binds substrates. More... |
hsa05012 | Parkinson's disease | 22 | Parkinson's disease (PD) is a progressive neurodegenerative ...... Parkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL1 (a ubiquitin carboxy-terminal hydrolase L1), parkin, DJ1 (a parkin-associated protein involved with oxidative stress), and PINK1 (a putative serine threonine kinase) are known to cause early-onset PD. These pathogenic mutations are associated with disease through pathogenic pathways that may commonly lead proteasome dysfunction, mitochondrial impairment, and oxidative stress. Point mutations in alpha-synuclein lead to excessive intracellular accumulation and protofibril formation. Decrease in the amount of soluble alpha-synuclein tends to increase free cytoplasmic dopamine and the formation of reactive oxygen species (ROS). Modification of parkin and UCHL1 are associated with the ubiquitin-proteasome system pathway and may increase proteotoxic stress. Mutations in parkin, DJ1, and PINK1 may alter mitochondiral activity, potentially impairing proteasomal function. Environmental toxins such as N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and rotenone can cause mitochondrial dysfunction and oxidative stress. More... |
hsa04141 | Protein processing in endoplasmic reticulum | 26 | The endoplasmic reticulum (ER) is a subcellular organelle wh...... The endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylated. Correctly folded proteins are packaged into transport vesicles that shuttle them to the Golgi complex. Misfolded proteins are retained within the ER lumen in complex with molecular chaperones. Proteins that are terminally misfolded bind to BiP and are directed toward degradation through the proteasome in a process called ER-associated degradation (ERAD). Accumulation of misfolded proteins in the ER causes ER stress and activates a signaling pathway called the unfolded protein response (UPR). In certain severe situations, however, the protective mechanisms activated by the UPR are not sufficient to restore normal ER function and cells die by apoptosis. More... |
Gene Symbol | Pathway Count | Pathway List |
---|---|---|
SYVN1 | 2 | Ubiquitin mediated proteolysis; Protein processing in endoplasmic reticulum; |
UBE2L6 | 2 | Ubiquitin mediated proteolysis; Parkinson's disease; |
Region: chr6:161768452..163148834 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014