ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

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

Gene related studies (count: 1)

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

Gene related SNPs (count: 0)

Gene related CNVs (count: 10)

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

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 36)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 36)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0048471	perinuclear region of cytoplasm	Cellular Component	IDA[17097639]	87
GO:0043524	negative regulation of neuron apoptotic process	Biological Process		19
GO:0051865	protein autoubiquitination	Biological Process	IDA[17512523]	6
GO:0051087	chaperone binding	Molecular Function	IPI[15603737]	5
GO:0070534	protein K63-linked ubiquitination	Biological Process	IDA[19880420]	3
GO:0060548	negative regulation of cell death	Biological Process	IDA[15603737]	5
GO:0070936	protein K48-linked ubiquitination	Biological Process		5
GO:0070842	aggresome assembly	Biological Process	IMP[14645198]	1
GO:0090201	negative regulation of release of cytochrome c from mitochondria	Biological Process	IDA[19880420]	2
GO:0070997	neuron death	Biological Process		1
GO:2000377	regulation of reactive oxygen species metabolic process	Biological Process	IMP[18541373]	2
GO:0000209	protein polyubiquitination	Biological Process	IDA[16227987]	23
GO:0005515	protein binding	Molecular Function	IPI[15603737]	910
GO:0004842	ubiquitin-protein ligase activity	Molecular Function	IDA[16227987]	52
GO:0001933	negative regulation of protein phosphorylation	Biological Process	IDA[17512523]	5
GO:0000422	mitochondrion degradation	Biological Process	IMP[19029340]	1
GO:0005783	endoplasmic reticulum	Cellular Component		100
GO:0005739	mitochondrion	Cellular Component	IMP[19029340]	183
GO:0005737	cytoplasm	Cellular Component	IDA[17512523]	690
GO:0005634	nucleus	Cellular Component		770
GO:0006511	ubiquitin-dependent protein catabolic process	Biological Process		25
GO:0006513	protein monoubiquitination	Biological Process		1
GO:0005794	Golgi apparatus	Cellular Component	IDA[17097639]	157
GO:0005829	cytosol	Cellular Component	IDA[19880420]	447
GO:0008270	zinc ion binding	Molecular Function		323
GO:0010506	regulation of autophagy	Biological Process		4
GO:0007417	central nervous system development	Biological Process	TAS[9560156]	22
GO:0008219	cell death	Biological Process		33
GO:0019901	protein kinase binding	Molecular Function		51
GO:0030165	PDZ domain binding	Molecular Function	IPI[17512523]	13
GO:0016235	aggresome	Cellular Component	IDA[14645198]	2
GO:0019900	kinase binding	Molecular Function	IPI[17512523]	7
GO:0042787	protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Biological Process	IDA[17097639]	16
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB cascade	Biological Process	IDA[19880420]	27
GO:0031625	ubiquitin protein ligase binding	Molecular Function		23
GO:0032232	negative regulation of actin filament bundle assembly	Biological Process	IDA[17512523]	1

Gene related KEGG pathways (count: 3)

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...

Genes shared at least 5 GO terms with PARK2 (count: 78)

Gene Symbol	Pathway Count	Pathway List
SNCA	10	perinuclear region of cytoplasm; negative regulation of neuron apoptotic process; protein binding; negative regulation of protein phosphorylation; mitochondrion; cytoplasm; nucleus; Golgi apparatus; cytosol; zinc ion binding;
RNF146	8	protein autoubiquitination; protein K48-linked ubiquitination; protein binding; ubiquitin-protein ligase activity; nucleus; cytosol; zinc ion binding; protein ubiquitination involved in ubiquitin-dependent protein catabolic process;
TRIM5	8	protein K63-linked ubiquitination; protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; Golgi apparatus; zinc ion binding; positive regulation of I-kappaB kinase/NF-kappaB cascade;
TNFAIP3	8	protein K48-linked ubiquitination; protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; cytosol; zinc ion binding; kinase binding;
UBE3A	8	protein K48-linked ubiquitination; protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; ubiquitin-dependent protein catabolic process; cytosol; protein ubiquitination involved in ubiquitin-dependent protein catabolic process;
GSK3B	7	perinuclear region of cytoplasm; protein binding; cytoplasm; nucleus; cytosol; protein kinase binding; ubiquitin protein ligase binding;
HERC5	7	perinuclear region of cytoplasm; protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; cytosol; protein ubiquitination involved in ubiquitin-dependent protein catabolic process;
MALT1	7	perinuclear region of cytoplasm; protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; cytosol; positive regulation of I-kappaB kinase/NF-kappaB cascade;
PDE2A	7	perinuclear region of cytoplasm; protein binding; endoplasmic reticulum; cytoplasm; nucleus; Golgi apparatus; cytosol;
RCHY1	7	protein autoubiquitination; protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; zinc ion binding; protein ubiquitination involved in ubiquitin-dependent protein catabolic process;
PRKD1	7	negative regulation of cell death; protein binding; cytoplasm; nucleus; Golgi apparatus; cytosol; positive regulation of I-kappaB kinase/NF-kappaB cascade;
BIRC2	7	protein polyubiquitination; protein binding; ubiquitin-protein ligase activity; nucleus; cytosol; zinc ion binding; positive regulation of I-kappaB kinase/NF-kappaB cascade;
RNF20	7	protein polyubiquitination; protein binding; ubiquitin-protein ligase activity; nucleus; ubiquitin-dependent protein catabolic process; zinc ion binding; ubiquitin protein ligase binding;
TRIM32	7	protein polyubiquitination; protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; zinc ion binding; protein ubiquitination involved in ubiquitin-dependent protein catabolic process;
HERC2	7	protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; zinc ion binding; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; ubiquitin protein ligase binding;
RELA	7	protein binding; cytoplasm; nucleus; cytosol; protein kinase binding; positive regulation of I-kappaB kinase/NF-kappaB cascade; ubiquitin protein ligase binding;
RNF40	7	protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; ubiquitin-dependent protein catabolic process; zinc ion binding; ubiquitin protein ligase binding;
WWP1	7	protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; cytosol; central nervous system development; protein ubiquitination involved in ubiquitin-dependent protein catabolic process;
ATXN2	6	perinuclear region of cytoplasm; protein binding; cytoplasm; nucleus; Golgi apparatus; cell death;
CDK5RAP2	6	perinuclear region of cytoplasm; protein binding; cytoplasm; Golgi apparatus; cytosol; protein kinase binding;
KLHL20	6	perinuclear region of cytoplasm; protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; Golgi apparatus;
PSMC3	6	perinuclear region of cytoplasm; protein polyubiquitination; protein binding; cytoplasm; nucleus; cytosol;
LRSAM1	6	protein autoubiquitination; protein polyubiquitination; protein binding; ubiquitin-protein ligase activity; cytoplasm; zinc ion binding;
TRIM13	6	protein autoubiquitination; protein binding; ubiquitin-protein ligase activity; cytoplasm; zinc ion binding; positive regulation of I-kappaB kinase/NF-kappaB cascade;
RNF31	6	protein polyubiquitination; protein binding; ubiquitin-protein ligase activity; cytoplasm; zinc ion binding; positive regulation of I-kappaB kinase/NF-kappaB cascade;
BARD1	6	protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; zinc ion binding; kinase binding;
BIRC3	6	protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; zinc ion binding; positive regulation of I-kappaB kinase/NF-kappaB cascade;
CBL	6	protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; cytosol; zinc ion binding;
CRYAB	6	protein binding; mitochondrion; cytoplasm; nucleus; Golgi apparatus; cytosol;
FBXO7	6	protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; ubiquitin-dependent protein catabolic process; cell death;
GSTP1	6	protein binding; mitochondrion; cytoplasm; nucleus; cytosol; central nervous system development;
MAPK1	6	protein binding; mitochondrion; cytoplasm; nucleus; Golgi apparatus; cytosol;
NEDD4L	6	protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; cytosol; protein ubiquitination involved in ubiquitin-dependent protein catabolic process;
PRKCB	6	protein binding; cytoplasm; nucleus; cytosol; zinc ion binding; positive regulation of I-kappaB kinase/NF-kappaB cascade;
PYCARD	6	protein binding; endoplasmic reticulum; mitochondrion; cytoplasm; nucleus; cytosol;
SQSTM1	6	protein binding; endoplasmic reticulum; ubiquitin-dependent protein catabolic process; cytosol; zinc ion binding; protein kinase binding;
WWOX	6	protein binding; mitochondrion; cytoplasm; nucleus; Golgi apparatus; cytosol;
LPXN	5	perinuclear region of cytoplasm; protein binding; cytoplasm; nucleus; zinc ion binding;
OPTN	5	perinuclear region of cytoplasm; protein binding; cytoplasm; Golgi apparatus; cell death;
PAFAH1B1	5	perinuclear region of cytoplasm; protein binding; cytoplasm; nucleus; cytosol;
USP2	5	perinuclear region of cytoplasm; protein binding; nucleus; ubiquitin-dependent protein catabolic process; ubiquitin protein ligase binding;
ILK	5	negative regulation of neuron apoptotic process; protein binding; cytoplasm; cytosol; protein kinase binding;
NR4A2	5	negative regulation of neuron apoptotic process; protein binding; cytoplasm; nucleus; zinc ion binding;
ERCC8	5	protein autoubiquitination; protein polyubiquitination; protein binding; ubiquitin-protein ligase activity; nucleus;
HSPA5	5	chaperone binding; protein binding; endoplasmic reticulum; nucleus; ubiquitin protein ligase binding;
BLMH	5	protein polyubiquitination; protein binding; cytoplasm; nucleus; cytosol;
FBXO4	5	protein polyubiquitination; protein binding; ubiquitin-protein ligase activity; cytoplasm; ubiquitin-dependent protein catabolic process;
G2E3	5	protein polyubiquitination; ubiquitin-protein ligase activity; cytoplasm; Golgi apparatus; zinc ion binding;
PRPF19	5	protein polyubiquitination; protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus;
APC	5	protein binding; cytoplasm; nucleus; cytosol; protein kinase binding;
ARRB1	5	protein binding; cytoplasm; nucleus; cytosol; ubiquitin protein ligase binding;
ARRB2	5	protein binding; cytoplasm; nucleus; cytosol; ubiquitin protein ligase binding;
BNIP3	5	protein binding; mitochondrion; cytoplasm; nucleus; cell death;
CCS	5	protein binding; cytoplasm; nucleus; cytosol; zinc ion binding;
CEP57	5	protein binding; cytoplasm; nucleus; Golgi apparatus; cytosol;
CUL5	5	protein binding; nucleus; ubiquitin-dependent protein catabolic process; cytosol; ubiquitin protein ligase binding;
DAXX	5	protein binding; cytoplasm; nucleus; cytosol; ubiquitin protein ligase binding;
DCPS	5	protein binding; mitochondrion; cytoplasm; nucleus; cytosol;
FUS	5	protein binding; cytoplasm; nucleus; zinc ion binding; cell death;
HECTD1	5	protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; protein ubiquitination involved in ubiquitin-dependent protein catabolic process;
IGHMBP2	5	protein binding; cytoplasm; nucleus; zinc ion binding; cell death;
MAPK3	5	protein binding; mitochondrion; nucleus; Golgi apparatus; cytosol;
MEN1	5	protein binding; negative regulation of protein phosphorylation; cytoplasm; nucleus; cytosol;
NCK1	5	protein binding; endoplasmic reticulum; cytoplasm; nucleus; cytosol;
NEK6	5	protein binding; cytoplasm; nucleus; protein kinase binding; positive regulation of I-kappaB kinase/NF-kappaB cascade;
PAK1	5	protein binding; cytoplasm; Golgi apparatus; cytosol; protein kinase binding;
RFWD2	5	protein binding; cytoplasm; nucleus; cytosol; zinc ion binding;
RNF144B	5	protein binding; ubiquitin-protein ligase activity; cytoplasm; zinc ion binding; protein ubiquitination involved in ubiquitin-dependent protein catabolic process;
RPS3	5	protein binding; cytoplasm; nucleus; cytosol; protein kinase binding;
SART1	5	protein binding; cytoplasm; nucleus; Golgi apparatus; cytosol;
SOD3	5	protein binding; mitochondrion; nucleus; cytosol; zinc ion binding;
TH	5	protein binding; mitochondrion; cytoplasm; nucleus; cytosol;
TRAF1	5	protein binding; cytoplasm; zinc ion binding; positive regulation of I-kappaB kinase/NF-kappaB cascade; ubiquitin protein ligase binding;
TRIP12	5	protein binding; ubiquitin-protein ligase activity; cytoplasm; nucleus; protein ubiquitination involved in ubiquitin-dependent protein catabolic process;
USP10	5	protein binding; cytoplasm; nucleus; ubiquitin-dependent protein catabolic process; regulation of autophagy;
HERC6	5	ubiquitin-protein ligase activity; cytoplasm; nucleus; cytosol; protein ubiquitination involved in ubiquitin-dependent protein catabolic process;
AIFM3	5	endoplasmic reticulum; mitochondrion; cytoplasm; nucleus; cytosol;
YKT6	5	endoplasmic reticulum; mitochondrion; cytoplasm; Golgi apparatus; cytosol;

Genes shared at least 2 KEGG pathways with PARK2 (count: 2)

Gene Symbol	Pathway Count	Pathway List
SYVN1	2	Ubiquitin mediated proteolysis; Protein processing in endoplasmic reticulum;
UBE2L6	2	Ubiquitin mediated proteolysis; Parkinson's disease;

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Region: chr6:161768452..163148834 View in gBrowse