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Aliases for PARK2 Gene

Aliases for PARK2 Gene

  • Parkin RBR E3 Ubiquitin Protein Ligase 2 3
  • PRKN 3 4 6
  • Parkinson Disease (Autosomal Recessive, Juvenile) 2, Parkin 2 3
  • Parkinson Protein 2, E3 Ubiquitin Protein Ligase (Parkin) 2 3
  • Parkinson Juvenile Disease Protein 2 3 4
  • LPRS2 3 6
  • PDJ 3 6
  • E3 Ubiquitin-Protein Ligase Parkin 3
  • Parkinson Disease Protein 2 4
  • E3 Ubiquitin Ligase 2
  • EC 6.3.2.- 4
  • Parkin 4
  • AR-JP 3

External Ids for PARK2 Gene

Previous GeneCards Identifiers for PARK2 Gene

  • GC06M161122
  • GC06M161643
  • GC06M161678
  • GC06M161740
  • GC06M159224

Summaries for PARK2 Gene

Entrez Gene Summary for PARK2 Gene

  • 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]

GeneCards Summary for PARK2 Gene

PARK2 (Parkin RBR E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with PARK2 include parkinson disease, juvenile, type 2 and parkin type of early-onset parkinson disease. Among its related pathways are Class I MHC mediated antigen processing and presentation and Alpha-synuclein signaling. GO annotations related to this gene include identical protein binding and ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot for PARK2 Gene

  • Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins, such as BCL2, SYT11, CCNE1, GPR37, RHOT1/MIRO1, MFN1, MFN2, STUB1, SNCAIP, SEPT5, TOMM20, USP30, ZNF746 and AIMP2 (PubMed:10973942, PubMed:10888878, PubMed:11431533, PubMed:12150907, PubMed:12628165, PubMed:16135753, PubMed:21376232, PubMed:23754282, PubMed:23620051, PubMed:24660806, PubMed:24751536). Mediates monoubiquitination as well as Lys-6, Lys-11, Lys-48-linked and Lys-63-linked polyubiquitination of substrates depending on the context (PubMed:19229105, PubMed:20889974, PubMed:25621951). Participates in the removal and/or detoxification of abnormally folded or damaged protein by mediating Lys-63-linked polyubiquitination of misfolded proteins such as PARK7: Lys-63-linked polyubiquitinated misfolded proteins are then recognized by HDAC6, leading to their recruitment to aggresomes, followed by degradation (PubMed:17846173, PubMed:19229105). Mediates Lys-63-linked polyubiquitination of a 22 kDa O-linked glycosylated isoform of SNCAIP, possibly playing a role in Lewy-body formation (PubMed:11590439, PubMed:11431533, PubMed:19229105, PubMed:11590439, PubMed:15728840). Mediates monoubiquitination of BCL2, thereby acting as a positive regulator of autophagy (PubMed:20889974). Promotes the autophagic degradation of dysfunctional depolarized mitochondria (mitophagy) by promoting the ubiquitination of mitochondrial proteins such as TOMM20, RHOT1/MIRO1 and USP30 (PubMed:19029340, PubMed:19966284, PubMed:23620051, PubMed:24896179, PubMed:25527291). Preferentially assembles Lys-6-, Lys-11- and Lys-63-linked polyubiquitin chains following mitochondrial damage, leading to mitophagy (PubMed:25621951). Mediates Lys-48-linked polyubiquitination of ZNF746, followed by degradation of ZNF746 by the proteasome; possibly playing a role in the regulation of neuron death (PubMed:21376232). Limits the production of reactive oxygen species (ROS). Regulates cyclin-E during neuronal apoptosis. In collaboration with CHPF isoform 2, may enhance cell viability and protect cells from oxidative stress (PubMed:22082830). Independently of its ubiquitin ligase activity, protects from apoptosis by the transcriptional repression of p53/TP53 (PubMed:19801972). May protect neurons against alpha synuclein toxicity, proteasomal dysfunction, GPR37 accumulation, and kainate-induced excitotoxicity (PubMed:11439185). May play a role in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent exocytosis. May represent a tumor suppressor gene.

Gene Wiki entry for PARK2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PARK2 Gene

Genomics for PARK2 Gene

Regulatory Elements for PARK2 Gene

Genomic Location for PARK2 Gene

Start:
161,347,420 bp from pter
End:
162,727,802 bp from pter
Size:
1,380,383 bases
Orientation:
Minus strand

Genomic View for PARK2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PARK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PARK2 Gene

Proteins for PARK2 Gene

  • Protein details for PARK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60260-PRKN2_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase parkin
    Protein Accession:
    O60260
    Secondary Accessions:
    • A3FG77
    • A8K975
    • D3JZW7
    • D3K2X0
    • Q5TFV8
    • Q5VVX4
    • Q6Q2I6
    • Q8NI41
    • Q8NI43
    • Q8NI44
    • Q8WW07

    Protein attributes for PARK2 Gene

    Size:
    465 amino acids
    Molecular mass:
    51641 Da
    Quaternary structure:
    • Forms an E3 ubiquitin ligase complex with UBE2L3 or UBE2L6. Mediates Lys-63-linked polyubiquitination by associating with UBE2V1. Part of a SCF-like complex, consisting of PARK2, CUL1 and FBXW7. Interacts with SNCAIP. Binds to the C2A and C2B domains of SYT11. Interacts and regulates the turnover of SEPT5. Part of a complex, including STUB1, HSP70 and GPR37. The amount of STUB1 in the complex increases during ER stress. STUB1 promotes the dissociation of HSP70 from PARK2 and GPR37, thus facilitating PARK2-mediated GPR37 ubiquitination. HSP70 transiently associates with unfolded GPR37 and inhibits the E3 activity of PARK2, whereas, STUB1 enhances the E3 activity of PARK2 through promotion of dissociation of HSP70 from PARK2-GPR37 complexes. Interacts with PSMD4 and PACRG. Interacts with LRRK2. Interacts with RANBP2. Interacts with SUMO1 but not SUMO2, which promotes nuclear localization and autoubiquitination. Interacts (via first RING-type domain) with AIMP2 (via N-terminus). Interacts with PSMA7 and RNF41. Interacts with PINK1. Interacts with CHPF, the interaction with isoform 2 may facilitate PARK2 transport into the mitochondria. Interacts with MFN2 (phosphorylated), promotes PARK2 localization in dysfunctional depolarized mitochondria. Interacts with FBXO7; this promotes translocation to dysfunctional depolarized mitochondria. Interacts with heat shock protein 70 family members, including HSPA1L, HSPA1A and HSPA8; interaction HSPA1L promotes translocation to damaged mitochondria. Interacts with BAG4 and, to a lesser extent, BAG5; interaction with BAG4 inhibits translocation to damaged mitochondria. Forms a complex with PINK1 and PARK7 (PubMed:19229105).
    Miscellaneous:
    • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain (PubMed:21532592).
    • The parkin locus (PRKN), adjacent to the 6q telomere is hyper-recombinable and lies within FRA6E, the third most common fragile site in tumor tissue

    Three dimensional structures from OCA and Proteopedia for PARK2 Gene

    Alternative splice isoforms for PARK2 Gene

neXtProt entry for PARK2 Gene

Proteomics data for PARK2 Gene at MOPED

Post-translational modifications for PARK2 Gene

  • Auto-ubiquitinates in an E2-dependent manner leading to its own degradation (PubMed:19229105). Also polyubiquitinated by RNF41 for proteasomal degradation.
  • Phosphorylation at Ser-65 by PINK1 contributes to activate PARK2 activity. It is however not sufficient and requires binding to phosphorylated ubiquitin as well.
  • S-nitrosylated. The inhibition of PARK2 ubiquitin E3 ligase activity by S-nitrosylation could contribute to the degenerative process in PD by impairing the ubiquitination of PARK2 substrates.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PARK2 Gene

Domains for PARK2 Gene

Gene Families for PARK2 Gene

HGNC:
  • PARK :Parkinson disease

Graphical View of Domain Structure for InterPro Entry

O60260

UniProtKB/Swiss-Prot:

PRKN2_HUMAN :
  • O60260
Domain:
  • The ubiquitin-like domain binds the PSMD4 subunit of 26S proteasomes.
  • The RING-type 1 zinc finger domain is required to repress p53/TP53 transcription.
  • Contains 1 ubiquitin-like domain.
Family:
  • Belongs to the RBR family. Parkin subfamily.
Similarity:
  • Contains 1 IBR-type zinc finger.
  • Contains 3 RING-type zinc fingers.
genes like me logo Genes that share domains with PARK2: view

Function for PARK2 Gene

Molecular function for PARK2 Gene

GENATLAS Biochemistry: parkin 2,protein expressed in the brain (substantia nigra),heart,testis,skeletal muscle located in the Golgi complex and the cytosol
UniProtKB/Swiss-Prot EnzymeRegulation: In the autoinhibited state the side chain of Phe-463 inserts into a hydrophobic groove in RING-0, occluding the ubiquitin acceptor site Cys-431, whereas the REP repressor element binds RING-1 and blocks its E2-binding site (PubMed:23727886, PubMed:23770887). Activation of PARK2 requires 2 steps: (1) phosphorylation at Ser-65 by PINK1 and (2) binding to phosphorylated ubiquitin, leading to unlock repression of the catalytic Cys-431 by the RING-0 region via an allosteric mechanism and converting PARK2 to its fully-active form (PubMed:24660806, PubMed:24784582, PubMed:25527291). According to another report, phosphorylation at Ser-65 by PINK1 is not essential for activation and only binding to phosphorylated ubiquitin is essential to unlock repression (PubMed:24751536).
UniProtKB/Swiss-Prot Function: Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins, such as BCL2, SYT11, CCNE1, GPR37, RHOT1/MIRO1, MFN1, MFN2, STUB1, SNCAIP, SEPT5, TOMM20, USP30, ZNF746 and AIMP2 (PubMed:10973942, PubMed:10888878, PubMed:11431533, PubMed:12150907, PubMed:12628165, PubMed:16135753, PubMed:21376232, PubMed:23754282, PubMed:23620051, PubMed:24660806, PubMed:24751536). Mediates monoubiquitination as well as Lys-6, Lys-11, Lys-48-linked and Lys-63-linked polyubiquitination of substrates depending on the context (PubMed:19229105, PubMed:20889974, PubMed:25621951). Participates in the removal and/or detoxification of abnormally folded or damaged protein by mediating Lys-63-linked polyubiquitination of misfolded proteins such as PARK7: Lys-63-linked polyubiquitinated misfolded proteins are then recognized by HDAC6, leading to their recruitment to aggresomes, followed by degradation (PubMed:17846173, PubMed:19229105). Mediates Lys-63-linked polyubiquitination of a 22 kDa O-linked glycosylated isoform of SNCAIP, possibly playing a role in Lewy-body formation (PubMed:11590439, PubMed:11431533, PubMed:19229105, PubMed:11590439, PubMed:15728840). Mediates monoubiquitination of BCL2, thereby acting as a positive regulator of autophagy (PubMed:20889974). Promotes the autophagic degradation of dysfunctional depolarized mitochondria (mitophagy) by promoting the ubiquitination of mitochondrial proteins such as TOMM20, RHOT1/MIRO1 and USP30 (PubMed:19029340, PubMed:19966284, PubMed:23620051, PubMed:24896179, PubMed:25527291). Preferentially assembles Lys-6-, Lys-11- and Lys-63-linked polyubiquitin chains following mitochondrial damage, leading to mitophagy (PubMed:25621951). Mediates Lys-48-linked polyubiquitination of ZNF746, followed by degradation of ZNF746 by the proteasome; possibly playing a role in the regulation of neuron death (PubMed:21376232). Limits the production of reactive oxygen species (ROS). Regulates cyclin-E during neuronal apoptosis. In collaboration with CHPF isoform 2, may enhance cell viability and protect cells from oxidative stress (PubMed:22082830). Independently of its ubiquitin ligase activity, protects from apoptosis by the transcriptional repression of p53/TP53 (PubMed:19801972). May protect neurons against alpha synuclein toxicity, proteasomal dysfunction, GPR37 accumulation, and kainate-induced excitotoxicity (PubMed:11439185). May play a role in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent exocytosis. May represent a tumor suppressor gene.

Enzyme Numbers (IUBMB) for PARK2 Gene

Gene Ontology (GO) - Molecular Function for PARK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IPI 12150907
GO:0003779 actin binding IPI 21753002
GO:0004842 ubiquitin-protein transferase activity IDA 11078524
GO:0005515 protein binding IPI 10888878
GO:0008270 zinc ion binding TAS 23626584
genes like me logo Genes that share ontologies with PARK2: view
genes like me logo Genes that share phenotypes with PARK2: view

Animal Models for PARK2 Gene

MGI Knock Outs for PARK2:

miRNA for PARK2 Gene

miRTarBase miRNAs that target PARK2

No data available for Transcription Factor Targeting and HOMER Transcription for PARK2 Gene

Localization for PARK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PARK2 Gene

Cytoplasm, cytosol. Nucleus. Endoplasmic reticulum. Mitochondrion. Note=Mainly localizes in the cytosol. Co-localizes with SYT11 in neutrites. Co-localizes with SNCAIP in brainstem Lewy bodies. Mitochondrial localization gradually increases with cellular growth. Also relocates to dysfunctional mitochondria that have lost the mitochondrial membrane potential; recruitment to mitochondria is PINK1-dependent.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PARK2 Gene COMPARTMENTS Subcellular localization image for PARK2 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
golgi apparatus 5
mitochondrion 5
nucleus 5
cytoskeleton 2
endosome 2
lysosome 2
plasma membrane 2
vacuole 2
extracellular 1

Gene Ontology (GO) - Cellular Components for PARK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 12150907
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 17512523
GO:0005739 colocalizes_with mitochondrion IMP 21508222
GO:0005783 endoplasmic reticulum IDA 12150907
genes like me logo Genes that share ontologies with PARK2: view

Pathways for PARK2 Gene

genes like me logo Genes that share pathways with PARK2: view

UniProtKB/Swiss-Prot O60260-PRKN2_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for PARK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 12150907
GO:0000266 mitochondrial fission ISS --
GO:0000422 mitochondrion degradation ISS --
GO:0001933 negative regulation of protein phosphorylation IDA 17512523
GO:0001963 synaptic transmission, dopaminergic --
genes like me logo Genes that share ontologies with PARK2: view

Compounds for PARK2 Gene

(5) HMDB Compounds for PARK2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Calcium
  • Ca
7440-70-2
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(56) Novoseek inferred chemical compound relationships for PARK2 Gene

Compound -log(P) Hits PubMed IDs
mg 132 60.5 3
rotenone 56.3 14
dopamine 51 77
levodopa 50.9 19
lactacystin 49.3 7
genes like me logo Genes that share compounds with PARK2: view

Transcripts for PARK2 Gene

Unigene Clusters for PARK2 Gene

Parkinson protein 2, E3 ubiquitin protein ligase (parkin):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PARK2 Gene

No ASD Table

Relevant External Links for PARK2 Gene

GeneLoc Exon Structure for
PARK2
ECgene alternative splicing isoforms for
PARK2

Expression for PARK2 Gene

mRNA expression in normal human tissues for PARK2 Gene

mRNA differential expression in normal tissues according to GTEx for PARK2 Gene

This gene is overexpressed in Muscle - Skeletal (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PARK2 Gene

SOURCE GeneReport for Unigene cluster for PARK2 Gene Hs.132954

mRNA Expression by UniProt/SwissProt for PARK2 Gene

O60260-PRKN2_HUMAN
Tissue specificity: Highly expressed in the brain including the substantia nigra. Expressed in heart, testis and skeletal muscle. Expression is down-regulated or absent in tumor biopsies, and absent in the brain of PARK2 patients. Overexpression protects dopamine neurons from kainate-mediated apoptosis. Found in serum (at protein level).
genes like me logo Genes that share expressions with PARK2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PARK2 Gene

Orthologs for PARK2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PARK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PARK2 35
  • 99.64 (n)
  • 99.35 (a)
PARK2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PARK2 35
  • 85.38 (n)
  • 85.38 (a)
PARK2 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PARK2 35
  • 85.42 (n)
  • 85.78 (a)
PARK2 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Park2 35
  • 83.41 (n)
  • 83.84 (a)
Park2 16
Park2 36
  • 80 (a)
OneToMany
Park2 36
  • 94 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PARK2 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PARK2 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Park2 35
  • 84.44 (n)
  • 85.59 (a)
chicken
(Gallus gallus)
Aves PARK2 35
  • 72.78 (n)
  • 74.89 (a)
PARK2 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PARK2 36
  • 80 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii park2 35
  • 64.25 (n)
  • 63.6 (a)
park2 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006580 35
  • 54.16 (n)
  • 46 (a)
fruit fly
(Drosophila melanogaster)
Insecta park 35
  • 53.82 (n)
  • 45.35 (a)
park 36
  • 41 (a)
OneToOne
parkin 37
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea pdr-1 35
  • 46.03 (n)
  • 35.07 (a)
pdr-1 36
  • 30 (a)
OneToOne
Species with no ortholog for PARK2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PARK2 Gene

ENSEMBL:
Gene Tree for PARK2 (if available)
TreeFam:
Gene Tree for PARK2 (if available)

Paralogs for PARK2 Gene

genes like me logo Genes that share paralogs with PARK2: view

No data available for Paralogs for PARK2 Gene

Variants for PARK2 Gene

Sequence variations from dbSNP and Humsavar for PARK2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs2358 -- 162,227,882(+) GGGAA(A/G)TCCAA intron-variant
rs25622 -- 161,647,855(-) TCTTA(-/TTTTG)TTTTA intron-variant
rs140855 -- 161,512,358(+) CATAA(-/AC/CA)GACAA intron-variant
rs475158 -- 161,515,245(+) TTCCT(C/G)TTATC intron-variant
rs475221 -- 161,537,866(+) GCCAC(A/G)GGAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PARK2 Gene

Variant ID Type Subtype PubMed ID
nsv886817 CNV Gain 21882294
esv2752091 CNV Gain 17911159
nsv886819 CNV Gain 21882294
nsv886820 CNV Gain 21882294
nsv830854 CNV Gain 17160897
nsv5577 CNV Loss 18451855
nsv518931 CNV Gain 19592680
esv2673412 CNV Deletion 23128226
esv23877 CNV Loss 19812545
nsv519391 CNV Loss 19592680
nsv886821 CNV Loss 21882294
nsv520078 CNV Loss 19592680
esv2661116 CNV Deletion 23128226
esv2492646 CNV Insertion 19546169
nsv886822 CNV Loss 21882294
dgv7014n71 CNV Gain 21882294
nsv886825 CNV Gain 21882294
dgv2026e1 CNV Complex 17122850
nsv464088 CNV Gain 19166990
esv2733078 CNV Deletion 23290073
esv2733079 CNV Deletion 23290073
dgv1078e201 CNV Deletion 23290073
esv2733081 CNV Deletion 23290073
dgv7015n71 CNV Gain 21882294
nsv464089 CNV Loss 19166990
esv2422275 CNV Duplication 17116639
esv2733083 CNV Deletion 23290073
esv26577 CNV Loss 19812545
esv2733085 CNV Deletion 23290073
esv2733086 CNV Deletion 23290073
esv2267267 CNV Deletion 18987734
nsv886828 CNV Loss 21882294
esv2677861 CNV Deletion 23128226
nsv516155 CNV Loss 19592680
esv2670282 CNV Deletion 23128226
nsv5578 CNV Insertion 18451855
esv23614 CNV Loss 19812545
nsv509164 CNV Insertion 20534489
esv1926719 CNV Deletion 18987734
esv2567515 CNV Deletion 19546169
esv25242 CNV Loss 19812545
esv2008419 CNV Deletion 18987734
nsv349534 CNV Loss 16902084
esv2733087 CNV Deletion 23290073
dgv7016n71 CNV Loss 21882294
nsv349740 CNV Loss 16902084
esv272342 CNV Insertion 20981092
esv271382 CNV Insertion 20981092
dgv2027e1 CNV Complex 17122850
nsv7988 CNV Loss 18304495
nsv886831 CNV Gain 21882294
nsv886832 CNV Gain 21882294
nsv886833 CNV Gain 21882294
nsv523485 CNV Loss 19592680
nsv886834 CNV Loss 21882294
nsv886835 CNV Loss 21882294
dgv7017n71 CNV Gain 21882294
esv2664415 CNV Deletion 23128226
nsv437529 CNV Loss 16327808
nsv437015 CNV Loss 16327808
esv2752092 CNV Loss 17911159
esv268968 CNV Insertion 20981092
esv1543709 CNV Insertion 17803354
esv1371818 CNV Insertion 17803354
nsv526090 CNV Loss 19592680
dgv7018n71 CNV Loss 21882294
esv2733088 CNV Deletion 23290073
esv2152165 CNV Deletion 18987734
esv2662753 CNV Deletion 23128226
esv2733089 CNV Deletion 23290073
nsv886839 CNV Loss 21882294
esv2752093 CNV Gain 17911159
nsv526031 CNV Gain 19592680
nsv5579 CNV Insertion 18451855
esv2733090 CNV Deletion 23290073
nsv7989 CNV Loss 18304495
nsv527260 CNV Loss 19592680
esv272416 CNV Insertion 20981092
esv271801 CNV Insertion 20981092
nsv5580 CNV Loss 18451855
esv25032 CNV Loss 19812545
esv2673491 CNV Deletion 23128226
nsv886841 CNV Loss 21882294
esv2677384 CNV Deletion 23128226
esv2733091 CNV Deletion 23290073
nsv526823 CNV Loss 19592680
nsv886842 CNV Gain 21882294
esv2669608 CNV Deletion 23128226
esv2733092 CNV Deletion 23290073
dgv7019n71 CNV Gain 21882294
nsv886845 CNV Loss 21882294
nsv886846 CNV Gain 21882294
nsv886847 CNV Loss 21882294
nsv830855 CNV Loss 17160897
esv2670955 CNV Deletion 23128226
nsv464090 CNV Loss 19166990
nsv517562 CNV Gain+Loss 19592680
nsv464091 CNV Loss 19166990
nsv470868 CNV Loss 18288195
dgv2028e1 CNV Complex 17122850
nsv7990 CNV Loss 18304495
nsv442018 CNV CNV 18776908
esv2421772 CNV Deletion 20811451
nsv514397 CNV Loss 21397061
esv2656549 CNV Deletion 23128226
esv29030 CNV Loss 19812545
nsv818464 CNV Loss 17921354
nsv886848 CNV Loss 21882294
esv2752094 CNV Gain 17911159
dgv26e196 CNV Duplication 17116639
nsv886849 CNV Gain 21882294
nsv886850 CNV Gain 21882294
nsv464093 CNV Gain 19166990
esv2661302 CNV Deletion 23128226
nsv886851 CNV Loss 21882294
nsv886852 CNV Loss 21882294
esv2662124 CNV Deletion 23128226
esv26831 CNV Loss 19812545
esv2752095 CNV Gain 17911159
nsv511352 CNV Loss 21212237
dgv1167e199 CNV Deletion 23128226
nsv511921 CNV Loss 21212237
esv25373 CNV Loss 19812545
nsv823911 CNV Loss 20364138
nsv886853 CNV Loss 21882294
nsv886854 CNV Loss 21882294
dgv7020n71 CNV Gain 21882294
nsv464094 CNV Gain 19166990
nsv886856 CNV Gain 21882294
nsv886857 CNV Loss 21882294
dgv7021n71 CNV Loss 21882294
esv2669522 CNV Deletion 23128226
nsv886861 CNV Gain 21882294
nsv886862 CNV Loss 21882294
nsv464097 CNV Loss 19166990
nsv886863 CNV Loss 21882294
esv2752096 CNV Gain 17911159
dgv7022n71 CNV Loss 21882294
nsv886865 CNV Loss 21882294
nsv886867 CNV Loss 21882294
dgv785n27 CNV Gain 19166990
nsv886868 CNV Loss 21882294
dgv7023n71 CNV Loss 21882294
nsv823912 CNV Loss 20364138
esv269845 CNV Insertion 20981092
esv2752097 CNV Loss 17911159
dgv7024n71 CNV Loss 21882294
nsv470869 CNV Gain 18288195
esv2666662 CNV Deletion 23128226
dgv786n27 CNV Gain 19166990
esv989831 CNV Insertion 20482838
nsv886873 CNV Loss 21882294
dgv1168e199 CNV Deletion 23128226
nsv886874 CNV Gain 21882294
nsv511922 CNV Loss 21212237
esv2660320 CNV Deletion 23128226
esv2752098 CNV Gain 17911159
nsv464111 CNV Loss 19166990
nsv470870 CNV Loss 18288195
nsv7993 CNV Loss 18304495
esv2676221 CNV Deletion 23128226
nsv823913 CNV Loss 20364138
nsv830856 CNV Gain 17160897
dgv2029e1 CNV Complex 17122850
nsv464112 CNV Loss 19166990
nsv818465 CNV Loss 17921354
esv2421399 CNV Deletion 20811451
nsv823914 CNV Loss 20364138
nsv819266 CNV Loss 19587683
esv2673918 CNV Deletion 23128226
esv2733093 CNV Deletion 23290073
nsv442019 CNV CNV 18776908
essv2371 CNV CNV 17122850
nsv818466 CNV Loss 17921354
esv2733094 CNV Deletion 23290073
esv2733096 CNV Deletion 23290073
esv2246800 CNV Deletion 18987734
esv2733097 CNV Deletion 23290073
dgv7025n71 CNV Loss 21882294
nsv886878 CNV Gain 21882294
esv2661906 CNV Deletion 23128226
nsv464115 CNV Loss 19166990
nsv886881 CNV Gain 21882294
nsv886882 CNV Loss 21882294
nsv886883 CNV Loss 21882294
nsv886884 CNV Loss 21882294
nsv886885 CNV Loss 21882294
esv35102 CNV Gain 17911159
nsv886886 CNV Loss 21882294
esv2733098 CNV Deletion 23290073
nsv886887 CNV Loss 21882294
dgv2030e1 CNV Complex 17122850
nsv464118 CNV Loss 19166990
nsv886888 CNV Loss 21882294
nsv7994 CNV Loss 18304495
esv2733099 CNV Deletion 23290073
esv1995879 CNV Deletion 18987734
esv2733100 CNV Deletion 23290073
nsv349169 CNV Loss 16902084
dgv7026n71 CNV Loss 21882294
esv2624127 CNV Insertion 19546169
esv2733101 CNV Deletion 23290073
dgv7027n71 CNV Gain 21882294
nsv886891 CNV Loss 21882294
nsv886892 CNV Gain 21882294
nsv464119 CNV Loss 19166990
nsv510060 CNV Loss 20534489
dgv7028n71 CNV Loss 21882294
nsv464120 CNV Loss 19166990
dgv7029n71 CNV Loss 21882294
dgv7030n71 CNV Loss 21882294
esv2657384 CNV Deletion 23128226
nsv886901 CNV Loss 21882294
dgv787n27 CNV Loss 19166990
nsv7995 CNV Loss 18304495
nsv886903 CNV Gain 21882294
nsv886904 CNV Gain 21882294
esv2733102 CNV Deletion 23290073
esv2733103 CNV Deletion 23290073
nsv886906 CNV Gain 21882294
nsv886907 CNV Loss 21882294
esv2733104 CNV Deletion 23290073
esv2661823 CNV Deletion 23128226
esv2658433 CNV Deletion 23128226
dgv7031n71 CNV Loss 21882294
esv2733105 CNV Deletion 23290073
nsv886911 CNV Gain 21882294
esv2675084 CNV Deletion 23128226
esv271159 CNV Insertion 20981092
nsv464124 CNV Loss 19166990
nsv830857 CNV Loss 17160897
nsv886912 CNV Loss 21882294
esv5727 CNV Gain 19470904
nsv886913 CNV Loss 21882294
nsv886914 CNV Gain 21882294

Relevant External Links for PARK2 Gene

HapMap Linkage Disequilibrium report
PARK2
Human Gene Mutation Database (HGMD)
PARK2
Locus Specific Mutation Databases (LSDB)
PARK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PARK2 Gene

Disorders for PARK2 Gene

(4) OMIM Diseases for PARK2 Gene (602544)

UniProtKB/Swiss-Prot

PRKN2_HUMAN
  • Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. {ECO:0000269 PubMed:12629236, ECO:0000269 PubMed:12730996}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. Heterozygous mutations act as susceptibility alleles for late-onset Parkinson disease (PubMed:12730996 and PubMed:12629236).
  • Parkinson disease 2 (PARK2) [MIM:600116]: A neurodegenerative disorder characterized by bradykinesia, rigidity, postural instability, tremor, and onset usually before 40. It differs from classic Parkinson disease by early DOPA-induced dyskinesia, diurnal fluctuation of the symptoms, sleep benefit, dystonia and hyper-reflexia. Dementia is absent. Pathologically, patients show loss of dopaminergic neurons in the substantia nigra, similar to that seen in Parkinson disease; however, Lewy bodies (intraneuronal accumulations of aggregated proteins) are absent. {ECO:0000269 PubMed:10072423, ECO:0000269 PubMed:10824074, ECO:0000269 PubMed:10939576, ECO:0000269 PubMed:11163284, ECO:0000269 PubMed:11179010, ECO:0000269 PubMed:11487568, ECO:0000269 PubMed:11971093, ECO:0000269 PubMed:12056932, ECO:0000269 PubMed:12112109, ECO:0000269 PubMed:12114481, ECO:0000269 PubMed:12116199, ECO:0000269 PubMed:12362318, ECO:0000269 PubMed:12397156, ECO:0000269 PubMed:12629236, ECO:0000269 PubMed:12730996, ECO:0000269 PubMed:15584030, ECO:0000269 PubMed:22956510, ECO:0000269 PubMed:9560156, ECO:0000269 PubMed:9731209}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in PARK2 may be involved in the development and/or progression of ovarian cancer.

(3) University of Copenhagen DISEASES for PARK2 Gene

(69) Novoseek inferred disease relationships for PARK2 Gene

Disease -log(P) Hits PubMed IDs
parkinsonism juvenile autosomal recessive 96.7 76
autosomal recessive parkinsonism 92.5 20
parkinson disease 90 156
parkinsonism 86.9 130
neurodegenerative diseases 73.8 12

Genatlas disease for PARK2 Gene

Parkinson disease,juvenile,autosomal recessive,without Lewy bodies,but with selective degeneration of nigral dopaminergic neurons and gliosis of substantia nigra and locus ceruleus,DOPA responsive

Relevant External Links for PARK2

GeneTests
PARK2
GeneReviews
PARK2
Genetic Association Database (GAD)
PARK2
Human Genome Epidemiology (HuGE) Navigator
PARK2
genes like me logo Genes that share disorders with PARK2: view

Publications for PARK2 Gene

  1. Association between early-onset Parkinson's disease and mutations in the parkin gene. (PMID: 10824074) Luecking C.B. … Brice A. (N. Engl. J. Med. 2000) 3 4 23 48
  2. Parkin mutations are rare in patients with young-onset parkinsonism in a US population. (PMID: 12781599) Chen R. … Chan P. (Parkinsonism Relat. Disord. 2003) 3 4 23 48
  3. Novel parkin mutations detected in patients with early-onset Parkinson's disease. (PMID: 15584030) Bertoli-Avella A.M. … Bonifati V. (Mov. Disord. 2005) 3 4 23 48
  4. Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: implications for Lewy body formation. (PMID: 15728840) Lim K.L. … Dawson T.M. (J. Neurosci. 2005) 3 4 23
  5. PINK1, Parkin, and DJ-1 mutations in Italian patients with early- onset parkinsonism. (PMID: 15970950) Klein C. … Pramstaller P.P. (Eur. J. Hum. Genet. 2005) 3 23 48

Products for PARK2 Gene

  • Addgene plasmids for PARK2

Sources for PARK2 Gene

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