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PARK2 Gene

protein-coding   GIFtS: 69

GC06M161740
Parkinson disease (autosomal recessive, juvenile) 2, parkin
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for PARK2

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
AR-JP 1, 2
EC 6.3.2.- 3
LPRS2 2, 5
OTTHUMP00000017565 2
OTTHUMP00000017566 2
OTTHUMP00000017567 2
PDJ 1, 2, 5
PRKN 2, 3, 5
parkin 1, 2
Descriptions
E3 ubiquitin ligase 2
Parkinson disease (autosomal recessive, juvenile) 2, parkin 2
Parkinson disease protein 2 3
Parkinson juvenile disease protein 2 3
parkin 2 2
External Ids
HGNC: 86071
Entrez Gene: 50712
UniProtKB: O602603
Ensembl: ENSG000001853457
Search outside databases for aliases for PARK2 gene

Previous GC identifers: GC06M161122 GC06M161643 GC06M161678

Summaries
for PARK2

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for PARK2:
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]

UniProtKB/Swiss-Prot: PRKN2_HUMAN, O60260
Function: Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent
attachment of ubiquitin moieties onto substrate proteins. These substrates include SYT11, CCNE1,
GPR37, STUB1, a 22 kDa O-linked glycosylated isoform of SNCAIP and SEPT5. May play a more general
role in the ubiquitin proteasomal pathway by participating in the removal and/or detoxification of
abnormally folded or damaged protein. Loss of this ubiquitin ligase activity appears to be the
mechanism underlying pathogenesis of PARK2. May protect neurons against alpha synuclein toxicity,
proteasomal dysfunction, GPR37 accumulation, and kainate-induced excitotoxicity. May play a role
in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent
exocytosis. Regulates cyclin E during neuronal apoptosis. May represent a tumor suppressor gene

Gene Wiki entry for PARK2 (Parkin)

Genomic Location
for PARK2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PARK2 gene  

Entrez Gene cytogenetic band: 6q25.2-q27   Ensembl cytogenetic band:  6q26   HGNC cytogenetic band: 6q25.2-q27

PARK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M161740:     (about GC identifiers)

Start:
 161,688,442 bp from pter
End:
 163,068,793 bp from pter
Size:
 1,380,352 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000006.10  NT_007422.13  

Proteins
for PARK2

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: PRKN2_HUMAN, O60260 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase parkin  
Size: 465 amino acids; 51641 Da
Subunit: Forms an E3 ubiquitin ligase complex with UBE2L3 or UBE2L6. 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
Subcellular location: Cytoplasm. Nucleus. Note=Co-localizes with SYT11 in neutrites. Co-localizes
with SNCAIP in brainstem Lewy bodies
Miscellaneous: 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
PDB structure from and Proteopedia :
1IYF (3D)    2JMO (3D)    
Secondary accessions: Q5TFV8 Q6Q2I6 Q8NI41 Q8NI43 Q8NI44 Q8WW07
Alternative splicing: 5 isoforms:  O60260-1   O60260-2   O60260-3   O60260-4   O60260-5   

Post-translational modifications:

  • Auto-ubiquitinates in an E2-dependent manner leading to its own degradation1
  • 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 substrates1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (3 alternative transcripts): 
    NP_004553.2  NP_054642.2  NP_054643.2  


    ENSEMBL proteins: 
    ENSP00000355865 ENSP00000355863 ENSP00000355862 ENSP00000375981 ENSP00000375980 ENSP00000375979 
    ENSP00000355860 ENSP00000343589 ENSP00000355858 ENSP00000332804 ENSP00000355861 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Millipore Purified and/or Recombinant PARK2 Protein
    Sigma-Aldrich Proteins for PARK2  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Parkin)
    Human Recombinant Proteins from Abnova (PARK2)
                  OriGene Purified Recombinant Human Protein: PARK2 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005737 cytoplasm IEA--
    GO:0005794 Golgi apparatus IDA17097639
    GO:0048471 perinuclear region of cytoplasm IDA17097639
    About this table

    Antibodies for PARK2: 
    Invitrogen Antibodies for PARK2
    Millipore Mono- and Polyclonal Antibodies for the study of PARK2
    Sigma-Aldrich Antibody Arrays and Antibodies for PARK2
    R&D Systems Antibodies for PARK2 (Parkin)
    Cell Signaling Technology (CST) Antibodies for PARK2  (Parkin)
    Antibodies from Abcam (Parkin), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (PARK2)
    Novus Biologicals Antibodies for PARK2

    Assays for PARK2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for PARK2

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro domains/families (see all 7 ):
     IPR017907 Znf_RING_CS
     IPR002867 Znf_C6HC
     IPR016010 Parkin_C
     IPR019954 Ubiquitin_CS
     IPR000626 Ubiquitin


       GeneDecks  PARK2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O60260

    ProtoNet protein and cluster: O60260

    3 Blocks protein families:
    IPB000626 Ubiquitin domain
    IPB002867 Zn-finger
    IPB003977 Parkin signature


    UniProtKB/Swiss-Prot: PRKN2_HUMAN, O60260
    Domain: The ubiquitin-like domain binds the PSMD4 subunit of 26S proteasomes
    Similarity: Belongs to the RBR family. Parkin subfamily
    Similarity: Contains 1 IBR-type zinc finger
    Similarity: Contains 2 RING-type zinc fingers
    Similarity: Contains 1 ubiquitin-like domain

    Gene Function
    for PARK2

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (PARK2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PARK2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_013987

                  Applied Biosystems Silencer® siRNAs for PARK2

                  Sigma-Aldrich siRNA and siRNA Panels for PARK2  
                         Sigma-Aldrich shRNA Panels and shRNA for PARK2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for PARK2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_004562
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_004562
                                     untagged cDNA clones in CMV expression vector (see all 4): BC022014 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_004562

    UniProtKB/Swiss-Prot: PRKN2_HUMAN, O60260
    Function: Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent
    attachment of ubiquitin moieties onto substrate proteins. These substrates include SYT11, CCNE1,
    GPR37, STUB1, a 22 kDa O-linked glycosylated isoform of SNCAIP and SEPT5. May play a more general
    role in the ubiquitin proteasomal pathway by participating in the removal and/or detoxification of
    abnormally folded or damaged protein. Loss of this ubiquitin ligase activity appears to be the
    mechanism underlying pathogenesis of PARK2. May protect neurons against alpha synuclein toxicity,
    proteasomal dysfunction, GPR37 accumulation, and kainate-induced excitotoxicity. May play a role
    in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent
    exocytosis. Regulates cyclin E during neuronal apoptosis. May represent a tumor suppressor gene
    Enzyme Number (IUBMB): EC 6.3.2.- 

    Genatlas biochemistry entry for PARK2:
    parkin 2,protein expressed in the brain (substantia nigra),heart,testis,skeletal muscle located in
    the Golgi complex and the cytosol

    11 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Park2):

    behavior/neurologicalcellulargrowth/sizehearing/vestibular/earhomeostasis/metabolism
    life span-post-weaning/agingmusclenervous systemrespiratory systemskeleton
    skin/coat/nails

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842 ubiquitin-protein ligase activity IDA17097639
    GO:0005515 protein binding IPI11590439 12364339 16352719 17097639
    GO:0008270 zinc ion binding IEA--
    GO:0016874 ligase activity IEA--
    GO:0016881 acid-amino acid ligase activity IEA--
    About this table

    Pathways & Interactions
    for PARK2

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for PARK2 (Maps provided by GeneGo):
     Putative ubiquitin pathway

       GeneDecks  PARK2 for the pathways selected above  
    About GeneDecksing

    3 Millipore Pathways for PARK2
     Common schema of ubiquitination
     Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
     Proteolysis Putative ubiquitin pathway

       GeneDecks  PARK2 for the pathways selected above  
    About GeneDecksing

    3 Sigma-Aldrich "Your Favorite Gene" Pathways for  PARK2  (Your Favorite Gene powered by Ingenuity) 
     Mitochondrial Dysfunction
     Protein Ubiquitination Pathway
     Parkinson's Signaling

       GeneDecks  PARK2 for the pathways selected above  
    About GeneDecksing

    2 Kegg Pathways  (Kegg details for PARK2):
     hsa04120 Ubiquitin mediated proteolysis
     hsa05012 Parkinson's disease

       GeneDecks  PARK2 for the pathways selected above  
    About GeneDecksing
    UniProtKB/Swiss-Prot: PRKN2_HUMAN, O60260
    Pathway: Protein modification; protein ubiquitination

     Gene Network CentralTM Interacting Genes and Proteins Network for  PARK2 


    5/68 Interacting proteins for PARK2 (ENSP000003558653 O602601, 2) via UniProtKB, MINT, and/or STRING (see all 68 )

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RANBP2P497921STRING (score=.959) EBI-716346, EBI-973138
    PSMA7O148182STRING (score=.916) MINT-62387 MINT-62382 MINT-62385 MINT-62384 MINT-62386 MINT-62383
    PDCD2Q163422MINT-6805975 MINT-6805947 MINT-6806032 MINT-6806051 MINT-6806070
    UBASH3AP570752MINT-5208683
    UBASH3BQ8TF422MINT-5208697
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464 protein modification process IEA--
    GO:0007417 central nervous system development TAS9560156
    GO:0042787 protein ubiquitination during ubiquitin-dependent protein catabolic process IDA17097639
    About this table

    Drugs & Compounds
    for PARK2

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for PARK2
    10/33 Novoseek chemical compound relationships for PARK2 gene (see all 33 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 29.42 11 18197257 (1), 16002472 (1), 16387660 (1), 16643317 (1) (see all 11)
    6-(18f)fluoro-l-dopa 26.06 3 12756135 (3)
    lysine 23.31 11 15718234 (4), 17873885 (1), 15132984 (1), 17869110 (1) (see all 6)
    zinc 18.08 1 12485996 (1)
    threonine 14.89 1 15708501 (1)
    aminoacyl-trna 5.63 6 16672220 (2), 12783850 (2), 16049031 (1)
    ifn-alpha 4.34 2 14532120 (1), 16551269 (1)
    iron 3.86 4 15022188 (1), 15777842 (1), 17449468 (1), 16278233 (1)
    oligonucleotide 2.24 3 16636914 (1), 16844087 (1)
    proline 1.90 5 19116316 (2), 16024780 (1)
    About this table


    Transcripts
    for PARK2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (PARK2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PARK2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_013987

                  Sigma-Aldrich siRNA and siRNA Panels for PARK2  
                         Sigma-Aldrich shRNA Panels and shRNA for PARK2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_004562  NM_013987  NM_013988  

    REFSEQ mRNAs for PARK2 gene (3 alternative transcripts): 

    NM_004562.2   NM_013987.2   NM_013988.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_004562  NM_013987  NM_013988  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_004562
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_004562
                                     untagged cDNA clones in CMV expression vector (see all 4): BC022014 

    Additional cDNA sequence: BC022014.2 

    6 DOTS entries:

    DT.97786520  DT.100018005  DT.91754864  DT.99941242  DT.121333987  DT.121333970 

    12 AceView cDNA sequences:

    AA176605 BM782100 BQ181930 AI818737 AA176878 BQ082313 AB009973 NM_004562 
    NM_013987 NM_013988 AF381286 BF679817 

    highest scoring ESTs for PARK2:

    AB009973 BG720953 BC022014 AA176878 AF381286 AI806342 BF679817 BM782100 BX115387 NM_004562 

    Unigene Clusters for PARK2:

    Parkinson disease (autosomal recessive, juvenile) 2, parkin
    Hs.132954  [show with all ESTs], Hs.716115  [show with all ESTs], Hs.716151  [show with all ESTs], Hs.716168
    Unigene Representative Sequences: NM_004562, AK292590, AF381284, BC022014


    GeneLoc Exon Structure

    11 Ensembl transcripts including schematic representations:
    ENST00000366898  ENST00000366897  ENST00000366896  ENST00000392136  ENST00000392135  ENST00000392134  
    ENST00000366894  ENST00000338468  ENST00000366892  ENST00000328035  ENST00000366895  

    Expression
    for PARK2

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    PARK2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for PARK2

    1 / 2 / 3

    6 probe-sets matching PARK2 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		33019_at2, 3 U95-A 1 1.00 1.00 0.87 1.04 AB009973 1.00 0.90 0.95 1

    		86935_r_at2, 3 U95-E 1 1.00 1.00 0.95 1.01 AI818737 0.40 1.00 0.76 1

    		207058_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004562 0.60 1.00 0.82 1

    		1554855_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		207058_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		1555668_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GTTTCCCAGT

    SOURCE GeneReport for Unigene clusters: Hs.132954 Hs.716115 Hs.716151 Hs.716168

    Expression variation in blood from EXPOLDB for PARK2

    UniProtKB/Swiss-Prot: PRKN2_HUMAN, O60260
    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

    Orthologs
    for PARK2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for PARK2 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 PARK21   -- Parkinson disease (autosomal recessive, juvenile) 2, more 85.88(n)
    89.27(a)    		 612316  XM_850059.1  XP_855152.1 
    chimpanzee
    (Pan troglodytes)    		 PARK21   -- Parkinson disease (autosomal recessive, juvenile) 2, more 99.57(n)
    99.14(a)    		 741350  XM_001153913.1  XP_001153913.1 
    cow
    (Bos taurus)    		 PARK21   -- Parkinson disease (autosomal recessive, juvenile) 2, more 85.3(n)
    85.14(a)    		 530858  XM_609337.3  XP_609337.3 
    rat
    (Rattus norvegicus)    		 Park21   -- Parkinson disease (autosomal recessive, juvenile) 2, more 84.37(n)
    85.38(a)    		 56816  NM_020093.1  NP_064478.1 
    mouse
    (Mus musculus)    		 Park21, 5 17 (5.91 cM)5
    		 Parkinson disease (autosomal recessive, juvenile) 2, more1, 5 83.33(n)1
    83.62(a)1    		 508731  NM_016694.31  NP_057903.11 
     AB0195585  AC0906565  (see all 21)
    About this table        Species with no ortholog for PARK2

    ENSEMBL Gene Tree for PARK2

    Paralogs
    for PARK2

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    		  --

    SNPs/Variants
    for PARK2

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/9819 NCBI SNPs in PARK2 are shown (see all 9819 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 2987)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 6 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs11224701,2
    		A,C,F,H161689100(+) CCCAAC/TGCAGC 3 -- ut31 ese34Minor allele frequency- T:0.03MN EU EA 478
    rs18014741,2
    		C,F,H162542187(-) GTGCAG/ACACCT 3 N/S mis1 int1 ese38Minor allele frequency- A:0.21EU EA WA 838
    rs94567351,2
    		C,F,H162395157(+) ACTCAT/GCCGGT 3 L/M mis1 int1 ese38Minor allele frequency- G:0.01EU EA WA 838
    rs18015821,2
    		C,F,H161727845(-) GTGCCC/GTATTT 3 V/L mis18Minor allele frequency- G:0.50EU EA WA 840
    rs18013341,2
    		C,F,H161701215(-) GAGTCG/AATGAA 3 N/D mis18Minor allele frequency- A:0.02EU EA WA 840
    rs37344641,2
    		C,F,H161689825(+) GGTTGT/CACTTT 3 -- ut3116Minor allele frequency- C:0.03EA NA EU WA 2886
    rs119612371,2
    		C,F,H161689714(+) TTACAG/ATCTCT 3 -- ut314Minor allele frequency- A:0.01EU EA WA 418
    rs168924791,2
    		F,H161688603(+) ATTCAT/CGTTCA 3 -- ut317Minor allele frequency- C:0.01NA EU EA WA 556
    --
    rs168924811,2
    		C161689427(+) TCACCG/ATGGGG 3 -- ut31 ese33Minor allele frequency- A:0.01NA 140
    rs7130551,2
    		A,C,F,H,O162491313(+) GAAGAC/TAGTGG 3 -- int116Minor allele frequency- G:0.05NA EA NS EU WA 993
    About this table

    HapMap Linkage Disequilibrium images for PARK2 (up to first 250kb)

    Disorders & Mutations
    for PARK2

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 602544   disorders: 600116  211980  604370  607572  

    UniProtKB/Swiss-Prot: PRKN2_HUMAN, O60260

  • Defects in PARK2 are a cause of Parkinson disease (PD) [MIM:168600]. PD is a complex,
    multifactorial disorder that typically manifests after the age of 50 years, although early-onset
    cases (before 50 years) are known. PD generally arises as a sporadic condition but is occasionally
    inherited as a simple mendelian trait. Although sporadic and familial PD are very similar,
    inherited forms of the disease usually begin at earlier ages and are associated with atypical
    clinical features. PD is characterized by bradykinesia, resting tremor, muscular rigidity and
    postural instability, as well as by a clinically significant response to treatment with levodopa.
    The pathology of PD 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
  • Defects in PARK2 are the cause of autosomal recessive early onset Parkinson disease 2
    (PARK2) [MIM:600116]; also known as early-onset parkinsonism with diurnal fluctuation (EPDF) or
    autosomal recessive juvenile Parkinson disease (PDJ). PARK2 is symptomatically different in
    several aspects from idiopathic Parkinson disease, although classic symptoms such as bradykinesia,
    rigidity and tremor are present. Additional clinical features include early DOPA-induced
    dyskinesia, diurnal fluctuation of the symptoms, sleep benefit, dystonia and hyper-reflexia. PARK2
    is usually characterized by onset before 40, with a mean age at onset of 23.2 years.
    Pathologically, PARK2 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
  • Defects in PARK2 may be involved in the development and/or progression of ovarian cancer

    • 10/65 Novoseek disease relationships for PARK2 gene (see all 65 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinsonism juvenile autosomal recessive 96.89 81 15022188 (2), 16002472 (2), 16672220 (2), 11128608 (2) (see all 63)
    autosomal recessive parkinsonism 92.23 18 12707451 (2), 17914725 (1), 18307263 (1), 19297401 (1) (see all 15)
    parkinson disease 89.30 309 16914382 (4), 17499497 (4), 16227987 (3), 16401616 (3) (see all 99)
    parkinsonism 86.39 142 16375772 (5), 15725358 (5), 18546294 (4), 15642853 (4) (see all 80)
    lgmd2h 74.70 2 15316618 (1), 16816390 (1)
    neurodegenerative diseases 73.15 9 16908979 (1), 12676955 (1), 16447778 (1), 16810237 (1) (see all 10)
    parkinson disease, autosomal dominant 71.30 7 18446261 (1), 15717024 (1), 18292964 (1), 12761037 (1) (see all 6)
    autosomal dominant parkinsonism 70.27 3 11455179 (2), 10894217 (1)
    movement disorders 66.90 7 15266615 (1), 11334819 (1), 12972409 (1), 15725358 (1) (see all 6)
    neurodegeneration 66.32 28 15603737 (3), 16597723 (2), 15911761 (2), 12783850 (2) (see all 19)
    About this table

    Genatlas disease: PARK2
    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

    GeneTests: PARK2
    Parkin Type of Juvenile Parkinson Disease

    Human Gene Mutation Database: PARK2
    Genetic Association Database: PARK2
    Human Genome Epidemiology Navigator: PARK2 (71 documents)

    Medical News
    for PARK2

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for PARK2

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/873 PubMed articles for PARK2 gene (see all 873 ):

    Search for PARK2

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PARK2

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 5071 HGNC: 8607 AceView: PARK2 Ensembl:ENSG00000185345 euGenes: HUgn5071
    ECgene: PARK2 H-InvDB: PARK2

    Other Databases showing PARK2

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing PARK2

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=PARK2

    Licensable Technologies
    for PARK2

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for PARK2

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for PARK2:
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