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          • Home
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          • › Hs03612751_cn
          See other PARK2 CNV Assays ›
          Gene Symbol
          PARK2
          Assay Reference Genome
          Location

          Chr.6:161956446 on build GRCh38
          Cytoband
          6q26
          Assay ID Hs03612751_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
          Your Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          5071

          Gene Name:

          parkin RBR E3 ubiquitin protein ligase

          Gene Aliases:

          AR-JP, LPRS2, PDJ, PRKN

          Location:

          Chr.6:161347417-162727802 on Build GRCh38

          Assay Gene Location:

          Within Intron 7
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          PARK2 NM_004562.2 NP_004553.2
          NM_013987.2 NP_054642.2
          NM_013988.2 NP_054643.2
          XM_011535863.1 XP_011534165.1
          XM_017010908.1 XP_016866397.1
          XM_017010909.1 XP_016866398.1
          AB009973.1 BAA25751.1
          AB245403.1
          AF381282.1 AAM21457.1
          AF381283.1 AAM21458.1
          AF381284.1 AAM21459.1
          AK292590.1
          BC022014.2 AAH22014.1
          EF375726.1
          GU345837.1
          GU345838.1
          GU345839.1
          GU345840.1
          GU357501.1
          GU357502.1
          GU361466.1
          GU361467.1
          GU361468.1
          GU361469.1
          GU361470.1
          GU361471.1
          KC357595.1
          KC774171.1
          KJ534911.1
          KJ534912.1
          KU178240.1
          KU178241.1
          KU178242.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv1018409 Chr.6:161809542 - 162125672 on Build GRCh38 Loss PARK2
          nsv1026147 Chr.6:161704721 - 162260681 on Build GRCh38 Loss PARK2
          esv3611465 Chr.6:161567774 - 162085535 on Build GRCh38 Gain PARK2
          nsv527260 Chr.6:161950673 - 162054402 on Build GRCh38 Loss PARK2
          nsv523485 Chr.6:161788587 - 162333574 on Build GRCh38 Loss PARK2
          dgv6173n100 Chr.6:161948825 - 162054024 on Build GRCh38 Loss PARK2
          nsv5580 Chr.6:161952895 - 161982113 on Build GRCh38 Deletion PARK2
          esv3571506 Chr.6:161948824 - 162058246 on Build GRCh38 Loss PARK2
          nsv1029749 Chr.6:161543443 - 162045027 on Build GRCh38 Loss PARK2
          nsv518931 Chr.6:161372287 - 161985303 on Build GRCh38 Gain PARK2 LOC105378098
          esv2752093 Chr.6:161900345 - 162288916 on Build GRCh38 Gain PARK2
          dgv6169n100 Chr.6:161644335 - 161956796 on Build GRCh38 Loss PARK2
          nsv605074 Chr.6:161934723 - 161995173 on Build GRCh38 Gain PARK2
          dgv6172n100 Chr.6:161925250 - 162180183 on Build GRCh38 Loss PARK2
          esv3571505 Chr.6:161937230 - 162847872 on Build GRCh38 Loss PARK2 PACRG
          nsv526031 Chr.6:161907241 - 162333574 on Build GRCh38 Gain PARK2
          esv2759486 Chr.6:161769724 - 161990218 on Build GRCh38 Gain PARK2
          nsv5579 Chr.6:161940654 - 161975142 on Build GRCh38 Insertion PARK2
          esv3611478 Chr.6:161853183 - 162068074 on Build GRCh38 Gain PARK2

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          ubiquitin-protein ligase

          Gene Ontology Categories:

          Function(s) Process(es)

          negative regulation of transcription from RNA polymerase II promoter
          protein polyubiquitination
          mitochondrial fission
          mitophagy
          negative regulation of protein phosphorylation
          startle response
          transcription, DNA-templated
          protein monoubiquitination
          response to oxidative stress
          mitochondrion organization
          central nervous system development
          learning
          adult locomotory behavior
          proteasomal protein catabolic process
          regulation of autophagy
          positive regulation of gene expression
          negative regulation of gene expression
          positive regulation of mitochondrial fusion
          negative regulation of mitochondrial fusion
          regulation of mitochondrion organization
          regulation of glucose metabolic process
          free ubiquitin chain polymerization
          regulation of dopamine secretion
          macroautophagy
          protein ubiquitination
          regulation of protein ubiquitination
          protein destabilization
          negative regulation of actin filament bundle assembly
          regulation of lipid transport
          positive regulation of proteasomal ubiquitin-dependent protein catabolic process
          negative regulation of glucokinase activity
          cellular response to unfolded protein
          response to endoplasmic reticulum stress
          synaptic transmission, glutamatergic
          protein K29-linked ubiquitination
          ERAD pathway
          regulation of dopamine metabolic process
          norepinephrine metabolic process
          dopamine metabolic process
          protein ubiquitination involved in ubiquitin-dependent protein catabolic process
          positive regulation of I-kappaB kinase/NF-kappaB signaling
          proteasome-mediated ubiquitin-dependent protein catabolic process
          positive regulation of DNA binding
          negative regulation of neuron apoptotic process
          cellular protein catabolic process
          cellular protein metabolic process
          protein K27-linked ubiquitination
          negative regulation by host of viral genome replication
          positive regulation of protein catabolic process
          positive regulation of transcription from RNA polymerase II promoter
          negative regulation of JNK cascade
          negative regulation of insulin secretion
          protein stabilization
          positive regulation of neurotransmitter uptake
          dopamine uptake involved in synaptic transmission
          protein autoubiquitination
          regulation of mitochondrial membrane potential
          zinc ion homeostasis
          negative regulation of cell death
          regulation of canonical Wnt signaling pathway
          parkin-mediated mitophagy in response to mitochondrial depolarization
          neuron cellular homeostasis
          protein K63-linked ubiquitination
          protein localization to mitochondrion
          aggresome assembly
          protein K48-linked ubiquitination
          protein K11-linked ubiquitination
          cellular response to manganese ion
          protein K6-linked ubiquitination
          negative regulation of canonical Wnt signaling pathway
          positive regulation of mitochondrial fission
          negative regulation of release of cytochrome c from mitochondria
          cellular response to toxic substance
          mitophagy in response to mitochondrial depolarization
          regulation of cellular response to oxidative stress
          negative regulation of neuron death
          positive regulation of proteasomal protein catabolic process
          negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
          negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator
          negative regulation of primary amine oxidase activity
          positive regulation of protein linear polyubiquitination
          regulation of synaptic vesicle transport
          negative regulation of oxidative stress-induced cell death
          regulation of protein targeting to mitochondrion
          positive regulation of tumor necrosis factor-mediated signaling pathway
          cellular response to dopamine
          negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway
          positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway
          negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway
          positive regulation of dendrite extension
          negative regulation of spontaneous neurotransmitter secretion
          regulation of reactive oxygen species metabolic process
          negative regulation of reactive oxygen species metabolic process
          transcription regulatory region sequence-specific DNA binding
          G-protein coupled receptor binding
          transcription factor activity, sequence-specific DNA binding
          actin binding
          ubiquitin-protein transferase activity
          protein binding
          beta-catenin binding
          zinc ion binding
          tubulin binding
          ligase activity
          SH3 domain binding
          enzyme binding
          kinase binding
          protein kinase binding
          PDZ domain binding
          Hsp70 protein binding
          heat shock protein binding
          ubiquitin conjugating enzyme binding
          ubiquitin protein ligase binding
          identical protein binding
          histone deacetylase binding
          ubiquitin binding
          phospholipase binding
          chaperone binding
          ubiquitin protein ligase activity
          cullin family protein binding
          ubiquitin protein ligase activity involved in ERAD pathway
          ubiquitin-specific protease binding
          F-box domain binding

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