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          • Home
          • › Search Tool
          • › Search Results
          • › Hs06354090_cn
          See other PKP2 CNV Assays ›
          Gene Symbol
          PKP2
          Assay Reference Genome
          Location

          Chr.12:32834888 on build GRCh38
          Cytoband
          12p11.21
          Assay ID Hs06354090_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          Online offer:
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          5318

          Gene Name:

          plakophilin 2

          Gene Aliases:

          ARVD9

          Location:

          Chr.12:32790746-32896846 on Build GRCh38

          Assay Gene Location:

          Within Intron 7
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          PKP2 NM_001005242.2 NP_001005242.2
          NM_004572.3 NP_004563.2
          AK299139.1
          BC094762.1 AAH94762.1
          BC126199.1
          BC143966.1
          EU520483.1
          EU520484.1
          EU520485.1
          EU520486.1
          X97675.1 CAA66264.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv526287 Chr.12:32827083 - 32835041 on Build GRCh38 Loss PKP2

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          intermediate filament binding protein

          Gene Ontology Categories:

          Function(s) Process(es)

          desmosome assembly
          heart development
          negative regulation of cell proliferation
          positive regulation of sodium ion transport
          gap junction assembly
          single organismal cell-cell adhesion
          negative regulation of cell migration
          adherens junction maintenance
          intermediate filament bundle assembly
          maintenance of organ identity
          ventricular cardiac muscle tissue morphogenesis
          lipid homeostasis
          cardiac muscle cell action potential
          cardiac muscle cell action potential involved in contraction
          ventricular cardiac muscle cell action potential
          cell-cell signaling involved in cardiac conduction
          cell communication by electrical coupling involved in cardiac conduction
          bundle of His cell-Purkinje myocyte adhesion involved in cell communication
          regulation of heart rate by cardiac conduction
          establishment of protein localization to plasma membrane
          regulation of ventricular cardiac muscle cell action potential
          regulation of bicellular tight junction assembly
          molecular_function
          protein kinase C binding
          protein binding
          sodium channel regulator activity
          intermediate filament binding
          protein complex scaffold
          ion channel binding
          alpha-catenin binding
          cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication
          cadherin binding involved in cell-cell adhesion

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