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          • Home
          • › Search Tool
          • › Search Results
          • › Hs00160066_cn
          See other PTPN11 CNV Assays ›
          Gene Symbol
          PTPN11
          Assay Reference Genome
          Location

          Chr.12:112418764 on build GRCh38
          Cytoband
          12q24.13
          Assay ID Hs00160066_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
          Your Price
          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:

          5781

          Gene Name:

          protein tyrosine phosphatase, non-receptor type 11

          Gene Aliases:

          BPTP3, CFC, JMML, METCDS, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2

          Location:

          Chr.12:112418732-112509913 on Build GRCh38

          Assay Gene Location:

          Overlaps - Exon 1
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          PTPN11 NM_002834.3 NP_002825.3
          NM_080601.1 NP_542168.1
          BF515187.1

          Target Gene Details

          Entrez Gene ID:

          6128

          Gene Name:

          ribosomal protein L6

          Gene Aliases:

          L6, SHUJUN-2, TAXREB107, TXREB1

          Location:

          Chr.12:112405181-112418850 on Build GRCh38

          Assay Gene Location:

          Within Exon 1
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          RPL6 NM_001320141.1 NP_001307070.1
          XM_017019781.1 1 87 XP_016875270.1
          BG722198.1
          HY038019.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          esv3580466 Chr.12:112403584 - 112419956 on Build GRCh38 Loss PTPN11 RPL6

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          More Information


          Set Membership:

          Intragenic Exonic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          protein phosphatase ribosomal protein

          Gene Ontology Categories:

          Function(s) Process(es)

          DNA damage checkpoint
          activation of MAPK activity
          triglyceride metabolic process
          epidermal growth factor receptor signaling pathway
          integrin-mediated signaling pathway
          axonogenesis
          brain development
          heart development
          fibroblast growth factor receptor signaling pathway
          hormone-mediated signaling pathway
          regulation of phosphatidylinositol 3-kinase signaling
          cerebellar cortex formation
          platelet activation
          platelet formation
          T cell costimulation
          microvillus organization
          abortive mitotic cell cycle
          regulation of cell adhesion mediated by integrin
          negative regulation of cell adhesion mediated by integrin
          multicellular organism growth
          organ growth
          peptidyl-tyrosine dephosphorylation
          megakaryocyte development
          phosphatidylinositol-3-phosphate biosynthetic process
          atrioventricular canal development
          ERBB signaling pathway
          regulation of multicellular organism growth
          hormone metabolic process
          glucose homeostasis
          regulation of protein complex assembly
          positive regulation of mitotic cell cycle
          negative regulation of insulin secretion
          regulation of protein export from nucleus
          phosphatidylinositol phosphorylation
          positive regulation of hormone secretion
          platelet-derived growth factor receptor signaling pathway
          neurotrophin TRK receptor signaling pathway
          ephrin receptor signaling pathway
          phosphatidylinositol-mediated signaling
          multicellular organismal reproductive process
          genitalia development
          inner ear development
          homeostasis of number of cells within a tissue
          leukocyte migration
          negative regulation of cortisol secretion
          Bergmann glial cell differentiation
          negative regulation of growth hormone secretion
          face morphogenesis
          regulation of type I interferon-mediated signaling pathway
          intestinal epithelial cell migration
          positive regulation of ERK1 and ERK2 cascade
          positive regulation of glucose import in response to insulin stimulus
          ribosomal large subunit assembly
          nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
          cytoplasmic translation
          regulation of transcription, DNA-templated
          rRNA processing
          translation
          translational initiation
          SRP-dependent cotranslational protein targeting to membrane
          viral transcription
          cell-cell adhesion
          phosphoprotein phosphatase activity
          protein tyrosine phosphatase activity
          non-membrane spanning protein tyrosine phosphatase activity
          SH3/SH2 adaptor activity
          insulin receptor binding
          protein binding
          1-phosphatidylinositol-3-kinase activity
          protein domain specific binding
          receptor tyrosine kinase binding
          D1 dopamine receptor binding
          phospholipase binding
          insulin receptor substrate binding
          phosphatidylinositol-4,5-bisphosphate 3-kinase activity
          peptide hormone receptor binding
          DNA binding
          RNA binding
          structural constituent of ribosome
          poly(A) RNA binding
          cadherin binding involved in cell-cell adhesion

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