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          • Home
          • › Search Tool
          • › Search Results
          • › Hs00445995_cn
          See other NF2 CNV Assays ›
          Gene Symbol
          NF2
          Assay Reference Genome
          Location

          Chr.22:29695505 on build GRCh38
          Cytoband
          22q12.2
          Assay ID Hs00445995_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:

          4771

          Gene Name:

          neurofibromin 2

          Gene Aliases:

          ACN, BANF, SCH

          Location:

          Chr.22:29603556-29698600 on Build GRCh38

          Assay Gene Location:

          Within Exon 18
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          NF2 NM_000268.3 16 2934 NP_000259.1
          NM_016418.5 17 2979 NP_057502.2
          NM_181828.2 16 2853 NP_861966.1
          NM_181829.2 16 2856 NP_861967.1
          NM_181830.2 15 2730 NP_861968.1
          NM_181832.2 17 2994 NP_861970.1
          NM_181833.2 5 1644 NP_861971.1
          XM_017028809.1 16 2497 XP_016884298.1
          XM_017028810.1 17 2538 XP_016884299.1
          AF369657.1 16 2916 AAK54160.1
          AF369658.1 17 2961 AAK54161.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv515720 Chr.22:29685726 - 29767537 on Build GRCh38 Gain+Loss NF2 ZMAT5 CABP7 UQCR10

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          More Information


          Set Membership:

          Intragenic Exonic DGV Variation

          Panther Classification:

          Molecular Function -

          actin or actin-binding cytoskeletal protein

          Gene Ontology Categories:

          Function(s) Process(es)

          mesoderm formation
          negative regulation of cell-matrix adhesion
          negative regulation of protein kinase activity
          ectoderm development
          negative regulation of DNA replication
          negative regulation of cell proliferation
          Schwann cell proliferation
          regulation of gliogenesis
          hippocampus development
          negative regulation of cell-cell adhesion
          actin cytoskeleton organization
          negative regulation of cell growth
          negative regulation of cell migration
          regulation of protein stability
          regulation of hippo signaling
          odontogenesis of dentin-containing tooth
          negative regulation of tyrosine phosphorylation of Stat3 protein
          negative regulation of tyrosine phosphorylation of Stat5 protein
          negative regulation of MAPK cascade
          cell-cell junction organization
          positive regulation of cell differentiation
          negative regulation of JAK-STAT cascade
          positive regulation of stress fiber assembly
          lens fiber cell differentiation
          regulation of stem cell proliferation
          regulation of protein localization to nucleus
          regulation of neural precursor cell proliferation
          actin binding
          integrin binding
          protein binding
          beta-catenin binding
          protein domain specific binding

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