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This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]
Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001707 [mesoderm formation] GO:0001726 [ruffle] GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005178 [integrin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0005912 [adherens junction] GO:0006469 [negative regulation of protein kinase activity] GO:0007264 [small GTPase mediated signal transduction] GO:0007398 [ectoderm development] GO:0007420 [brain development] GO:0008013 [beta-catenin binding] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0014013 [regulation of gliogenesis] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0019904 [protein domain specific binding] GO:0021766 [hippocampus development] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030027 [lamellipodium] GO:0030036 [actin cytoskeleton organization] GO:0030175 [filopodium] GO:0030336 [negative regulation of cell migration] GO:0030864 [cortical actin cytoskeleton] GO:0031527 [filopodium membrane] GO:0031647 [regulation of protein stability] GO:0032154 [cleavage furrow] GO:0032587 [ruffle membrane] GO:0035330 [regulation of hippo signaling] GO:0042127 [regulation of cell proliferation] GO:0042475 [odontogenesis of dentin-containing tooth] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0043005 [neuron projection] GO:0043234 [protein complex] GO:0043409 [negative regulation of MAPK cascade] GO:0044297 [cell body] GO:0045121 [membrane raft] GO:0045177 [apical part of cell] GO:0045202 [synapse] GO:0045216 [cell-cell junction organization] GO:0045597 [positive regulation of cell differentiation] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0050767 [regulation of neurogenesis] GO:0051496 [positive regulation of stress fiber assembly] GO:0070306 [lens fiber cell differentiation] GO:0072091 [regulation of stem cell proliferation] GO:1900180 [regulation of protein localization to nucleus] GO:2000177 [regulation of neural precursor cell proliferation]
Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007264 [small GTPase mediated signal transduction] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0031527 [filopodium membrane] GO:0032587 [ruffle membrane] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]
Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007264 [small GTPase mediated signal transduction] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0031527 [filopodium membrane] GO:0032587 [ruffle membrane] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]
Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007264 [small GTPase mediated signal transduction] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0031527 [filopodium membrane] GO:0032587 [ruffle membrane] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]
Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007264 [small GTPase mediated signal transduction] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0031527 [filopodium membrane] GO:0032587 [ruffle membrane] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]
Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007264 [small GTPase mediated signal transduction] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0031527 [filopodium membrane] GO:0032587 [ruffle membrane] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]
Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007264 [small GTPase mediated signal transduction] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0031527 [filopodium membrane] GO:0032587 [ruffle membrane] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]
Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007264 [small GTPase mediated signal transduction] GO:0008092 [cytoskeletal protein binding] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0031527 [filopodium membrane] GO:0032587 [ruffle membrane] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]
Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001953 [negative regulation of cell-matrix adhesion] GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005856 [cytoskeleton] GO:0005886 [plasma membrane] GO:0007264 [small GTPase mediated signal transduction] GO:0008156 [negative regulation of DNA replication] GO:0008285 [negative regulation of cell proliferation] GO:0014010 [Schwann cell proliferation] GO:0016020 [membrane] GO:0019898 [extrinsic component of membrane] GO:0022408 [negative regulation of cell-cell adhesion] GO:0030036 [actin cytoskeleton organization] GO:0030336 [negative regulation of cell migration] GO:0031527 [filopodium membrane] GO:0032587 [ruffle membrane] GO:0035330 [regulation of hippo signaling] GO:0042518 [negative regulation of tyrosine phosphorylation of Stat3 protein] GO:0042524 [negative regulation of tyrosine phosphorylation of Stat5 protein] GO:0046426 [negative regulation of JAK-STAT cascade] GO:0048471 [perinuclear region of cytoplasm] GO:0051496 [positive regulation of stress fiber assembly]