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Protein Coding Gene : Nf2 neurofibromin 2

Primary Identifier  MGI:97307 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  18016
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Predicted to enable several functions, including actin binding activity; beta-catenin binding activity; and integrin binding activity. Involved in lens fiber cell differentiation. Acts upstream of or within several processes, including hippocampus development; negative regulation of MAPK cascade; and negative regulation of cell population proliferation. Located in several cellular components, including adherens junction; cleavage furrow; and ruffle. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study coloboma; otitis media; renal cell carcinoma; and vestibular schwannomatosis. Human ortholog(s) of this gene implicated in gastrointestinal system cancer (multiple); malignant pleural mesothelioma; meningioma (multiple); neurilemmoma; and vestibular schwannomatosis. Orthologous to human NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor).
PHENOTYPE: Homozygous targeted null mutants lack extraembryonic ectoderm, do not initiate gastrulation and die by embryonic day 7. Heterozygotes develop malignant tumors, especially osteosarcomas. Conditional Schwann cell knockouts resemble neurofibromatosis type 2. Mice homozygous for a conditional allele activated in the eye exhibit coloboma. [provided by MGI curators]
  • synonyms:
  • Nf2,
  • merlin,
  • MGD-MRK-12823,
  • schwannomin,
  • neurofibromin 2,
  • moesin-ezrin-radixin-like protein

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Genome

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

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Proteins

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Mouse features --> Functions (GO terms)

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Interactions

9 Pathways

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Expression

Gene --> Expression annotations

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Disease

Mouse features --> Human diseases

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