NF2 Gene Summary [Human]

This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that link cytoskeletal components with proteins in the cell membrane. The encoded protein is involved in regulation of contact-dependent inhibition of cell proliferation and functions in cell-cell adhesion and transmembrane signaling. The encoded protein has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics, and proteins involved in regulating ion transport. Disruption of this protein's function has been implicated in tumorigenesis and metastasis. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. [provided by RefSeq, May 2022]

Details

Type
Protein Coding
Official Symbol
NF2
Official Name
neurofibromin 2 [Source:HGNC Symbol;Acc:HGNC:7773]
Ensembl ID
ENSG00000186575
Bio databases IDs NCBI: 4771 Ensembl: ENSG00000186575
Aliases neurofibromin 2, NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor, moesin-ezrin-radixin like, schwannomin, bilateral acoustic neurofibromatosis
Synonyms ACN, BANF, Merlin, neurofibromatosis 2 tumor suppressor, neurofibromatosis 2 tumour suppressor, neurofibromin 2, NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor, NF2, moesin-ezrin-radixin like (MERLIN) tumour suppressor, SCH, SCHWANNOMIN, SWNV
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • FERM central domain
  • Band 4.1 homologues
  • ermad domain
  • RNase Y N-terminal region
  • Ezrin/radixin/moesin, alpha-helical domain
  • beta-catenin binding
  • helical domain
  • coiled-coil domain
  • protein domain specific binding
  • protein binding
  • Pleckstrin homology-like domain
  • VAFFEEL domain
  • phosphorylation site
  • FERM N-terminal domain
  • ERM binding domain
  • FERM domain
  • MAP7 (E-MAP-115) family
  • Ubl1_cv_Nsp3_N-like
  • integrin binding
  • blue box
  • Ezrin/radixin/moesin family C terminal
  • FERM domain B-lobe
  • FERM C-terminal PH-like domain

Pathways

Biological processes and signaling networks where the NF2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • lung cancer
  • neoplasia
  • liver neoplasia
  • epithelial neoplasia
  • benign neoplasia
  • liver cancer
  • digestive system cancer
  • abdominal cancer
  • cancer
  • epithelial cancer
regulated by
regulates
role in cell
  • expression in
  • phosphorylation in
  • differentiation
  • formation
  • activation in
  • invasion by
  • function
  • apoptosis
  • binding in
  • proliferation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • detergent-insoluble membrane fraction
  • nuclear fraction
  • raft fractions
  • soluble fraction
  • detergent-soluble membrane fractions
  • membrane fraction
  • insoluble fractions
  • cortical peptidoglycan layer
  • ruffle
  • cortical actin cytoskeleton
  • cytoskeleton
  • Cytoplasm
  • cell surface
  • apical compartment
  • perinuclear region
  • cellular membrane
  • actin cytoskeleton
  • cell cortex
  • Nucleus
  • microtubules
  • actin filaments
  • midbody
  • intercellular junctions
  • cell-cell contacts
  • cytosol
  • cytoplasmic face of plasma membrane
  • membrane ruffles
  • plasma membrane projections
  • lateral plasma membrane
  • nucleoli
  • nuclear envelope
  • neurites
  • I band
  • early endosomes
  • cortical actin filaments
  • actin stress fibers
  • cleavage furrow
  • cellular protrusions
  • microvilli
  • filopodia
  • mitotic spindle
  • perikaryon
  • axons
  • dendrites
  • cell-cell adherens junctions
  • lamellipodia
  • microspikes
  • cytoskeletal fraction
  • cytoplasmic fraction
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NF2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of cell shape
  • negative regulation of MAPK cascade
  • negative regulation of cell proliferation
  • negative regulation of cell-cell adhesion
  • regulation of stem cell proliferation
  • odontogenesis of dentin-containing tooth
  • ectoderm development
  • negative regulation of tyrosine phosphorylation of STAT protein
  • MAPK cascade
  • regulation of neural precursor cell proliferation
  • mesoderm formation
  • regulation of cell cycle
  • lens fiber cell differentiation
  • regulation of hippo signaling cascade
  • regulation of gliogenesis
  • Schwann cell proliferation
  • hippocampus development
  • regulation of apoptotic process
  • positive regulation of cell differentiation
  • cell-cell junction organization
  • negative regulation of JAK-STAT cascade
  • regulation of protein stability
  • negative regulation of cell-matrix adhesion
  • negative regulation of Schwann cell proliferation
  • positive regulation of stress fiber assembly
  • osteoblast proliferation
  • positive regulation of early endosome to late endosome transport
  • actin cytoskeleton organization
  • negative regulation of cell migration
  • negative regulation of osteoblast proliferation
  • regulation of protein localization to nucleus

Cellular Component

Where in the cell the gene product is active
  • cleavage furrow
  • nucleolus
  • neuron projection
  • plasma membrane
  • filopodium membrane
  • nucleus
  • early endosome
  • adherens junction
  • cytoskeleton
  • perinuclear region of cytoplasm
  • apical part of cell
  • cytoplasm
  • cell body
  • membrane
  • filopodium
  • cytosol
  • ruffle membrane
  • cortical actin cytoskeleton
  • lamellipodium

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • actin binding
  • integrin binding

Gene-Specific Assays for Results You Can Trust

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