NF2 cDNA Clone – Neurofibromin 2 (Merlin) (Human)

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]

Merlin: a moesin-ezrin-radizin-like protein. Interacts with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. Expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations are associated with neurofibromatosis type II. Two predominant isoforms and eight minor isoforms are produced by alternatively spliced transcripts.

Protein type: Tumor suppressor; Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 22q12.2

Cellular Component: cytoplasm; cytoskeleton; early endosome; membrane; nucleolus; nucleus; perinuclear region of cytoplasm; plasma membrane

Molecular Function: protein binding

Biological Process: actin cytoskeleton organization and biogenesis; negative regulation of cell migration; negative regulation of cell proliferation; negative regulation of cell-cell adhesion; negative regulation of cell-matrix adhesion; negative regulation of DNA replication; negative regulation of JAK-STAT cascade; negative regulation of tyrosine phosphorylation of Stat3 protein; negative regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of stress fiber formation; Schwann cell proliferation

Disease: Meningioma, Familial, Susceptibility To; Neurofibromatosis, Type Ii; Schwannomatosis 1