Aliases for EZR Gene
External Ids for EZR Gene
Previous HGNC Symbols for EZR Gene
Previous GeneCards Identifiers for EZR Gene
The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for EZR Gene
EZR (Ezrin) is a Protein Coding gene. Diseases associated with EZR include Autosomal Recessive Non-Syndromic Intellectual Disability and Neurofibromatosis, Type Ii. Among its related pathways are G-protein signaling_RhoA regulation pathway and LKB1 signaling events. Gene Ontology (GO) annotations related to this gene include protein domain specific binding. An important paralog of this gene is RDX.
UniProtKB/Swiss-Prot Summary for EZR Gene
Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis.