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 Vaginal Disease. Among its related pathways are Transcription Androgen Receptor nuclear signaling and Arrhythmogenic right ventricular cardiomyopathy (ARVC). GO annotations related to this gene include poly(A) RNA binding and protein domain specific binding. An important paralog of this gene is RDX.
UniProtKB/Swiss-Prot 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.