EZR (Ezrin) Gene: Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the EZR gene, encoding ezrin, a key cytoskeletal linker protein involved in cell adhesion, migration, and signaling.
Gene Information Card
| Symbol | EZR |
|---|---|
| Full Name | Ezrin |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 7430 ncbi.nlm.nih.gov/gene/7430 |
| Ensembl ID | ENSG00000192819 |
| UniProt ID | P15311 |
| OMIM ID | 123900 |
| HGNC ID | 3518 |
| Aliases | CVIL, CVL, DKFZp762H157, FLJ26216, HEL-S-105, VIL2 |
Description
The EZR gene (ezrin) encodes a cytoplasmic peripheral membrane protein that functions as a cross-linker between the plasma membrane and the actin cytoskeleton. Ezrin is a member of the ERM (ezrin, radixin, moesin) family and plays critical roles in cell surface structure adhesion, migration, and organization. It is involved in multiple signaling pathways, including those regulating cell survival, proliferation, and motility. Mutations and altered expression of EZR are associated with neurofibromatosis type 2 (NF2) and various cancers, where it contributes to metastatic potential.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurofibromatosis type 2 (NF2) | Loss of function of ezrin disrupts membrane-cytoskeleton linkage, impairing cell adhesion and growth control; NF2 mutations often involve the EZR gene. | OMIM #101000; ClinVar; NCBI Gene |
| Breast cancer | Overexpression of ezrin enhances cell migration and invasion, promoting metastasis. | COSMIC; PubMed studies |
| Osteosarcoma | Elevated ezrin expression correlates with metastatic spread and poor prognosis. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Breast | 9.8 | Low |
| Colon | 11.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.7 | Cervical cancer cell line; high expression |
| A549 | 14.2 | Lung carcinoma cell line; moderate expression |
| MCF7 | 16.5 | Breast cancer cell line; high expression |
| HEK293 | 12.3 | Embryonic kidney; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1250G>A (p.Arg417His) | Missense | 0.02% (gnomAD) | Alters ezrin FERM domain; potential loss of function |
| c.1342C>T (p.Arg448Trp) | Missense | 0.01% (gnomAD) | Located in C-terminal domain; may affect actin binding |
| c.1576C>T (p.Arg526*) | Nonsense | Rare | Premature stop; loss of function; associated with NF2 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg526*) lead to truncated ezrin protein, disrupting membrane-cytoskeleton linkage and contributing to NF2 pathogenesis.
Gain of Function (GOF)
Missense mutations in the FERM domain (e.g., p.Arg417His) may alter protein conformation, potentially enhancing ezrin-mediated signaling and promoting cancer cell invasion.
Dominant Negative (DN)
Some missense mutations in the C-terminal actin-binding region can interfere with wild-type ezrin function, impairing cytoskeletal organization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ERM protein family signaling (Reactome R-HSA-446353)
• Regulation of actin cytoskeleton (KEGG hsa04810)
• Focal adhesion (KEGG hsa04510)
• Signaling by Rho GTPases (Reactome R-HSA-194315)
Protein Summary
Ezrin (UniProt P15311) is a 586-amino acid protein with a conserved N-terminal FERM domain (residues 1–297) that binds membrane proteins, and a C-terminal actin-binding domain (residues 475–586). It exists in a dormant cytoplasmic form and an active membrane-bound form upon phosphorylation at Thr567. Ezrin links the plasma membrane to the actin cytoskeleton, regulating cell shape, adhesion, and migration. It is highly expressed in epithelial and endothelial cells and is upregulated in many cancers, where it promotes metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EZR Knockout HEK293 Cell Line | EDJ-KQ3384 | Human | 7430 | Details Get a Quote |
| EZR Knockout A-549 Cell Line | EDJ-KQ25070 | Human | 7430 | Details Get a Quote |
| EZR Knockout HCT 116 Cell Line | EDJ-KQ25071 | Human | 7430 | Details Get a Quote |
| EZR Knockout HeLa Cell Line | EDJ-KQ25072 | Human | 7430 | Details Get a Quote |
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