HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EZR
ezrin
Chromosome 6 · 6q25.3
NCBI Gene: 7430Ensembl: ENSG00000092820.20HGNC: HGNC:12691UniProt: P15311
668PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein kinase A bindingregulation of actin cytoskeleton organizationestablishment of epithelial cell apical/basal polarityregulation of non-canonical NF-kappaB signal transductionhair colorglaucomanon-small cell lung carcinomalung adenocarcinoma
✦AI Summary

Ezrin (EZR) is a critical cytoskeletal linker protein that anchors actin filaments to the plasma membrane 1. In epithelial cells, EZR is essential for forming microvilli and membrane ruffles, and coordinates with PLEKHG6 for normal macropinocytosis. EZR functions as part of the ERM (ezrin-radixin-moesin) complex, which connects the plasma membrane to the cytoskeleton and is crucial for immune cell function 2. Mechanistically, EZR regulates RhoA, Rac1, and Cdc42 activation to control cell adhesion and migration 3. Phosphorylation-dependent activation enables calcium signaling and immune responses 2. EZR expression is regulated by long noncoding RNA EZR-AS1 through SMYD3-mediated histone methylation 4. Disease relevance is substantial: autosomal-recessive EZR mutations cause immunodeficiency with B-cell deficiency and impaired adaptive immunity 2. EZR is upregulated in breast cancer, where it promotes proliferation, invasion, and metastasis through EMT pathways 3. Similarly, elevated EZR-AS1 in lung adenocarcinoma correlates with increased cell proliferation and migration 5. EZR dysfunction also associates with Alzheimer's disease pathogenesis in metabolism-related subtypes 6. Clinically, EZR represents a potential therapeutic target for cancer metastasis and immunological disorders.

Sources cited
1
EZR is a subunit of the ERM complex crucial for immune response assembly; homozygous missense mutations cause autosomal-recessive immunodeficiency with B-cell deficiency
PMID: 37301410
2
EZR is an oncogenic gene in breast cancer that regulates RhoA, Rac1, and Cdc42 activation; knockdown inhibits proliferation, invasion, chemoresistance, and EMT
PMID: 37304008
3
lncRNA EZR-AS1 regulates EZR transcription via SMYD3 signaling in endothelial cells
PMID: 32596350
4
EZR-AS1 is elevated in lung adenocarcinoma; silencing reduces proliferation and migration by downregulating migration-related proteins
PMID: 37722090
5
EZR is identified as a feature gene associated with Alzheimer's disease progression
PMID: 37715200
6
EZR is a crucial linker between actin cytoskeleton and plasma membrane; nonsynonymous mutations can disrupt EZR-EBP50 interaction and protein stability
PMID: 40129965
Disease Associationsⓘ20
hair colorOpen Targets
0.52Moderate
glaucomaOpen Targets
0.41Moderate
non-small cell lung carcinomaOpen Targets
0.40Weak
lung adenocarcinomaOpen Targets
0.38Weak
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.37Weak
Abnormality of refractionOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.32Weak
generalized dystoniaOpen Targets
0.30Weak
gastric adenocarcinomaOpen Targets
0.29Weak
diffuse gastric adenocarcinomaOpen Targets
0.28Weak
Signet Ring Cell Gastric AdenocarcinomaOpen Targets
0.28Weak
squamous cell lung carcinomaOpen Targets
0.28Weak
musculoskeletal system diseaseOpen Targets
0.27Weak
connective tissue diseaseOpen Targets
0.24Weak
ulcerative colitisOpen Targets
0.21Weak
esophageal squamous cell carcinomaOpen Targets
0.21Weak
hepatocellular carcinomaOpen Targets
0.21Weak
melanomaOpen Targets
0.21Weak
papillary thyroid carcinomaOpen Targets
0.20Weak
soft tissue sarcomaOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PODXLProtein interaction100%PRKCAProtein interaction100%PRKCGProtein interaction100%PXNProtein interaction100%TBC1D10AProtein interaction100%ARHGDIAProtein interaction100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
100%
Heart
93%
Brain
93%
Liver
28%
Ovary
28%
Gene Interaction Network
Click a node to explore
EZRPODXLPRKCAPRKCGPXNTBC1D10AARHGDIA
PROTEIN STRUCTURE
Preparing viewer…
PDB7T1K · 1.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.54 [0.41–0.70]
RankingsWhere EZR stands among ~20K protein-coding genes
  • #328of 20,598
    Most Researched668 · top 5%
  • #5,289of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedEZR
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Investigation of the freely available easy-to-use software 'EZR' for medical statistics.
PMID: 23208313
Bone Marrow Transplant · 2013
1.00
2
PMID: 30000690
0.90
3
Serum anti-CFL1, anti-EZR, and anti-CYPA autoantibody as diagnostic markers in ovarian cancer.
PMID: 38684875
Sci Rep · 2024
0.88
4
Zhuru extracts ameliorate lipid accumulation of MASLD via suppressing the mTORC1/SREBPs pathway.
PMID: 40617366
J Ethnopharmacol · 2025
0.84
5
Variant in EZR leads to defects in lens development.
PMID: 38563525
Ophthalmic Genet · 2024
0.82