Gene Gene information from NCBI Gene database.
Entrez ID 7430
Gene name Ezrin
Gene symbol EZR
Synonyms (NCBI Gene)
CVILCVLHEL-S-105VIL2
Chromosome 6
Chromosome location 6q25.3
Summary 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 cytosk
miRNA miRNA information provided by mirtarbase database.
314
miRTarBase ID miRNA Experiments Reference
MIRT004349 hsa-miR-183-5p Luciferase reporter assay 18840437
MIRT004349 hsa-miR-183-5p Review 19935707
MIRT004349 hsa-miR-183-5p Luciferase reporter assay 18840437
MIRT005825 hsa-miR-204-5p ImmunoblotLuciferase reporter assayMicroarrayqRT-PCRWestern blot 21282569
MIRT005825 hsa-miR-204-5p ImmunoblotLuciferase reporter assay 21416062
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
FOS Activation 19164283
JUN Activation 19164283
SP1 Activation 19164283
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
119
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 20551903
GO:0001650 Component Fibrillar center IDA
GO:0001726 Component Ruffle IDA 9852149, 25554515
GO:0001772 Component Immunological synapse IDA 17911601
GO:0001772 Component Immunological synapse IDA 20551903
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
123900 12691 ENSG00000092820
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15311
Protein name Ezrin (Cytovillin) (Villin-2) (p81)
Protein function 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 macropinocyt
PDB 1NI2 , 4RM8 , 4RM9 , 4RMA , 7T1K , 7T1L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09379 FERM_N 9 71 FERM N-terminal domain Domain
PF00373 FERM_M 88 206 FERM central domain Domain
PF09380 FERM_C 210 299 FERM C-terminal PH-like domain Domain
PF00769 ERM 338 586 Ezrin/radixin/moesin family Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in cerebral cortex, basal ganglia, hippocampus, hypophysis, and optic nerve. Weakly expressed in brain stem and diencephalon. Stronger expression was detected in gray matter of frontal lobe compared to white matter (at protei
Sequence
Sequence length 586
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Tight junction
Leukocyte transendothelial migration
Regulation of actin cytoskeleton
Gastric acid secretion
Pathogenic Escherichia coli infection
Proteoglycans in cancer
MicroRNAs in cancer
  Netrin-1 signaling
Recycling pathway of L1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absence of septum pellucidum Absence Of Septum Pellucidum HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 27499265
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 21465252
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11092524, 16142420, 28423676, 29361925
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 10329398
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 25801911
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 19088174
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 25251993
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma BEFREE 25820557
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma Pubtator 25820557 Associate
★☆☆☆☆
Found in Text Mining only