Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7430
Gene name Gene Name - the full gene name approved by the HGNC.
Ezrin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EZR
Synonyms (NCBI Gene) Gene synonyms aliases
CVIL, CVL, HEL-S-105, VIL2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.3
Summary Summary of gene provided in NCBI Entrez 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 cytosk
miRNA miRNA information provided by mirtarbase database.
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 Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21282569
MIRT005825 hsa-miR-204-5p Immunoblot, Luciferase reporter assay 21416062
Transcription factors
Transcription factor Regulation Reference
FOS Activation 19164283
JUN Activation 19164283
SP1 Activation 19164283
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 20551903
GO:0001772 Component Immunological synapse IDA 17911601
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
123900 12691 ENSG00000092820
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 18784066
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Carcinoma Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 12376462
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 14615410, 17659733, 34577118
Adenocarcinoma Follicular Associate 30996241
Adenocarcinoma of Lung Inhibit 11092524
Adenocarcinoma of Lung Associate 29361925
Ameloblastoma Associate 25820557
Asthenozoospermia Associate 23174138
Astrocytoma Associate 11106550, 34723710
Atrophy Associate 24413175
Biliary Atresia Associate 34392560
Breast Neoplasms Associate 19550117, 21818323, 23420497, 26938523, 27622508, 31578772, 32028690, 36923551, 36938826, 37304008