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Aliases for EZR Gene

Aliases for EZR Gene

  • Ezrin 2 3 3 5
  • Villin 2 (Ezrin) 2 3
  • Cytovillin 2 2 3
  • VIL2 3 4
  • P81 3 4
  • Epididymis Secretory Protein Li 105 3
  • Cytovillin 4
  • HEL-S-105 3
  • Villin-2 4
  • CVIL 3
  • CVL 3

External Ids for EZR Gene

Previous HGNC Symbols for EZR Gene

  • VIL2

Previous GeneCards Identifiers for EZR Gene

  • GC06M159106
  • GC06M159186
  • GC06M156657

Summaries for EZR Gene

Entrez Gene Summary 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 Salivary secretion and RhoA signaling pathway. Gene Ontology (GO) annotations related to this gene include 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.

Gene Wiki entry for EZR Gene

Additional gene information for EZR Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EZR Gene

Genomics for EZR Gene

GeneHancer (GH) Regulatory Elements for EZR Gene

Promoters and enhancers for EZR Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I158807 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 568.1 +5.4 5426 13.2 DMAP1 YY1 ZNF213 ZNF143 ZNF263 SP3 MEF2D GLIS1 NBN NR2C1 EZR WTAP LOC442272 RNU6-293P RSPH3 SYTL3 TMEM181 DYNLT1 TAGAP EZR-AS1
GH06I158847 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.8 -33.7 -33698 11.2 CLOCK MLX YBX1 FEZF1 SLC30A9 E2F8 ZNF548 MCM3 SP3 MEF2D WTAP DYNLT1 EZR SYTL3 LOC442272 RNU6-293P TCP1 TATDN2P2 MRPL18 TAGAP
GH06I158795 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.4 +18.2 18204 11.5 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF48 ZNF213 RUNX3 RXRA SP5 GC06M158798 EZR RNU6-293P LOC442272 RSPH3 DYNLT1 SYTL3 TMEM181 ENSG00000229502 EZR-AS1
GH06I158792 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.4 +25.7 25682 1.6 HDAC1 CTCF IRF2 RB1 ARNT BATF RAD21 RFX5 FOSL1 CC2D1A EZR RSPH3 LOC442272 RNU6-293P GC06M158798 GC06M158769 PIR57726
GH06I158825 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.3 -7.0 -6991 2.4 HDAC1 HDGF PKNOX1 FOXA2 ZBTB40 THRB ZNF335 ETV6 ATF7 IKZF2 EZR LOC442272 RNU6-293P SYTL3 DYNLT1 RSPH3 TMEM181 OSTCP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EZR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EZR gene promoter:

Genomic Locations for EZR Gene

Genomic Locations for EZR Gene
53,684 bases
Minus strand

Genomic View for EZR Gene

Genes around EZR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EZR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EZR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EZR Gene

Proteins for EZR Gene

  • Protein details for EZR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • E1P5A8
    • P23714
    • Q4VX75
    • Q96CU8
    • Q9NSJ4

    Protein attributes for EZR Gene

    586 amino acids
    Molecular mass:
    69413 Da
    Quaternary structure:
    • Interacts with MPP5 and SLC9A3R2. Found in a complex with EZR, PODXL and SLC9A3R2 (By similarity). Interacts with MCC, PLEKHG6, PODXL, SCYL3/PACE1, SLC9A3R1 and TMEM8B (PubMed:9314537, PubMed:12651155, PubMed:15498789, PubMed:17616675, PubMed:17881735, PubMed:19555689). Interacts (when phosphorylated) with FES/FPS (PubMed:18046454). Interacts with dimeric S100P, the interaction may be activating through unmasking of F-actin binding sites (PubMed:12808036, PubMed:19111582). Identified in complexes that contain VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (By similarity). Detected in a complex composed of at least EZR, AHNAK, PPL and PRX (By similarity). Interacts with PDPN (via cytoplasmic domain); activates RHOA and promotes epithelial-mesenchymal transition (PubMed:17046996).
    • Sequence=AAA61278.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB82418.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EZR Gene

neXtProt entry for EZR Gene

Post-translational modifications for EZR Gene

  • Phosphorylated by tyrosine-protein kinases. Phosphorylation by ROCK2 suppresses the head-to-tail association of the N-terminal and C-terminal halves resulting in an opened conformation which is capable of actin and membrane-binding (By similarity).
  • S-nitrosylation is induced by interferon-gamma and oxidatively-modified low-densitity lipoprotein (LDL(ox)) possibly implicating the iNOS-S100A8/9 transnitrosylase complex.
  • Ubiquitination at Lys83, posLast=139139, Lys344, and posLast=450450
  • Modification sites at PhosphoSitePlus

Other Protein References for EZR Gene

Antibody Products

No data available for DME Specific Peptides for EZR Gene

Domains & Families for EZR Gene

Gene Families for EZR Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EZR Gene

Graphical View of Domain Structure for InterPro Entry



  • The [IL]-x-C-x-x-[DE] motif is a proposed target motif for cysteine S-nitrosylation mediated by the iNOS-S100A8/A9 transnitrosylase complex.
  • The [IL]-x-C-x-x-[DE] motif is a proposed target motif for cysteine S-nitrosylation mediated by the iNOS-S100A8/A9 transnitrosylase complex.
genes like me logo Genes that share domains with EZR: view

Function for EZR Gene

Molecular function for EZR Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
A head-to-tail association, of the N-terminal and C-terminal halves results in a closed conformation (inactive form) which is incapable of actin or membrane-binding.
UniProtKB/Swiss-Prot 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 macropinocytosis.

Phenotypes From GWAS Catalog for EZR Gene

Gene Ontology (GO) - Molecular Function for EZR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,HDA 22658674
GO:0003779 actin binding IDA,IEA 17825285
GO:0005515 protein binding IPI 7844168
GO:0008017 microtubule binding IMP 23857773
GO:0008022 protein C-terminus binding IEA --
genes like me logo Genes that share ontologies with EZR: view
genes like me logo Genes that share phenotypes with EZR: view

Animal Models for EZR Gene

MGI Knock Outs for EZR:
  • Ezr tm2a(EUCOMM)Wtsi
  • Ezr tm1Aim
  • Ezr tm1Sats

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EZR Gene

Localization for EZR Gene

Subcellular locations from UniProtKB/Swiss-Prot for EZR Gene

Apical cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection. Cell projection, microvillus membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Note=Localization to the apical membrane of parietal cells depends on the interaction with MPP5. Localizes to cell extensions and peripheral processes of astrocytes (By similarity). Microvillar peripheral membrane protein (cytoplasmic side). {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EZR gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
endosome 5
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EZR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0001726 ruffle IDA 9852149
GO:0001772 colocalizes_with immunological synapse IDA 17911601
GO:0001931 uropod IEA --
GO:0005615 extracellular space IDA,HDA 16502470
genes like me logo Genes that share ontologies with EZR: view

Pathways & Interactions for EZR Gene

genes like me logo Genes that share pathways with EZR: view

SIGNOR curated interactions for EZR Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for EZR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 20551903
GO:0001951 intestinal D-glucose absorption IEA --
GO:0003376 sphingosine-1-phosphate signaling pathway IMP 23106337
GO:0007016 cytoskeletal anchoring at plasma membrane NAS 10793131
GO:0007159 leukocyte cell-cell adhesion IEP 12082081
genes like me logo Genes that share ontologies with EZR: view

Drugs & Compounds for EZR Gene

(25) Drugs for EZR Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(22) Additional Compounds for EZR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EZR: view

Transcripts for EZR Gene

Unigene Clusters for EZR Gene

Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for EZR Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b ^
SP1: - - - - - - -
SP2: - - - - - -
SP3: - -
SP4: - - - -
SP5: - - - -
SP6: - -
SP7: - -
SP9: -
SP10: -
SP12: - -

ExUns: 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19
SP1: -
SP8: -
SP11: -

Relevant External Links for EZR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EZR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EZR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EZR Gene

This gene is overexpressed in Lymph node (19.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EZR Gene

Protein tissue co-expression partners for EZR Gene

NURSA nuclear receptor signaling pathways regulating expression of EZR Gene:


SOURCE GeneReport for Unigene cluster for EZR Gene:


mRNA Expression by UniProt/SwissProt for EZR Gene:

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 protein level). Component of the microvilli of intestinal epithelial cells. Preferentially expressed in astrocytes of hippocampus, frontal cortex, thalamus, parahippocampal cortex, amygdala, insula, and corpus callosum. Not detected in neurons in most tissues studied.

Evidence on tissue expression from TISSUES for EZR Gene

  • Intestine(5)
  • Kidney(4.8)
  • Nervous system(4.8)
  • Lung(4.4)
  • Skin(4.1)
  • Stomach(3.8)
  • Eye(3.4)
  • Heart(3.2)
  • Liver(3.2)
  • Lymph node(2.9)
  • Blood(2.8)
  • Spleen(2.8)
  • Muscle(2.6)
  • Pancreas(2.4)
  • Adrenal gland(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with EZR: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EZR Gene

Orthologs for EZR Gene

This gene was present in the common ancestor of animals.

Orthologs for EZR Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EZR 33 34
  • 99.72 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 95 (a)
-- 34
  • 95 (a)
(Canis familiaris)
Mammalia EZR 33 34
  • 89.87 (n)
(Rattus norvegicus)
Mammalia Ezr 33
  • 88.85 (n)
(Mus musculus)
Mammalia Ezr 33 16 34
  • 88.62 (n)
(Bos Taurus)
Mammalia EZR 33 34
  • 88.58 (n)
(Ornithorhynchus anatinus)
Mammalia EZR 34
  • 85 (a)
(Gallus gallus)
Aves EZR 33 34
  • 82.51 (n)
(Anolis carolinensis)
Reptilia EZR 34
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ezr 33
  • 75.32 (n)
Str.11811 33
(Danio rerio)
Actinopterygii ezra 34
  • 75 (a)
ezrb 33 34
  • 74.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta Moe 34
  • 52 (a)
(Caenorhabditis elegans)
Secernentea erm-1 34
  • 57 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6897 34
  • 54 (a)
Species where no ortholog for EZR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EZR Gene

Gene Tree for EZR (if available)
Gene Tree for EZR (if available)

Paralogs for EZR Gene

Paralogs for EZR Gene

(11) SIMAP similar genes for EZR Gene using alignment to 3 proteins: Pseudogenes for EZR Gene

genes like me logo Genes that share paralogs with EZR: view

Variants for EZR Gene

Sequence variations from dbSNP and Humsavar for EZR Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1031711630 likely-benign, not specified 158,767,507(-) T/C coding_sequence_variant, synonymous_variant
rs147363431 likely-benign, not specified 158,776,408(-) A/C coding_sequence_variant, synonymous_variant
rs35947532 likely-benign, not specified 158,785,410(-) G/A/C coding_sequence_variant, intron_variant, synonymous_variant
rs773034103 likely-benign, not specified 158,767,435(-) T/A/G coding_sequence_variant, synonymous_variant
rs776473073 likely-benign, not specified 158,767,438(-) T/C/G coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for EZR Gene

Variant ID Type Subtype PubMed ID
dgv1164e199 CNV deletion 23128226
dgv3423n106 CNV deletion 24896259
esv1316592 CNV deletion 17803354
esv1726695 CNV deletion 17803354
esv2733015 CNV deletion 23290073
esv2733016 CNV deletion 23290073
esv2733018 CNV deletion 23290073
esv992884 CNV deletion 20482838
nsv1112910 CNV deletion 24896259
nsv1117679 CNV deletion 24896259
nsv1150988 CNV deletion 26484159
nsv949876 CNV duplication 24416366
nsv955923 CNV deletion 24416366

Variation tolerance for EZR Gene

Residual Variation Intolerance Score: 7.71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.62; 31.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EZR Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EZR Gene

Disorders for EZR Gene

MalaCards: The human disease database

(20) MalaCards diseases for EZR Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
vaginal disease
  • vaginal diseases
neurofibromatosis, type ii
  • nf2
chondroblastic osteosarcoma
  • chondrosarcomatous osteogenic sarcoma
  • capillary hemangioblastoma
- elite association - COSMIC cancer census association via MalaCards
Search EZR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EZR

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EZR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EZR Gene

Publications for EZR Gene

  1. Atypical protein kinase C (iota) activates ezrin in the apical domain of intestinal epithelial cells. (PMID: 18270268) Wald FA … Salas PJ (Journal of cell science 2008) 3 4 22 58
  2. Interaction of ezrin with the novel guanine nucleotide exchange factor PLEKHG6 promotes RhoG-dependent apical cytoskeleton rearrangements in epithelial cells. (PMID: 17881735) D'Angelo R … Arpin M (Molecular biology of the cell 2007) 3 4 22 58
  3. Podocalyxin increases the aggressive phenotype of breast and prostate cancer cells in vitro through its interaction with ezrin. (PMID: 17616675) Sizemore S … Casey G (Cancer research 2007) 3 4 22 58
  4. Ca2+-dependent binding and activation of dormant ezrin by dimeric S100P. (PMID: 12808036) Koltzscher M … Gerke V (Molecular biology of the cell 2003) 3 4 22 58
  5. Identification of the two major epidermal growth factor-induced tyrosine phosphorylation sites in the microvillar core protein ezrin. (PMID: 1382070) Krieg J … Hunter T (The Journal of biological chemistry 1992) 3 4 22 58

Products for EZR Gene

  • Addgene plasmids for EZR

Sources for EZR Gene

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