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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
  • Villin-2 3 4
  • VIL2 3 4
  • P81 3 4
  • Epididymis Secretory Protein Li 105 3
  • Cytovillin 4
  • HEL-S-105 3
  • 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 Arrhythmogenic right ventricular cardiomyopathy (ARVC) and LKB1 signaling events. GO annotations related to this gene include poly(A) RNA binding and 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

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

Genomics for EZR Gene

Regulatory Elements for EZR Gene

Enhancers for EZR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F158807 1.8 FANTOM5 Ensembl ENCODE 18 +5.5 5490 13.4 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 EZR LOC442272 RNU6-293P RSPH3 SYTL3 TMEM181 DYNLT1 TAGAP EZR-AS1 GC06M158798
GH06F158847 1.9 FANTOM5 Ensembl ENCODE 13.7 -33.7 -33698 11.2 CREB3L1 MLX FEZF1 YBX1 SLC30A9 ZNF548 MCM3 SP3 TBX21 MEF2D LOC442272 OSTCP1 ENSG00000238019 SYNJ2-IT1 LOC105378078 EZR SYTL3 RNU6-293P DYNLT1 TAGAP
GH06F158795 1.2 Ensembl ENCODE 15.4 +18.2 18204 11.5 PKNOX1 WRNIP1 ZNF133 ARID4B SIN3A FEZF1 ZNF48 CBX5 SP5 MIER2 EZR RNU6-293P LOC442272 RSPH3 DYNLT1 SYTL3 TMEM181 ENSG00000229502 GC06M158798 EZR-AS1
GH06F158786 1.1 FANTOM5 Ensembl ENCODE 15.7 +30.4 30424 5.5 ZNF362 SMARCA4 POLR2A HLF ZNF384 NFE2 ZIC2 EZR RSPH3 TMEM181 SYTL3 TAGAP GC06M158798 PIR57726 GC06M158769
GH06F158825 1.1 Ensembl ENCODE 15.3 -7.0 -6992 2.4 HDGF HDAC1 CBX3 CREB3L1 PTRF THRB GATA2 ETV6 CREM EGR2 EZR LOC442272 RNU6-293P DYNLT1 SYTL3 RSPH3 TMEM181 OSTCP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EZR on UCSC Golden Path with GeneCards custom track

Promoters for EZR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001502082 1524 4201 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for EZR Gene

Chromosome:
6
Start:
158,765,741 bp from pter
End:
158,819,424 bp from pter
Size:
53,684 bases
Orientation:
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:
    P15311-EZRI_HUMAN
    Recommended name:
    Ezrin
    Protein Accession:
    P15311
    Secondary Accessions:
    • E1P5A8
    • P23714
    • Q4VX75
    • Q96CU8
    • Q9NSJ4

    Protein attributes for EZR Gene

    Size:
    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).
    SequenceCaution:
    • 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 Lys 83, Lys 139, Lys 344, and Lys 450
  • Modification sites at PhosphoSitePlus

Other Protein References for EZR Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EZR (Ezrin)

No data available for DME Specific Peptides for EZR Gene

Domains & Families for EZR Gene

Suggested Antigen Peptide Sequences for EZR Gene

Graphical View of Domain Structure for InterPro Entry

P15311

UniProtKB/Swiss-Prot:

EZRI_HUMAN :
  • 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.
Domain:
  • 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.
  • Contains 1 FERM domain.
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.

Gene Ontology (GO) - Molecular Function for EZR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,IDA 17825285
GO:0005515 protein binding IPI 7844168
GO:0008017 microtubule binding IMP 23857773
GO:0008092 cytoskeletal protein binding IEA --
GO:0019904 protein domain specific binding IEA,IPI 25554515
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 tm1Sats
  • Ezr tm1Aim

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EZR

Flow Cytometry 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for EZR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 9852149
GO:0001772 colocalizes_with immunological synapse IDA 17911601
GO:0001931 uropod IEA --
GO:0005615 extracellular space IDA 16502470
GO:0005622 intracellular IEA --
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

Activates:
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 from RNA polymerase II promoter 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

Ezrin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EZR

Flow Cytometry 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: - -
SP8:
SP9: -
SP10: -
SP11:
SP12: - -
SP13:

ExUns: 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11: -
SP12:
SP13:

Relevant External Links for EZR Gene

GeneLoc Exon Structure for
EZR
ECgene alternative splicing isoforms for
EZR

Expression for EZR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

EZR

SOURCE GeneReport for Unigene cluster for EZR Gene:

Hs.487027

mRNA Expression by UniProt/SwissProt for EZR Gene:

P15311-EZRI_HUMAN
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.
genes like me logo Genes that share expression patterns with EZR: view

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia EZR 34 35
  • 99.72 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 95 (a)
OneToMany
-- 35
  • 95 (a)
OneToMany
dog
(Canis familiaris)
Mammalia EZR 34 35
  • 89.87 (n)
rat
(Rattus norvegicus)
Mammalia Ezr 34
  • 88.85 (n)
mouse
(Mus musculus)
Mammalia Ezr 34 16 35
  • 88.62 (n)
cow
(Bos Taurus)
Mammalia EZR 34 35
  • 88.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EZR 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves EZR 34 35
  • 82.51 (n)
lizard
(Anolis carolinensis)
Reptilia EZR 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ezr 34
  • 75.32 (n)
Str.11811 34
zebrafish
(Danio rerio)
Actinopterygii ezra 35
  • 75 (a)
OneToMany
ezrb 34 35
  • 74.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta Moe 35
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea erm-1 35
  • 57 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6897 35
  • 54 (a)
OneToMany
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

ENSEMBL:
Gene Tree for EZR (if available)
TreeFam:
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.org 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 Sequence Context AA Info Type
rs1038537 -- 158,771,013(-) CAGGC(C/T)AGGGT intron-variant
rs1056973 -- 158,770,845(-) GAGAG(A/G)AAGAG reference, missense
rs1056974 -- 158,770,844(-) AGAGA(A/G)AGAGC reference, missense
rs1057038 -- 158,766,323(-) TGGAT(A/T)TTTTT downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime
rs1057386 -- 158,765,836(-) TCCTT(C/T)TCGTG upstream-variant-2KB, utr-variant-3-prime

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

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

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)

Relevant External Links for EZR Gene

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

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

Disorders for EZR Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
vaginal disease
  • vaginal diseases
inflammatory mfh
  • xanthosarcoma
neurofibromatosis, type 2
  • neurofibromatosis, type ii
chondroblastic osteosarcoma
  • chondrosarcomatous osteogenic sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search EZR in MalaCards View complete list of genes associated with diseases

Relevant External Links for EZR

Genetic Association Database (GAD)
EZR
Human Genome Epidemiology (HuGE) Navigator
EZR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EZR
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 F.A. … Salas P.J. (J. Cell Sci. 2008) 3 4 22 64
  2. 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 Res. 2007) 3 4 22 64
  3. 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. (Mol. Biol. Cell 2007) 3 4 22 64
  4. Ca2+-dependent binding and activation of dormant ezrin by dimeric S100P. (PMID: 12808036) Koltzscher M. … Gerke V. (Mol. Biol. Cell 2003) 3 4 22 64
  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. (J. Biol. Chem. 1992) 3 4 22 64

Products for EZR Gene

Sources for EZR Gene

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