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    EZR ezrin [ Homo sapiens (human) ]

    Gene ID: 7430, updated on 6-Sep-2021

    Summary

    Official Symbol
    EZRprovided by HGNC
    Official Full Name
    ezrinprovided by HGNC
    Primary source
    HGNC:HGNC:12691
    See related
    Ensembl:ENSG00000092820 MIM:123900
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CVL; CVIL; VIL2; HEL-S-105
    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 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]
    Expression
    Ubiquitous expression in placenta (RPKM 124.6), small intestine (RPKM 120.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See EZR in Genome Data Viewer
    Location:
    6q25.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (158765744..158819368, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (159186780..159240400, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene synaptotagmin like 3 Neighboring gene AMZ2 pseudogene 2 Neighboring gene microRNA 3918 Neighboring gene EZR antisense RNA 1 Neighboring gene oligosaccharyltransferase complex subunit pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2901

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide interaction study of smoking and bladder cancer risk.
    GeneReviews: Not available

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    siRNA knockdown of EZR enhances HIV-1 replication; HIV-1 replication is restricted by EZR PubMed
    Knockdown of ezrin by shRNA results in the production of virus with decreased infectivity and the enhancement of HIV-1-induced cell-cell fusion PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Interaction of the X4-tropic protein HIV-1 gp120 with CD4 augments ezrin and moesin phosphorylation in human permissive T cells, thereby regulating ezrin-moesin activation PubMed
    env HIV-1 gp120-mediated CD4 engagement is involved in the induction of susceptibility of primary human T lymphocytes to CD95-mediated apoptosis through ezrin phosphorylation and ezrin-to-CD95 association PubMed
    env Treatment of CD4+ T cells with HIV-1 gp120 induces CD95-mediated apoptosis, CD95/ERM protein (ezrin, radixin, moesin) colocalization and stable ezrin phosphorylation PubMed
    env Ezrin and moesin are structural proteins that bind to the cellular membrane and interact with HIV-1 gp120/gp160 in CD4- and Gal-C-negative brain cells; ezrin and moesin play a role as gp120/gp160 binding proteins during the uptake of HIV PubMed
    Nef nef Knockdown of ezrin by siRNA enhances HIV-1 infectivity and inhibits HIV-1 Nef ability to increase virus infectivity, neither activity is affected by ezrin overexpression PubMed
    Pr55(Gag) gag HIV-1 Gag co-localizes with ezrin-radixin-moesin proteins at polarized HIV-1 assembly sites in human T cells PubMed
    gag The cytoskeletal proteins ezrin, moesin, and cofilin are incorporated into HIV-1 particles, presumably through their interaction with actin which binds to the nucleocapsid domain of HIV-1 Gag PubMed
    Tat tat Expression of HIV-1 Tat downregulates the abundance of ezrin (EZR) in the nucleoli of Jurkat T-cells PubMed
    Vpr vpr HIV-1 Vpr-induced downregulation of sodium hydrogen exchanger, isoform 1 (NHE1), in Vpr(+) virus infected cells leads to acidification of cells, loss of ezrin, radixin and moesin (ERM) protein complex and decrease of AKT phosphorylation PubMed
    vpr HIV-1 Vpr-expressing Jurkat T cell clones showed a significant upregulation of ezrin protein expression, indicating a role of Vpr in microfilament system assembly PubMed
    matrix gag HIV-1 MA interacts with EZR PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC1584, FLJ26216, DKFZp762H157

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables S100 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cadherin binding HDA PubMed 
    enables cell adhesion molecule binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables disordered domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables microtubule binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein C-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase A binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase A catalytic subunit binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase A regulatory subunit binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton reorganization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in actin filament bundle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in astral microtubule organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular protein-containing complex localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to cAMP IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cortical microtubule organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of centrosome localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of endothelial barrier IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    NOT involved_in establishment of epithelial cell apical/basal polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in filopodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in gland morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intestinal D-glucose absorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in leukocyte cell-cell adhesion IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in membrane to membrane docking IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in microvillus assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of T cell receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interleukin-2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of p38MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phosphatidylinositol-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cellular protein catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of early endosome to late endosome transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of early endosome to late endosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein localization to early endosome IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein kinase A signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to cell cortex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in receptor internalization IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in regulation of NIK/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in regulation of actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in regulation of cell size IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of microvillus length IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of organelle assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of organelle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sphingosine-1-phosphate receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in terminal web assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Schwann cell microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in T-tubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in astrocyte projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in brush border ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell periphery IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell tip IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cortical cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic side of apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    located_in extrinsic component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion HDA PubMed 
    colocalizes_with focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with immunological synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in immunological synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in microspike IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microvillus membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in uropod IEA
    Inferred from Electronic Annotation
    more info
     
    located_in vesicle HDA PubMed 

    General protein information

    Preferred Names
    ezrin
    Names
    cytovillin 2
    epididymis secretory protein Li 105
    p81
    villin 2 (ezrin)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052952.1 RefSeqGene

      Range
      6190..58677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001111077.2NP_001104547.1  ezrin

      See identical proteins and their annotated locations for NP_001104547.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC013903, DA754543
      Consensus CDS
      CCDS5258.1
      UniProtKB/Swiss-Prot
      P15311
      Related
      ENSP00000356042.3, ENST00000367075.4
      Conserved Domains (3) summary
      smart00295
      Location:7206
      B41; Band 4.1 homologues
      cd13194
      Location:200296
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:338586
      ERM; Ezrin/radixin/moesin family
    2. NM_003379.5NP_003370.2  ezrin

      See identical proteins and their annotated locations for NP_003370.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC013903, DA783190
      Consensus CDS
      CCDS5258.1
      UniProtKB/Swiss-Prot
      P15311
      Related
      ENSP00000338934.7, ENST00000337147.11
      Conserved Domains (3) summary
      smart00295
      Location:7206
      B41; Band 4.1 homologues
      cd13194
      Location:200296
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:338586
      ERM; Ezrin/radixin/moesin family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      158765744..158819368 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536110.1XP_011534412.1  ezrin isoform X1

      See identical proteins and their annotated locations for XP_011534412.1

      Conserved Domains (3) summary
      cd13194
      Location:64160
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00373
      Location:2070
      FERM_M; FERM central domain
      pfam00769
      Location:202450
      ERM; Ezrin/radixin/moesin family
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