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EZR Gene

protein-coding   GIFtS: 65
GCID: GC06M159186

Ezrin

(Previous name: villin 2 (ezrin))
(Previous symbol: VIL2)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ezrin1 2     CVIL2
VIL21 2 3 5     HEL-S-1052
Villin 2 (Ezrin)1 2     Epididymis Secretory Protein Li 1052
Cytovillin 21 2     villin-22
p812 3     Cytovillin3
CVL2 5     Villin-23

External Ids:    HGNC: 126911   Entrez Gene: 74302   Ensembl: ENSG000000928207   OMIM: 1239005   UniProtKB: P153113   

Export aliases for EZR gene to outside databases

Previous GC identifers: GC06M159106 GC06M156657


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pleomorphic malignant fibrous histiocytoma, and chondroblastic osteosarcoma. GO annotations related to this gene include actin filament binding and cell adhesion molecule binding. An important paralog of this gene is MSN.

UniProtKB/Swiss-Prot: EZRI_HUMAN, P15311
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 Wiki entry for EZR (Ezrin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EZR gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEZR promoter sequence
   Search Chromatin IP Primers for EZR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EZR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q25.3   Ensembl cytogenetic band:  6q25.3   HGNC cytogenetic band: 6q25.3

EZR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EZR gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M159186:  view genomic region     (about GC identifiers)

Start:
159,186,773 bp from pter      End:
159,240,456 bp from pter
Size:
53,684 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: EZRI_HUMAN, P15311 (See protein sequence)
Recommended Name: Ezrin  
Size: 586 amino acids; 69413 Da
Subunit: 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. Interacts (when phosphorylated) with
FES/FPS. Interacts with dimeric S100P, the interaction may be activating through unmasking of F-actin binding
sites
Developmental stage: Very strong staining is detected in the Purkinje cell layer and in part of the molecular
layer of the infant brain compared to adult brain
Sequence caution: Sequence=AAA61278.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAB82418.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for EZR:
1NI2 (3D)    
Secondary accessions: E1P5A8 P23714 Q4VX75 Q96CU8 Q9NSJ4

Explore the universe of human proteins at neXtProt for EZR: NX_P15311

Explore proteomics data for EZR at MOPED

Post-translational modifications: 

  • 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)1
  • Ubiquitination2 at Lys35, Lys79, Lys83, Lys139, Lys237, Lys296, Lys344, Lys450
  • Modification sites at PhosphoSitePlus

  • See EZR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001104547.1  NP_003370.2  

    ENSEMBL proteins: 
     ENSP00000338934   ENSP00000356042   ENSP00000376016  
    Reactome Protein details: P15311

    EZR Human Recombinant Protein Products:

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    Novus Biologicals EZR Proteins
    Novus Biologicals EZR Lysates
    Sino Biological Recombinant Protein for EZR
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    EZR Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of EZR
    R&D Systems Antibodies for EZR (Ezrin)
    Cell Signaling Technology (CST) Antibodies for EZR  (ezrin)
    OriGene Antibodies for EZR
    OriGene Custom Antibody Services for EZR
    Novus Biologicals EZR Antibodies
    Abcam antibodies for EZR (P15311, P26038)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for EZR
    LSBio Antibodies in human, mouse, rat for EZR

    EZR Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EZR
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AKAP: A-kinase anchor proteins

    Selected InterPro protein domains (see all 13):
     IPR019748 FERM_central
     IPR019750 Band_41_fam
     IPR000798 Ez/rad/moesin_like
     IPR008954 Moesin_tail
     IPR019747 FERM_CS

    Graphical View of Domain Structure for InterPro Entry P15311

    ProtoNet protein and cluster: P15311

    2 Blocks protein domains:
    IPB000299 Band 4.1 domain
    IPB000798 ERM family signature


    UniProtKB/Swiss-Prot: EZRI_HUMAN, P15311
    Similarity: Contains 1 FERM domain


    EZR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EZRI_HUMAN, P15311
    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
    Enzyme regulation: 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 (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ----
    GO:0005515protein binding IPI10793131
    GO:0008092cytoskeletal protein binding ----
    GO:0019904protein domain specific binding IEA--
    GO:0032403protein complex binding ----
         
    EZR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EZR:
     Increased S DNA content, incre 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ezr):
     digestive/alimentary  embryogenesis  growth/size/body  homeostasis/metabolism  immune system 
     mortality/aging 

    EZR for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EZR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EZR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EZR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EZR

    miRNA
    Products:
        
    miRTarBase miRNAs that target EZR:
    hsa-mir-1180-3p (MIRT035925), hsa-mir-204-5p (MIRT005825), hsa-mir-186-5p (MIRT045001), hsa-mir-328-3p (MIRT043797), hsa-mir-18a-5p (MIRT031338), hsa-mir-25-3p (MIRT050361), hsa-mir-183-5p (MIRT004349), hsa-mir-92a-3p (MIRT049846), hsa-mir-149-5p (MIRT045629), hsa-mir-615-3p (MIRT040344), hsa-mir-222-3p (MIRT046802)

    Block miRNA regulation of human, mouse, rat EZR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EZR (see all 29):
    hsa-miR-623 hsa-miR-3607-3p hsa-miR-495 hsa-miR-520d-5p hsa-miR-376b hsa-miR-1271 hsa-miR-410 hsa-miR-548m
    SwitchGear 3'UTR luciferase reporter plasmidEZR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EZR
    Predesigned siRNA for gene silencing in human, mouse, rat EZR

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for EZR (see all 12)
    OriGene ORF clones in mouse, rat for EZR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EZR (NM_003379)
    Sino Biological Human cDNA Clone for EZR
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EZR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EZR

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for EZR
    Browse ESI BIO Cell Lines and PureStem Progenitors for EZR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EZR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EZRI_HUMAN, P15311: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    plasma membrane5
    nucleus4
    endosome1
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IDA9852149
    GO:0001931uropod IEA--
    GO:0005622intracellular ----
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm ----

    EZR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EZR About   (see all 25)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    2Development Slit Robo signaling
    Pathogenic Escherichia coli infection0.43
    Pathogenic Escherichia coli infection0.41
    3L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    4Regulation of CFTR activity norm and CF
    Regulation of CFTR activity norm and CF 0.38
    wtCFTR and deltaF508 traffic Membrane expression norm and CF 0.38
    5Transcription Androgen Receptor nuclear signaling
    Transcription Androgen Receptor nuclear signaling0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for EZR
        RhoA Pathway
    Calpain Protease Regulates Cellular Mechanics
    Rho Family GTPases
    Transendothelial Migration of Leukocytes

    1 Cell Signaling Technology (CST) Pathway for EZR
        Cytoskeletal Signaling

    Selected GeneGo (Thomson Reuters) Pathways for EZR (see all 11)
        G-protein signaling Regulation of RAC1 activity
    Transcription Androgen Receptor nuclear signaling
    G-protein signaling Rac2 regulation pathway
    Regulation of CFTR activity (norm and CF)
    G-protein signaling Regulation of CDC42 activity

    Selected BioSystems Pathways for EZR (see all 7)
        AGE/RAGE pathway
    Regulation of Actin Cytoskeleton
    Pathogenic Escherichia coli infection
    LKB1 signaling events
    Syndecan-2-mediated signaling events


    2 Reactome Pathways for EZR
        Recycling pathway of L1
    Netrin-1 signaling


    Selected Kegg Pathways  (Kegg details for EZR) (see all 6):
        Leukocyte transendothelial migration
    Regulation of actin cytoskeleton
    Gastric acid secretion
    Pathogenic Escherichia coli infection
    Proteoglycans in cancer


    EZR for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EZR: 
              Cytoskeleton Regulators in human mouse rat
              Multiple Sclerosis in human mouse rat
              Cell Motility in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for EZR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EZR (P153111, 2, 3 ENSP000003389344) via UniProtKB, MINT, STRING, and/or I2D (see all 196)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FESP073321, 2, 3, ENSP000003315044EBI-1056902,EBI-1055635 MINT-6380399 MINT-6380367 MINT-6380517 MINT-6380771 MINT-8035497 MINT-6380786 MINT-6380343 MINT-8035482 I2D: score=1 STRING: ENSP00000331504
    SLC9A3R1O147452, 3, ENSP000002626134MINT-73256 MINT-7211237 I2D: score=4 STRING: ENSP00000262613
    CAPN1P073841, 2, ENSP000002792474EBI-1056902,EBI-1542113 MINT-8385943 MINT-8385967 STRING: ENSP00000279247
    CAPN6Q9Y6Q12, 3, ENSP000003172144MINT-73253 I2D: score=1 STRING: ENSP00000317214
    MDM2Q009871, 3, ENSP000004172814EBI-1056902,EBI-389668 I2D: score=1 STRING: ENSP00000417281
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007016cytoskeletal anchoring at plasma membrane NAS10793131
    GO:0007159leukocyte cell-cell adhesion IEP12082081
    GO:0007411axon guidance TAS--
    GO:0008360regulation of cell shape IEA--
    GO:0010628positive regulation of gene expression IGI--

    EZR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EZR (EZRI)

    Selected Novoseek inferred chemical compound relationships for EZR gene (see all 47)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytochalasin d 51.7 9 16352594 (1), 7876308 (1), 11352493 (1), 17088428 (1) (see all 5)
    tyrosine 51 79 9052872 (6), 9013127 (4), 8025951 (3), 15623525 (3) (see all 43)
    pip2 50.9 10 14993232 (3), 18502807 (2), 19204146 (1), 7498535 (1)
    threonine 41.7 10 11387207 (3), 16648854 (1), 10893267 (1), 16394012 (1) (see all 8)
    matrigel 35.7 9 10660086 (2), 17325147 (2), 15737688 (2), 18552365 (1)
    phosphoinositide 34.2 8 15047866 (1), 9705328 (1), 15096511 (1), 15531580 (1) (see all 7)
    phosphatidylinositol 33.4 9 10377409 (2), 17827228 (2), 16054017 (1), 17507466 (1) (see all 7)
    calyculin a 31 2 8862788 (1)
    phalloidin 28.8 1 9105044 (1)
    phosphotyrosine 24 8 8862788 (2), 9013127 (2), 12560083 (1), 12535520 (1)



    EZR for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EZR gene (2 alternative transcripts): 
    NM_001111077.1  NM_003379.4  

    Unigene Cluster for EZR:

    Ezrin
    Hs.487027  [show with all ESTs]
    Unigene Representative Sequence: NM_003379
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337147(uc011efr.2 uc003qrt.4 uc011efs.2) ENST00000367075(uc003qru.4)
    ENST00000476189 ENST00000392177
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat EZR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EZR (see all 29):
    hsa-miR-623 hsa-miR-3607-3p hsa-miR-495 hsa-miR-520d-5p hsa-miR-376b hsa-miR-1271 hsa-miR-410 hsa-miR-548m
    SwitchGear 3'UTR luciferase reporter plasmidEZR 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EZR
    Clone
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    OriGene ORF clones in mouse, rat for EZR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EZR (NM_003379)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EZR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EZR
    Primer
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    OriGene qPCR primer pairs and template standards for EZR
    OriGene qSTAR qPCR primer pairs in human, mouse for EZR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EZR
      QuantiTect SYBR Green Assays in human, mouse, rat EZR
      QuantiFast Probe-based Assays in human, mouse, rat EZR

    Additional mRNA sequence: 

    AF187552.1 AF188896.1 AF188897.1 AF189213.1 AF190059.1 AF199015.1 AK129727.1 AK296738.1 
    AK299456.1 AK312597.1 AK316031.1 AL162086.1 BC013903.2 BC068458.1 J05021.1 X51521.1 

    Selected DOTS entries (see all 42):

    DT.97864729  DT.85104829  DT.91930653  DT.95165388  DT.100669614  DT.97819665  DT.87004915  DT.95165382 
    DT.95165403  DT.95165372  DT.91768391  DT.427130  DT.91946282  DT.95165453  DT.121306464  DT.95165420 
    DT.95165431  DT.95284576  DT.121306421  DT.121306455  DT.85104828  DT.95165496  DT.100860526  DT.121306478 

    Selected AceView cDNA sequences (see all 964):

    BM749119 BU431605 BM978403 AI147151 BM834208 BQ690556 R39976 BF886677 
    BM477147 AW128941 BG325310 AW402978 AI816093 AW848944 BM844124 AL547980 
    AW376703 BG754562 AW376603 BM835247 BQ711502 BQ010559 AW376760 BQ934575 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EZR (see all 13)    About this scheme

    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:                                      -           -     -     -                                                                                             

    ExUns: 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19
    SP1:        -                           
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for EZR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EZR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATAAAAGC
    EZR Expression
    About this image


    EZR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 25) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Corneal Epithelium
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Neural Ectoderm (Nervous System)    fully expand to see all 2 entries
             Spinal Neural Plate Cells Neural Plate
             Neural Plate
    EZR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EZR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.487027

    UniProtKB/Swiss-Prot: EZRI_HUMAN, P15311
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EZR: 
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              Cell Motility in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for EZR gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ezr1 , 5 ezrin1, 5 88.62(n)1
    96.59(a)1
      17 (4.38 cM)5
    223501  NM_009510.21  NP_033536.21 
     67380415 
    chicken
    (Gallus gallus)
    Aves EZR1 ezrin 82.51(n)
    90.26(a)
      395701  NM_204885.1  NP_990216.1 
    lizard
    (Anolis carolinensis)
    Reptilia EZR6
    ezrin
    90(a)
    1 ↔ 1
    1(212679026-212727084)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.118112 Transcribed sequence with moderate similarity to protein more 78.83(n)    BX687442.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ezrb1 ezrin b 74.63(n)
    79.73(a)
      561589  NM_001030285.2  NP_001025456.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Moe6
    Moesin
    52(a)
    1 → many
    X(8767045-8792365)
    worm
    (Caenorhabditis elegans)
    Secernentea erm-16
    Protein ERM-1, isoform b (erm-1) mRNA, complete cd...
    57(a)
    1 → many
    I(5284057-5291604) WBGene00001333


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EZR gene
    MSN2  MYLIP2  FRMD4A2  FRMD4B2  NF22  RDX2  C1orf1062  
    11 SIMAP similar genes for EZR using alignment to 3 protein entries:     EZRI_HUMAN (see all proteins):
    VIL2    EZR-ROS1    RDX    MSN    DKFZp434I0812    NF2
    PTPN4    EPB41L1    EPB41L4A    FRMD4B    FRMD5

    EZR for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for EZR
    PGOHUM00000238122


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EZR (see all 1354)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs31271671,2
    C,F,A--156713086(-) AGGGTA/CAAGTT 1 -- us2k1 tfbs39Minor allele frequency- C:0.45NA WA CSA EA 370
    rs1875953941,2
    --159187820(+) TTGGGC/TAACTG 2 -- ut310--------
    rs794944791,2
    C,F--159187849(+) ATCTGA/GGGGAG 2 -- ut311Minor allele frequency- G:0.03NA 120
    rs58812861,2
    C--159187878(+) TAAAG-/ACACAAG 2 -- ut310--------
    rs30627091,2
    C--159187879(-) GCTTG-/G/TG  
            
    TCTTT
    4 -- ut311NA 2
    rs412671431,2
    C,F--159187891(+) GTGGCG/AGGGCT 2 -- ut311Minor allele frequency- A:0.00EU 593
    rs562338111,2
    C--159187906(+) GCGCCC/TGCTAT 2 -- ut311Minor allele frequency- T:0.00EU 593
    rs2013083331,2
    C--159187912(+) GCTATA/GAGCAC 2 -- ut310--------
    rs22301451,2
    C,F,H--159187924(-) AAGGGC/TAGAGG 2 -- ut31 ese37Minor allele frequency- T:0.01MN NS EA NA EU 1915
    rs2009198891,2
    --159187939(+) CTGGCC/TTGGCT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for EZR (159186773 - 159240456 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for EZR:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2733016CNV Deletion23290073
    esv1726695CNV Deletion17803354
    dgv1164e199CNV Deletion23128226
    esv1316592CNV Deletion17803354
    esv2733018CNV Deletion23290073
    esv992884CNV Deletion20482838
    esv2733015CNV Deletion23290073
    esv272622CNV Insertion20981092
    esv268739CNV Insertion20981092

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 123900    OMIM disorders: --

    Selected diseases for EZR (see all 106):    
    About MalaCards
    pleomorphic malignant fibrous histiocytoma    chondroblastic osteosarcoma    pediatric ependymoma    cancer progression/metastasis
    ependymoma    prostate cancer, progression and metastasis of    hemangioblastoma    osteosarcoma
    pediatric osteosarcoma    myxofibrosarcoma    ovarian epithelial cancer    gastrointestinal stromal tumor
    neurofibromatosis    congenital nystagmus    fibrous histiocytoma    bacterial vaginosis
    histiocytoma    neuroma    nasopharyngitis    cerebral cavernous malformations 3

    2 diseases from the University of Copenhagen DISEASES database for EZR:
    Neurofibromatosis     Bacterial vaginosis

    EZR for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for EZR gene (see all 62)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurofibromatosis type 2 83.6 12 9748471 (2), 9378774 (1), 9553042 (1), 15467741 (1) (see all 11)
    osteosarcoma 51.1 58 16677779 (9), 19809563 (6), 19331807 (5), 17886294 (4) (see all 16)
    tumors 50.3 179 15475929 (5), 16538541 (4), 19786985 (4), 11092524 (3) (see all 94)
    metastasis 49.5 96 16536996 (4), 14704791 (3), 17043968 (3), 19399936 (3) (see all 50)
    meningioma 48.7 5 18190852 (1), 8586465 (1), 8808698 (1), 17640904 (1) (see all 5)
    schwannoma 48.6 5 9403715 (3), 9811451 (1), 11368764 (1)
    cancer 31.6 56 17370041 (6), 12711360 (2), 14704791 (1), 17914868 (1) (see all 35)
    ependymoma 28.8 3 18716553 (1), 11106550 (1), 8579099 (1)
    rhabdomyosarcoma 26.6 4 15121044 (1), 16488997 (1), 19060919 (1)
    neuroma acoustic 25.9 1 8586465 (1)

    Genetic Association Database (GAD): EZR
    Human Genome Epidemiology (HuGE) Navigator: EZR (10 documents)

    Export disorders for EZR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EZR gene, integrated from 10 sources (see all 710):
    (articles sorted by number of sources associating them with EZR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction of ezrin with the novel guanine nucleotide exchange factor PLEKHG6 promotes RhoG-dependent apical cytoskeleton rearrangements in epithelial cells. (PubMed id 17881735)1, 2, 9 D'Angelo R....Arpin M. (Mol. Biol. Cell 2007)
    2. Atypical protein kinase C (iota) activates ezrin in the apical domain of intestinal epithelial cells. (PubMed id 18270268)1, 2, 9 Wald F.A....Salas P.J. (J. Cell Sci. 2008)
    3. Podocalyxin increases the aggressive phenotype of breast and prostate cancer cells in vitro through its interaction with ezrin. (PubMed id 17616675)1, 2, 9 Sizemore S.... Casey G. (Cancer Res. 2007)
    4. Characterization of the NF2 protein merlin and the ERM protein ezrin in human, rat, and mouse central nervous system. (PubMed id 15797715)1, 2, 9 Groenholm M.... Carpen O. (Mol. Cell. Neurosci. 2005)
    5. Structure of the active N-terminal domain of Ezrin. Conformational and mobility changes identify keystone interactions. (PubMed id 12429733)1, 2, 9 Smith W.J.... Karplus P.A. (J. Biol. Chem. 2003)
    6. PACE-1, a novel protein that interacts with the C-terminal domain of ezrin. (PubMed id 12651155)1, 2, 9 Sullivan A.... Thorne R.F. (Exp. Cell Res. 2003)
    7. Identification of EBP50: a PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family. (PubMed id 9314537)1, 2, 9 Reczek D.... Bretscher A. (J. Cell Biol. 1997)
    8. Ca2+-dependent binding and activation of dormant ezrin by dimeric S100P. (PubMed id 12808036)1, 2, 9 Koltzscher M.... Gerke V. (Mol. Biol. Cell 2003)
    9. Identification of the two major epidermal growth factor-induced tyrosine phosphorylation sites in the microvillar core protein ezrin. (PubMed id 1382070)1, 2, 9 Krieg J. and Hunter T. (J. Biol. Chem. 1992)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7430 HGNC: 12691 AceView: VIL2 Ensembl:ENSG00000092820 euGenes: HUgn7430
    ECgene: EZR Kegg: 7430 H-InvDB: EZR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for EZR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EZR gene:
    Search GeneIP for patents involving EZR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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