Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EZR (ezrin)

Identity

Alias_namesVIL2
villin 2 (ezrin)
Other aliasCVIL
CVL
HEL-S-105
HGNC (Hugo) EZR
LocusID (NCBI) 7430
Atlas_Id 44029
Location 7q36.1  [Link to chromosome band 7q36]
Location_base_pair Starts at 158765741 and ends at 158818308 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACO2 (22q13.2) / EZR (6q25.3)ANXA2 (15q22.2) / EZR (6q25.3)ASCC2 (22q12.2) / EZR (6q25.3)
EZR (6q25.3) / ANP32B (9q22.33)EZR (6q25.3) / C1orf50 (1p34.2)EZR (6q25.3) / CYB5R1 (1q32.1)
EZR (6q25.3) / ERBB4 (2q34)EZR (6q25.3) / EZR (6q25.3)EZR (6q25.3) / FADS2 (11q12.2)
EZR (6q25.3) / IFT43 (14q24.3)EZR (6q25.3) / INSR (19p13.2)EZR (6q25.3) / NBAS (2p24.3)
EZR (6q25.3) / PPP2R5C (14q32.31)EZR (6q25.3) / ROS1 (6q22.1)FADS2 (11q12.2) / EZR (6q25.3)
INTS8 (8q22.1) / EZR (6q25.3)PNRC1 (6q15) / EZR (6q25.3)RNF114 (20q13.13) / EZR (6q25.3)
ROS1 (6q22.1) / EZR (6q25.3)SLC12A8 (3q21.2) / EZR (6q25.3)ZNF511 (10q26.3) / EZR (6q25.3)
EZR ROS1EZR 6q25.3 / C1orf50 1p34.2EZR 6q25.3 / ROS1 6q22.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Bone: Conventional Osteosarcoma
Lung: Translocations in Adenocarcinoma
inv(6)(q22q25) EZR/ROS1
t(1;6)(p34;q25) EZR/C1orf50


External links

Nomenclature
HGNC (Hugo)EZR   12691
Cards
Entrez_Gene (NCBI)EZR  7430  ezrin
AliasesCVIL; CVL; HEL-S-105; VIL2
GeneCards (Weizmann)EZR
Ensembl hg19 (Hinxton)ENSG00000092820 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000092820 [Gene_View]  ENSG00000092820 [Sequence]  chr6:158765741-158818308 [Contig_View]  EZR [Vega]
ICGC DataPortalENSG00000092820
TCGA cBioPortalEZR
AceView (NCBI)EZR
Genatlas (Paris)EZR
WikiGenes7430
SOURCE (Princeton)EZR
Genetics Home Reference (NIH)EZR
Genomic and cartography
GoldenPath hg38 (UCSC)EZR  -     chr6:158765741-158818308 -  7q36.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EZR  -     7q36.1   [Description]    (hg19-Feb_2009)
EnsemblEZR - 7q36.1 [CytoView hg19]  EZR - 7q36.1 [CytoView hg38]
Mapping of homologs : NCBIEZR [Mapview hg19]  EZR [Mapview hg38]
OMIM123900   
Gene and transcription
Genbank (Entrez)AF187552 AF188896 AF188897 AF189213 AF190059
RefSeq transcript (Entrez)NM_001111077 NM_003379
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EZR
Cluster EST : UnigeneHs.487027 [ NCBI ]
CGAP (NCI)Hs.487027
Alternative Splicing GalleryENSG00000092820
Gene ExpressionEZR [ NCBI-GEO ]   EZR [ EBI - ARRAY_EXPRESS ]   EZR [ SEEK ]   EZR [ MEM ]
Gene Expression Viewer (FireBrowse)EZR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7430
GTEX Portal (Tissue expression)EZR
Human Protein AtlasENSG00000092820-EZR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15311   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15311  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15311
Splice isoforms : SwissVarP15311
PhosPhoSitePlusP15311
Domaine pattern : Prosite (Expaxy)FERM_1 (PS00660)    FERM_2 (PS00661)    FERM_3 (PS50057)   
Domains : Interpro (EBI)Band_41_domain    ERM    ERM_C_dom    Ez/rad/moesin-like    FERM/acyl-CoA-bd_prot_sf    FERM_2    FERM_central    FERM_CS    FERM_domain    FERM_N    FERM_PH-like_C    Moesin_tail_sf    PH-like_dom_sf    Ubiquitin-like_domsf   
Domain families : Pfam (Sanger)ERM (PF00769)    FERM_C (PF09380)    FERM_M (PF00373)    FERM_N (PF09379)   
Domain families : Pfam (NCBI)pfam00769    pfam09380    pfam00373    pfam09379   
Domain families : Smart (EMBL)B41 (SM00295)  FERM_C (SM01196)  
Conserved Domain (NCBI)EZR
DMDM Disease mutations7430
Blocks (Seattle)EZR
PDB (SRS)1NI2    4RM8    4RM9    4RMA   
PDB (PDBSum)1NI2    4RM8    4RM9    4RMA   
PDB (IMB)1NI2    4RM8    4RM9    4RMA   
PDB (RSDB)1NI2    4RM8    4RM9    4RMA   
Structural Biology KnowledgeBase1NI2    4RM8    4RM9    4RMA   
SCOP (Structural Classification of Proteins)1NI2    4RM8    4RM9    4RMA   
CATH (Classification of proteins structures)1NI2    4RM8    4RM9    4RMA   
SuperfamilyP15311
Human Protein Atlas [tissue]ENSG00000092820-EZR [tissue]
Peptide AtlasP15311
HPRD00475
IPIIPI00843975   IPI00872684   IPI00384282   
Protein Interaction databases
DIP (DOE-UCLA)P15311
IntAct (EBI)P15311
FunCoupENSG00000092820
BioGRIDEZR
STRING (EMBL)EZR
ZODIACEZR
Ontologies - Pathways
QuickGOP15311
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  fibrillar center  ruffle  immunological synapse  immunological synapse  uropod  intestinal D-glucose absorption  sphingosine-1-phosphate signaling pathway  RNA binding  actin binding  protein binding  extracellular space  cytoplasm  endosome  cytosol  cytosol  actin filament  plasma membrane  microvillus  brush border  focal adhesion  focal adhesion  cytoskeletal anchoring at plasma membrane  leukocyte cell-cell adhesion  axon guidance  microtubule binding  protein C-terminus binding  regulation of cell shape  regulation of cell size  positive regulation of gene expression  protein kinase A signaling  actin cytoskeleton  membrane  basolateral plasma membrane  apical plasma membrane  extrinsic component of membrane  protein domain specific binding  gland morphogenesis  membrane to membrane docking  microvillus assembly  filopodium  T-tubule  cortical cytoskeleton  astral microtubule organization  microvillus membrane  actin cytoskeleton reorganization  receptor internalization  vesicle  regulation of microvillus length  ruffle membrane  regulation of actin cytoskeleton organization  protein-containing complex  protein kinase A catalytic subunit binding  protein kinase A regulatory subunit binding  cellular protein-containing complex localization  ciliary basal body  TCR signalosome  positive regulation of multicellular organism growth  identical protein binding  cell projection  myelin sheath  cortical microtubule organization  cell body  microspike  S100 protein binding  plasma membrane raft  apical part of cell  establishment of epithelial cell apical/basal polarity  cadherin binding  filopodium assembly  phosphatidylinositol-mediated signaling  perinuclear region of cytoplasm  positive regulation of protein secretion  cell adhesion molecule binding  negative regulation of T cell receptor signaling pathway  actin filament binding  actin filament bundle assembly  protein kinase A binding  ATPase binding  cell tip  establishment of centrosome localization  establishment of endothelial barrier  extracellular exosome  negative regulation of ERK1 and ERK2 cascade  cellular response to cAMP  invadopodium  cell periphery  protein localization to plasma membrane  protein localization to cell cortex  astrocyte projection  Schwann cell microvillus  disordered domain specific binding  cytoplasmic side of apical plasma membrane  negative regulation of interleukin-2 secretion  regulation of NIK/NF-kappaB signaling  regulation of organelle assembly  regulation of organelle assembly  terminal web assembly  positive regulation of protein localization to early endosome  positive regulation of protein localization to plasma membrane  positive regulation of cellular protein catabolic process  negative regulation of p38MAPK cascade  positive regulation of early endosome to late endosome transport  positive regulation of early endosome to late endosome transport  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  fibrillar center  ruffle  immunological synapse  immunological synapse  uropod  intestinal D-glucose absorption  sphingosine-1-phosphate signaling pathway  RNA binding  actin binding  protein binding  extracellular space  cytoplasm  endosome  cytosol  cytosol  actin filament  plasma membrane  microvillus  brush border  focal adhesion  focal adhesion  cytoskeletal anchoring at plasma membrane  leukocyte cell-cell adhesion  axon guidance  microtubule binding  protein C-terminus binding  regulation of cell shape  regulation of cell size  positive regulation of gene expression  protein kinase A signaling  actin cytoskeleton  membrane  basolateral plasma membrane  apical plasma membrane  extrinsic component of membrane  protein domain specific binding  gland morphogenesis  membrane to membrane docking  microvillus assembly  filopodium  T-tubule  cortical cytoskeleton  astral microtubule organization  microvillus membrane  actin cytoskeleton reorganization  receptor internalization  vesicle  regulation of microvillus length  ruffle membrane  regulation of actin cytoskeleton organization  protein-containing complex  protein kinase A catalytic subunit binding  protein kinase A regulatory subunit binding  cellular protein-containing complex localization  ciliary basal body  TCR signalosome  positive regulation of multicellular organism growth  identical protein binding  cell projection  myelin sheath  cortical microtubule organization  cell body  microspike  S100 protein binding  plasma membrane raft  apical part of cell  establishment of epithelial cell apical/basal polarity  cadherin binding  filopodium assembly  phosphatidylinositol-mediated signaling  perinuclear region of cytoplasm  positive regulation of protein secretion  cell adhesion molecule binding  negative regulation of T cell receptor signaling pathway  actin filament binding  actin filament bundle assembly  protein kinase A binding  ATPase binding  cell tip  establishment of centrosome localization  establishment of endothelial barrier  extracellular exosome  negative regulation of ERK1 and ERK2 cascade  cellular response to cAMP  invadopodium  cell periphery  protein localization to plasma membrane  protein localization to cell cortex  astrocyte projection  Schwann cell microvillus  disordered domain specific binding  cytoplasmic side of apical plasma membrane  negative regulation of interleukin-2 secretion  regulation of NIK/NF-kappaB signaling  regulation of organelle assembly  regulation of organelle assembly  terminal web assembly  positive regulation of protein localization to early endosome  positive regulation of protein localization to plasma membrane  positive regulation of cellular protein catabolic process  negative regulation of p38MAPK cascade  positive regulation of early endosome to late endosome transport  positive regulation of early endosome to late endosome transport  
Pathways : KEGGLeukocyte transendothelial migration    Regulation of actin cytoskeleton    Gastric acid secretion    Pathogenic Escherichia coli infection    Proteoglycans in cancer    MicroRNAs in cancer   
NDEx NetworkEZR
Atlas of Cancer Signalling NetworkEZR
Wikipedia pathwaysEZR
Orthology - Evolution
OrthoDB7430
GeneTree (enSembl)ENSG00000092820
Phylogenetic Trees/Animal Genes : TreeFamEZR
HOVERGENP15311
HOGENOMP15311
Homologs : HomoloGeneEZR
Homology/Alignments : Family Browser (UCSC)EZR
Gene fusions - Rearrangements
Fusion : MitelmanEZR/C1orf50 [6q25.3/1p34.2]  
Fusion : MitelmanEZR/ROS1 [6q25.3/6q22.1]  [inv(6)(q22q25)]  [t(6;6)(q22;q25)]  
Fusion PortalEZR 6q25.3 C1orf50 1p34.2 OV
Fusion PortalEZR 6q25.3 ROS1 6q22.1 LUAD
Fusion : QuiverEZR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEZR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EZR
dbVarEZR
ClinVarEZR
1000_GenomesEZR 
Exome Variant ServerEZR
ExAC (Exome Aggregation Consortium)ENSG00000092820
GNOMAD BrowserENSG00000092820
Varsome BrowserEZR
Genetic variants : HAPMAP7430
Genomic Variants (DGV)EZR [DGVbeta]
DECIPHEREZR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEZR 
Mutations
ICGC Data PortalEZR 
TCGA Data PortalEZR 
Broad Tumor PortalEZR
OASIS PortalEZR [ Somatic mutations - Copy number]
Cancer Gene: CensusEZR 
Somatic Mutations in Cancer : COSMICEZR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEZR
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EZR
DgiDB (Drug Gene Interaction Database)EZR
DoCM (Curated mutations)EZR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EZR (select a term)
intoGenEZR
Cancer3DEZR(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123900   
Orphanet11804   
DisGeNETEZR
MedgenEZR
Genetic Testing Registry EZR
NextProtP15311 [Medical]
TSGene7430
GENETestsEZR
Target ValidationEZR
Huge Navigator EZR [HugePedia]
snp3D : Map Gene to Disease7430
BioCentury BCIQEZR
ClinGenEZR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7430
Chemical/Pharm GKB GenePA162385512
Clinical trialEZR
Miscellaneous
canSAR (ICR)EZR (select the gene name)
Probes
Litterature
PubMed484 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEZR
EVEXEZR
GoPubMedEZR
iHOPEZR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Aug 16 11:00:56 CEST 2018

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