Human Gene EZR (ENST00000367075.4_10) from GENCODE V47lift37
  Description: ezrin, transcript variant 2 (from RefSeq NM_001111077.2)
Gencode Transcript: ENST00000367075.4_10
Gencode Gene: ENSG00000092820.19_15
Transcript (Including UTRs)
   Position: hg19 chr6:159,186,780-159,240,400 Size: 53,621 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr6:159,187,946-159,239,125 Size: 51,180 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:159,186,780-159,240,400)mRNA (may differ from genome)Protein (586 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EZRI_HUMAN
DESCRIPTION: RecName: Full=Ezrin; AltName: Full=Cytovillin; AltName: Full=Villin-2; AltName: Full=p81;
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).
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.
INTERACTION: Q00987:MDM2; NbExp=3; IntAct=EBI-1056902, EBI-389668; Q8IZE3:SCYL3; NbExp=4; IntAct=EBI-1056902, EBI-1380680;
SUBCELLULAR LOCATION: 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).
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.
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.
PTM: 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).
SIMILARITY: Contains 1 FERM domain.
SEQUENCE CAUTION: Sequence=AAA61278.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB82418.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EZR
Diseases sorted by gene-association score: autosomal recessive non-syndromic intellectual disability* (94), vaginal disease (17), inflammatory mfh (15), neurofibromatosis, type 2 (14), chondroblastic osteosarcoma (10), hemangioblastoma (9), neisseria meningitidis infection (8), osteosarcoma, somatic (7), neurilemmoma (7), vaginitis (6), subdural empyema (6), granulomatous hepatitis (5), deafness, autosomal recessive 24 (5), meningioma, familial (5), peptic ulcer perforation (4), nasopharyngeal carcinoma (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 146.47 RPKM in Small Intestine - Terminal Ileum
Total median expression: 2705.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -42.30125-0.338 Picture PostScript Text
3' UTR -360.501166-0.309 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019749 - Band_41_domain
IPR019750 - Band_41_fam
IPR011174 - ERM
IPR011259 - ERM_C
IPR000798 - Ez/rad/moesin
IPR014352 - FERM/acyl-CoA-bd_prot_3-hlx
IPR019748 - FERM_central
IPR019747 - FERM_CS
IPR000299 - FERM_domain
IPR018979 - FERM_N
IPR018980 - FERM_PH-like_C
IPR008954 - Moesin
IPR011993 - PH_like_dom

Pfam Domains:
PF00373 - FERM central domain
PF00769 - Ezrin/radixin/moesin family
PF09379 - FERM N-terminal domain
PF09380 - FERM C-terminal PH-like domain

SCOP Domains:
47031 - Second domain of FERM
48678 - Moesin tail domain
50729 - PH domain-like
88723 - PIN domain-like
54236 - Ubiquitin-like
54277 - CAD & PB1 domains

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1NI2 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P15311
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0008022 protein C-terminus binding
GO:0008092 cytoskeletal protein binding
GO:0019904 protein domain specific binding
GO:0034236 protein kinase A catalytic subunit binding
GO:0034237 protein kinase A regulatory subunit binding
GO:0042802 identical protein binding
GO:0044548 S100 protein binding
GO:0044877 macromolecular complex binding
GO:0045296 cadherin binding
GO:0050839 cell adhesion molecule binding
GO:0051015 actin filament binding
GO:0051018 protein kinase A binding
GO:0051117 ATPase binding
GO:0097718 disordered domain specific binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001951 intestinal D-glucose absorption
GO:0003376 sphingosine-1-phosphate signaling pathway
GO:0007016 cytoskeletal anchoring at plasma membrane
GO:0007159 leukocyte cell-cell adhesion
GO:0007411 axon guidance
GO:0008360 regulation of cell shape
GO:0010628 positive regulation of gene expression
GO:0010737 protein kinase A signaling
GO:0022614 membrane to membrane docking
GO:0030033 microvillus assembly
GO:0030855 epithelial cell differentiation
GO:0030953 astral microtubule organization
GO:0031532 actin cytoskeleton reorganization
GO:0031623 receptor internalization
GO:0032532 regulation of microvillus length
GO:0034629 cellular protein complex localization
GO:0035088 establishment or maintenance of apical/basal cell polarity
GO:0040018 positive regulation of multicellular organism growth
GO:0043622 cortical microtubule organization
GO:0046847 filopodium assembly
GO:0048015 phosphatidylinositol-mediated signaling
GO:0050714 positive regulation of protein secretion
GO:0050860 negative regulation of T cell receptor signaling pathway
GO:0051017 actin filament bundle assembly
GO:0051660 establishment of centrosome localization
GO:0061028 establishment of endothelial barrier
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:0071320 cellular response to cAMP
GO:0072659 protein localization to plasma membrane
GO:0072697 protein localization to cell cortex
GO:1900041 negative regulation of interleukin-2 secretion
GO:1902115 regulation of organelle assembly
GO:1902896 terminal web assembly
GO:1902966 positive regulation of protein localization to early endosome
GO:1903078 positive regulation of protein localization to plasma membrane
GO:1903364 positive regulation of cellular protein catabolic process
GO:1903753 negative regulation of p38MAPK cascade
GO:2000643 positive regulation of early endosome to late endosome transport
GO:0008361 regulation of cell size
GO:0022612 gland morphogenesis
GO:0032956 regulation of actin cytoskeleton organization
GO:0045198 establishment of epithelial cell apical/basal polarity
GO:1901222 regulation of NIK/NF-kappaB signaling

Cellular Component:
GO:0001650 fibrillar center
GO:0001726 ruffle
GO:0001772 immunological synapse
GO:0001931 uropod
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005884 actin filament
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0005903 brush border
GO:0005925 focal adhesion
GO:0005938 cell cortex
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0019898 extrinsic component of membrane
GO:0030175 filopodium
GO:0030315 T-tubule
GO:0030863 cortical cytoskeleton
GO:0031528 microvillus membrane
GO:0031982 vesicle
GO:0032587 ruffle membrane
GO:0032991 macromolecular complex
GO:0036064 ciliary basal body
GO:0042995 cell projection
GO:0043209 myelin sheath
GO:0044297 cell body
GO:0044393 microspike
GO:0044853 plasma membrane raft
GO:0045121 membrane raft
GO:0045177 apical part of cell
GO:0048471 perinuclear region of cytoplasm
GO:0051286 cell tip
GO:0070062 extracellular exosome
GO:0071437 invadopodium
GO:0071944 cell periphery
GO:0097449 astrocyte projection
GO:0097454 Schwann cell microvillus
GO:0098592 cytoplasmic side of apical plasma membrane
GO:0036398 TCR signalosome


-  Descriptions from all associated GenBank mRNAs
  BC013903 - Homo sapiens ezrin, mRNA (cDNA clone MGC:1584 IMAGE:2959399), complete cds.
AK129727 - Homo sapiens cDNA FLJ26216 fis, clone ADG08003, highly similar to Ezrin.
FJ224318 - Homo sapiens epididymis secretory protein Li 105 (HEL-S-105) mRNA, complete cds.
X51521 - Human mRNA for ezrin.
BC068458 - Homo sapiens ezrin, mRNA (cDNA clone MGC:87052 IMAGE:4819793), complete cds.
AL162086 - Homo sapiens mRNA; cDNA DKFZp762H157 (from clone DKFZp762H157); complete cds.
JD151340 - Sequence 132364 from Patent EP1572962.
J05021 - Human cytovillin 2 (VIL2) mRNA, complete cds.
JD562426 - Sequence 543450 from Patent EP1572962.
JD233827 - Sequence 214851 from Patent EP1572962.
JD563032 - Sequence 544056 from Patent EP1572962.
JD157737 - Sequence 138761 from Patent EP1572962.
JD431375 - Sequence 412399 from Patent EP1572962.
AK316031 - Homo sapiens cDNA, FLJ78930 complete cds, highly similar to Ezrin.
JD563773 - Sequence 544797 from Patent EP1572962.
JD023143 - Sequence 4167 from Patent EP1572962.
JD116488 - Sequence 97512 from Patent EP1572962.
JD516523 - Sequence 497547 from Patent EP1572962.
JD397965 - Sequence 378989 from Patent EP1572962.
JD029762 - Sequence 10786 from Patent EP1572962.
JD080350 - Sequence 61374 from Patent EP1572962.
JD539108 - Sequence 520132 from Patent EP1572962.
JD181904 - Sequence 162928 from Patent EP1572962.
JD477610 - Sequence 458634 from Patent EP1572962.
JD277153 - Sequence 258177 from Patent EP1572962.
JD109677 - Sequence 90701 from Patent EP1572962.
AK296738 - Homo sapiens cDNA FLJ53435 complete cds, highly similar to Ezrin.
JD426003 - Sequence 407027 from Patent EP1572962.
JD243594 - Sequence 224618 from Patent EP1572962.
JD289077 - Sequence 270101 from Patent EP1572962.
AK299456 - Homo sapiens cDNA FLJ54141 complete cds, highly similar to Ezrin.
AK312597 - Homo sapiens cDNA, FLJ92973, highly similar to Homo sapiens villin 2 (ezrin) (VIL2), mRNA.
DQ892754 - Synthetic construct clone IMAGE:100005384; FLH189382.01X; RZPDo839E0774D villin 2 (ezrin) (VIL2) gene, encodes complete protein.
KJ892376 - Synthetic construct Homo sapiens clone ccsbBroadEn_01770 EZR gene, encodes complete protein.
DQ895999 - Synthetic construct Homo sapiens clone IMAGE:100010459; FLH189378.01L; RZPDo839E0764D villin 2 (ezrin) (VIL2) gene, encodes complete protein.
AB590235 - Synthetic construct DNA, clone: pFN21AE1417, Homo sapiens EZR gene for ezrin, without stop codon, in Flexi system.
CQ873730 - Sequence 149 from Patent WO2004076622.
DD413567 - Regulation of Mammalian Cells.
DQ574253 - Homo sapiens piRNA piR-42365, complete sequence.
DQ580912 - Homo sapiens piRNA piR-49024, complete sequence.
DQ596615 - Homo sapiens piRNA piR-34681, complete sequence.
AF189213 - Homo sapiens ezrin mRNA, partial cds.
AF188897 - Homo sapiens ovary ezrin mRNA, partial cds.
AF199015 - Homo sapiens cytovillin 2 (VIL2) mRNA, partial cds.
AF190059 - Homo sapiens cytovillin 2 (VIL2) mRNA, partial cds.
AF188896 - Homo sapiens brain ezrin mRNA, partial cds.
AF187552 - Homo sapiens ezrin mRNA, partial cds.
CU680698 - Synthetic construct Homo sapiens gateway clone IMAGE:100018368 5' read VIL2 mRNA.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ucalpainPathway - uCalpain and friends in Cell spread
h_mCalpainPathway - mCalpain and friends in Cell motility
h_cftrPathway - Cystic fibrosis transmembrane conductance regulator (CFTR) and beta 2 adrenergic receptor (b2AR) pathway

Reactome (by CSHL, EBI, and GO)

Protein P15311 (Reactome details) participates in the following event(s):

R-HSA-374662 Translocation of Ezrin to plasma membrane
R-HSA-374663 DCC interaction with Ezrin
R-HSA-374664 Phosphorylation and activation of Ezrin
R-HSA-374677 L1 binds ERM family members
R-HSA-445089 Dephosphorylation of pL1 (Y1176)
R-HSA-374680 L1 trans-homophilic interaction
R-NUL-443049 L1 dimer binds Ankyrin
R-HSA-443779 Linkage of L1 with treadmilling F-actin
R-HSA-373752 Netrin-1 signaling
R-HSA-422475 Axon guidance
R-HSA-437239 Recycling pathway of L1
R-HSA-1266738 Developmental Biology
R-HSA-373760 L1CAM interactions

-  Other Names for This Gene
  Alternate Gene Symbols: E1P5A8, ENST00000367075.1, ENST00000367075.2, ENST00000367075.3, EZRI_HUMAN, NM_001111077, P15311, P23714, Q4VX75, Q96CU8, Q9NSJ4, uc318fpq.1, uc318fpq.2, VIL2
UCSC ID: ENST00000367075.4_10
RefSeq Accession: NM_001111077.2
Protein: P15311 (aka EZRI_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.