EZR ezrin [Homo sapiens (human)] - Gene

Summary

Official Symbol: EZRprovided by HGNC
Official Full Name: ezrinprovided by HGNC
Primary source: HGNC:HGNC:12691
See related: Ensembl:ENSG00000092820 MIM:123900; AllianceGenome:HGNC:12691
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: mouse all
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Genomic context

Location:: 6q25.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (158765748..158819368, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (160010984..160064812, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (159186780..159240400, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variant in EZR leads to defects in lens development.
Title: Variant in EZR leads to defects in lens development.
Ezrin Modulates the Cell Surface Expression of Programmed Cell Death Ligand-1 in Human Cervical Adenocarcinoma Cells.
Title: Ezrin Modulates the Cell Surface Expression of Programmed Cell Death Ligand-1 in Human Cervical Adenocarcinoma Cells.
Ezrin inhibition alleviates oxidative stress and pyroptosis via regulating TRPML1-calcineurin axis mediated enhancement of autophagy in spinal cord injury.
Title: Ezrin inhibition alleviates oxidative stress and pyroptosis via regulating TRPML1-calcineurin axis mediated enhancement of autophagy in spinal cord injury.
Inherited human ezrin deficiency impairs adaptive immunity.
Title: Inherited human ezrin deficiency impairs adaptive immunity.
Prenylated PALM2 Promotes the Migration of Esophageal Squamous Cell Carcinoma Cells Through Activating Ezrin.
Title: Prenylated PALM2 Promotes the Migration of Esophageal Squamous Cell Carcinoma Cells Through Activating Ezrin.
Ez-Metastasizing: The Crucial Roles of Ezrin in Metastasis.
Title: Ez-Metastasizing: The Crucial Roles of Ezrin in Metastasis.
Integrative multiomics analysis identifies a metastasis-related gene signature and the potential oncogenic role of EZR in breast cancer.
Title: Integrative multiomics analysis identifies a metastasis-related gene signature and the potential oncogenic role of EZR in breast cancer.
Podoplanin promotes the carcinogenicity of gastric cancer by activating ezrin and mediating the crosstalk between tumour cells and cancer-associated fibroblasts.
Title: Podoplanin promotes the carcinogenicity of gastric cancer by activating ezrin and mediating the crosstalk between tumour cells and cancer-associated fibroblasts.
Telocytes and ezrin expression in normal-appearing tissues adjacent to urothelial bladder carcinoma as predictors of invasiveness and recurrence.
Title: Telocytes and ezrin expression in normal-appearing tissues adjacent to urothelial bladder carcinoma as predictors of invasiveness and recurrence.
Ezrin and Its Phosphorylated Thr567 Form Are Key Regulators of Human Extravillous Trophoblast Motility and Invasion.
Title: Ezrin and Its Phosphorylated Thr567 Form Are Key Regulators of Human Extravillous Trophoblast Motility and Invasion.

Submit: New GeneRIF Correction See all GeneRIFs (385)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide interaction study of smoking and bladder cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91385 (e-PCR)
- UniSTS:83712

SHGC-146276 (e-PCR)
- UniSTS:172579

SHGC-30156 (e-PCR)
- UniSTS:50998

D6S1614 (e-PCR)
- UniSTS:77642

RH46601 (e-PCR)
- UniSTS:81496

SHGC-149418 (e-PCR)
- UniSTS:176994

D15S1323 (e-PCR)
- UniSTS:24804

RH27492 (e-PCR)
- UniSTS:86776

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA binding	HDA more info	PubMed
enables S100 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
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 more info	PubMed
enables cell adhesion molecule binding	IBA Inferred from Biological aspect of Ancestor more info
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 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 organization	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 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 positive regulation of early endosome to late endosome transport	IBA Inferred from Biological aspect of Ancestor more info
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 catabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein localization to early endosome	IBA Inferred from Biological aspect of Ancestor 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 postsynaptic actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
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 protein-containing complex localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in receptor internalization	IEA Inferred from Electronic Annotation more info
NOT involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell shape	IBA Inferred from Biological aspect of Ancestor more info
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
NOT involved_in regulation of non-canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of organelle assembly	IBA Inferred from Biological aspect of Ancestor 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 actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in actin filament	IDA Inferred from Direct Assay more info	PubMed
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in apical part of cell	IBA Inferred from Biological aspect of Ancestor more info
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 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 periphery	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
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 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 more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in fibrillar center	IDA Inferred from Direct Assay more info
is_active_in filopodium	IBA Inferred from Biological aspect of Ancestor more info
located_in filopodium	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	HDA more info	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 more info	PubMed
is_active_in microvillus	IBA Inferred from Biological aspect of Ancestor 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
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
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 more info	PubMed

General protein information

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Preferred Names: ezrin

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

NCBI Reference Sequences (RefSeq)

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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

NG_052952.1 RefSeqGene

Range

5057..58677

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001111077.2 → NP_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

E1P5A8, P15311, P23714, Q4VX75, Q96CU8, Q9NSJ4

UniProtKB/TrEMBL

B2R6J2, V9HW42

Related

ENSP00000356042.3, ENST00000367075.4

Conserved Domains (3) summary

smart00295
Location:7 → 206

B41; Band 4.1 homologues

cd13194
Location:200 → 296

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:338 → 586

ERM; Ezrin/radixin/moesin family
NM_003379.5 → NP_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

E1P5A8, P15311, P23714, Q4VX75, Q96CU8, Q9NSJ4

UniProtKB/TrEMBL

B2R6J2, V9HW42

Related

ENSP00000338934.7, ENST00000337147.11

Conserved Domains (3) summary

smart00295
Location:7 → 206

B41; Band 4.1 homologues

cd13194
Location:200 → 296

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:338 → 586

ERM; Ezrin/radixin/moesin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

158765748..158819368 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011536110.2 → XP_011534412.1 ezrin isoform X1

See identical proteins and their annotated locations for XP_011534412.1

UniProtKB/TrEMBL

B7Z437

Conserved Domains (3) summary

cd13194
Location:64 → 160

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00373
Location:20 → 70

FERM_M; FERM central domain

pfam00769
Location:202 → 450

ERM; Ezrin/radixin/moesin family