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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EZR Gene

protein-coding GIFtS: 64
GCID: GC06M159186

ezrin

(Previous name: villin 2 (ezrin) )
(Previous symbol: VIL2)

Explore 95 diseases affiliated with
EZR via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ezrin¹		CVIL²
VIL2¹ ² ³ ⁵		Cytovillin 2²
Villin 2 (Ezrin)¹ ²		Villin-2³
P81¹		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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EZR:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_025741.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EZR gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EZR promoter sequence

Search SABiosciences Chromatin IP Primers for EZR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

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)

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

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

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P15311

EZR Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001104547.1 NP_003370.2

ENSEMBL proteins:

ENSP00000338934 ENSP00000356042 ENSP00000376016

Reactome Protein details: P15311
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 2): EZR OriGene Protein Over-expression Lysate (see all 2): EZR OriGene Custom Protein Services for EZR
	GenScript Custom Purified and Recombinant Proteins Services for EZR
	Novus Biologicals EZR Proteins Novus Biologicals EZR Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for EZR

Gene Ontology (GO): 5/21 cellular component terms (GO ID links to tree view) (see all 21): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001726	ruffle	IDA	9852149
GO:0001931	uropod	IEA	--
GO:0005622	intracellular	--	--
GO:0005730	nucleolus	IDA	--
GO:0005737	cytoplasm	--	--

EZR for ontologies About GeneDecksing

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 (see all 7): EZR OriGene Custom Antibody Services for EZR
	GenScript Superior Antibodies for EZR
	Novus Biologicals EZR Antibodies
	Abcam antibodies for EZR
	Uscn Antibodies for EZR
	ThermoFisher Antibody for EZR

Assay Products for EZR:

	EMD Millipore Kits and Assays for the Analysis of EZR
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for EZR
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for EZR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

EZR for domains About GeneDecksing

5/13 InterPro domains/families (see all 13):

IPR019748 FERM_central

IPR019750 Band_41_fam

IPR000798 Ez/rad/moesin

IPR008954 Moesin

IPR019747 FERM_CS

Graphical View of Domain Structure for InterPro Entry P15311

ProtoNet protein and cluster: P15311

2 Blocks protein families:

IPB000299 Band 4.1 domain

IPB000798 ERM family signature

UniProtKB/Swiss-Prot: EZRI_HUMAN, P15311

Similarity: Contains 1 FERM domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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)

miRNA Products:		miRTarBase miRNAs that target EZR: hsa-mir-204 (MIRT005825), hsa-mir-183 (MIRT004349)

		OriGene 3'-UTR Clone (see all 2): EZR Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EZR
		8/29 QIAGEN miScript miRNA 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 plasmid: EZR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EZR (see all 4) OriGene shRNA RFP: EZR OriGene siRNA: EZR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EZR

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for EZR

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EZR (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EZR (see all 3) 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)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EZR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EZR

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for EZR
		Search LifeMap BioReagents cell lines for EZR

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EZR

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--
GO:0008092	cytoskeletal protein binding	--	--
GO:0050839	cell adhesion molecule binding	IPI	15498789
GO:0051015	actin filament binding	IDA	10793131

EZR for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for EZR:

Increased S DNA content, incre

Animal Models:
6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Ezr):

digestive/alimentary	embryogenesis	growth/size	homeostasis/metabolism	immune system
mortality/aging

EZR for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/19 super-pathways (see all 19) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

G-protein signaling Regulation of RAC1 activity

G-protein signaling Regulation of RAC1 activity	1.00	G-protein signaling_Regulation of CDC42 activity	0.25
G-protein signaling_Regulation of RAC1 activity	0.88	G-protein signaling_Rac2 regulation pathway	0.16
G-protein signaling Regulation of CDC42 activity	0.25	G-protein signaling Rac2 regulation pathway	0.16

G-protein signaling_RhoA regulation pathway

	G-protein signaling_RhoA regulation pathway	1.00			G-protein signaling_RhoB regulation pathway	0.16
	G-protein signaling RhoA regulation pathway	1.00			G-protein signaling RhoB regulation pathway	0.16

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69			Recycling pathway of L1	0.15

wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

1.00

Regulation of CFTR activity (norm and CF)

0.38

Transcription_Androgen Receptor nuclear signaling

Transcription_Androgen Receptor nuclear signaling

1.00

Transcription Androgen Receptor nuclear signaling

0.99

Pathway sources
See GeneCards unified pathways
Show all pathways

5/8 EMD Millipore Pathways for EZR (see all 8)

	G-protein signaling Regulation of CDC42 activity
	Transcription Androgen Receptor nuclear signaling
	Signal transduction Calcium signaling
	G-protein signaling Rac2 regulation pathway
	G-protein signaling RhoB regulation pathway

1 Cell Signaling Technology (CST) Pathway for EZR

Cytoskeletal Signaling

5/11 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

5/7 BioSystems Pathways for EZR (see all 7)

	AGE/RAGE pathway
	Pathogenic Escherichia coli infection
	Regulation of Actin Cytoskeleton
	LKB1 signaling events
	RhoA signaling pathway

5 Reactome Pathways for EZR

	L1CAM interactions
	Recycling pathway of L1
	Developmental Biology
	Netrin-1 signaling
	Axon guidance

4 Kegg Pathways (Kegg details for EZR):

	Leukocyte transendothelial migration
	Regulation of actin cytoskeleton
	Gastric acid secretion
	Pathogenic Escherichia coli infection

EZR for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for EZR

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

5/165 Interacting proteins for EZR (P15311^{1, 2, 3} ENSP00000338934⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 165)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FES	P07332²^,³, ENSP00000331504⁴	MINT-6380367 MINT-6380517 MINT-6380771 MINT-6380343 MINT-8035482 MINT-6380399 MINT-8035497 MINT-6380786 I2D: score=1 STRING: ENSP00000331504
SLC9A3R1	O14745²^,³, ENSP00000262613⁴	MINT-73256 MINT-7211237 I2D: score=4 STRING: ENSP00000262613
CAPN6	Q9Y6Q1²^,³, ENSP00000317214⁴	MINT-73253 I2D: score=1 STRING: ENSP00000317214
MDM2	Q00987¹^,³, ENSP00000417281⁴	EBI-1056902,EBI-389668 I2D: score=1 STRING: ENSP00000417281
PLCB3	Q01970²^,³, ENSP00000279230⁴	MINT-73254 I2D: score=1 STRING: ENSP00000279230

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007016	cytoskeletal anchoring at plasma membrane	NAS	10793131
GO:0007159	leukocyte cell-cell adhesion	IEP	12082081
GO:0007411	axon guidance	TAS	--
GO:0008360	regulation of cell shape	IEA	--
GO:0022614	membrane to membrane docking	IEP	12082081

EZR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

EZR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EZR
10/47 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about EZR / EZRI

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): EZR Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EZR
		8/29 QIAGEN miScript miRNA 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 plasmid: EZR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EZR (see all 4) OriGene shRNA RFP: EZR OriGene siRNA: EZR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EZR

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EZR (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EZR (see all 3) 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 Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EZR Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat EZR
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EZR
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EZR

Additional cDNA 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

24/42 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

24/964 AceView cDNA sequences (see all 964):

AW407614 AW051768 BM718465 H24380 AW849095 AW376716 AW848801 BQ058814

BE312481 BU552637 BM464585 CF121637 CB159577 BM680466 BQ690556 BQ430743

BQ026985 BP365128 BG437033 CR594430 BM907300 AA983511 BP338662 BM834208

GeneLoc Exon Structure

5/13 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

EZR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAATAAAAGC

About this image

EZR expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/12 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 12)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Retinal Pigmented Epithelium

Mature Retinal Pigmented Epithelium Cells

Selective marker (cell-identifying gene)

Retinal Pigmented Epithelium

Gut Tube

Hindgut

Hindgut Endoderm Cells

Endoderm

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Brain

Brain

Eye

Gut Tube

Gut Tube

Lung

Mesencephalic Ventricular Zone

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

See EZR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EZR

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

SABiosciences Expression via Pathway-Focused PCR Arrays including EZR:

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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

This gene was present in the common ancestor of animals.

Orthologs for EZR gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	EZR¹	ezrin	82.51(n) 90.26(a)		395701 NM_204885.1 NP_990216.1
lizard (Anolis carolinensis)	Reptilia	EZR⁶	--	86(a)	1 ↔ 1	1(212697160-212727559)
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	75.1(n) 80.21(a)		561589 NM_001030285.2 NP_001025456.1
fruit fly (Drosophila melanogaster)	Insecta	Moe⁶	Moesin	51(a)	1 → many	X(8767045-8792365)
worm (Caenorhabditis elegans)	Secernentea	erm-1⁶	Ezrin/Radixin/Moesin family member (erm-1)	55(a)	1 → many	I(5284060-5291608)

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)
About This Section

Paralogs for EZR gene

MSN² FRMD4A² NF2² FRMD4B² 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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2011914^1,2	C,F,A,	--	159186381(+)	`ataggC/Tatgca`	7	--	ds500¹ us2k¹		6		NA WA CSA	12
rs189517967^1,2		--	159186388(+)	`TGCACA/CACCAC`	7	--	us2k¹ ds500¹		0	--	--	--	--
rs181018925^1,2		--	159186408(+)	`ATTTTC/TGTATT`	7	--	ds500¹ us2k¹		0	--	--	--	--
rs186433273^1,2		--	159186409(+)	`TTTTCA/GTATTT`	3	--	ds500¹ us2k¹		0	--	--	--	--
rs140173568^1,2	C,	--	159186412(+)	`CGTAT-/TTTTAGTAA AGATGGGGTTTCTTTTA`	3	--	ds500¹ us2k¹		0	--	--	--	--
rs189793075^1,2		--	159186467(+)	`CCTGAC/TCTCGT`	3	--	ds500¹ us2k¹		0	--	--	--	--
rs2011924^1,2		--	159186470(-)	`atcacG/Aaggtc`	3	--	us2k¹ ds500¹		1		NA	2
rs139025350^1,2		--	159186556(+)	`AGGAGC/GCTGAT`	3	--	ds500¹ us2k¹		0	--	--	--	--
rs117946944^1,2		--	159186586(+)	`CTCTCC/ATGTGG`	3	--	us2k¹ ds500¹		1		NA	120
rs181537661^1,2		--	159186617(+)	`GGTGAC/TCCATG`	3	--	ds500¹ us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for EZR (159186773 - 159240456 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for EZR
1 Indel: 28134

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

EZR for disorders           About GeneDecksing

OMIM gene information: 123900    OMIM disorders: --

20/95 diseases for EZR (see all 95):    About MalaCards

von hippel-lindau disease malignant fibrous histiocytoma pleomorphic malignant fibrous histiocytoma fibrous histiocytoma

gastrointestinal stromal tumor cancer progression/metastasis chondroblastic osteosarcoma temporal lobe epilepsy

soft tissue sarcoma pediatric ependymoma corpus callosum visceral leishmaniasis

histiocytoma squamous cell carcinoma burkitt's lymphoma ependymoma

hemangioblastoma adenoid cystic carcinoma oral squamous cell carcinoma malignant glioma

3 diseases from the University of Copenhagen DISEASES database for EZR:

Neurofibromatosis Bacterial vaginosis Meningioma

10/62 Novoseek 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)

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)
About This Section

PubMed articles for EZR gene, integrated from 9 sources (see all 671):
(articles sorted by number of sources associating them with EZR)

Utopia: connect your pdf to the dynamic
world of online information

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. (2007)
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. (2008)
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. (2007)
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. (2005)
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. (2003)
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. (2003)
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. (1997)
Ca2+-dependent binding and activation of dormant ezrin by dimeric S100P. (PubMed id 12808036)^{1, 2, 9} Koltzscher M....Gerke V. (2003)
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. (1992)
Spatial recruitment and activation of the Fes kinase by ezrin promotes HGF-induced cell scattering. (PubMed id 18046454)^{1, 2} Naba A....Arpin M. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

Entrez Gene: 7430	HGNC: 12691	AceView: VIL2	Ensembl:ENSG00000092820	euGenes: HUgn7430
ECgene: EZR	Kegg: 7430	H-InvDB: EZR

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for EZR	Pharmacogenomics, SNPs, Pathways

Intellectual Property for EZR gene
(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

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