EZR (ezrin)

基因基本信息

基因基本信息

symbol:
EZR
locus group:
protein-coding gene
location:
6q25.3
gene_family:
A-kinase anchor proteins
alias symbol:
None
alias name:
cytovillin 2
entrez id:
7430
ensembl gene id:
ENSG00000092820
ucsc gene id:
uc003qru.5
refseq accession:
NM_003379
hgnc_id:
HGNC:12691
approved reserved:
1989-06-30

基因染色体位置

基因染色体位置

6q25.3
基因染色体位置图

基因简述

基因简述

EZR（ezrin）是一种细胞骨架连接蛋白，属于ERM（ezrin-radixin-moesin）基因家族成员，该家族还包括radixin和moesin。ERM家族的共性在于它们通过连接细胞膜与细胞骨架（如肌动蛋白）来维持细胞形态、运动性和信号传导。EZR的生物学功能包括参与细胞黏附、迁移、膜突起（如微绒毛）形成以及细胞信号转导（如调控Rho GTPase通路）。其主要作用位点是细胞膜与细胞骨架的界面，尤其在表皮细胞、免疫细胞和肿瘤细胞中高表达。突变或异常表达可能破坏细胞极性（细胞结构的方向性）和迁移能力，与多种疾病相关，例如EZR过表达常见于乳腺癌、胃癌等恶性肿瘤，促进肿瘤侵袭和转移；而表达降低可能导致微绒毛发育缺陷（如微绒毛包涵体病，一种罕见的肠道吸收障碍疾病）。EZR过表达会激活PI3K/AKT等促生存通路，增强细胞运动性，同时可能抑制其他ERM家族成员的功能；而敲低EZR会导致细胞膜稳定性下降、迁移能力受损。在基因家族中，ERM成员功能部分冗余（基因间可互相替代），但组织分布不同，例如radixin在肝脏富集，而moesin多见于淋巴细胞。专业术语解释：细胞骨架（维持细胞形状的蛋白质网络）、微绒毛（细胞表面指状突起，增加吸收面积）、Rho GTPase（调控细胞运动的分子开关）。英文注释：ERM（ezrin-radixin-moesin）、PI3K/AKT（phosphoinositide 3-kinase/protein kinase B）。

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]

细胞质外设进行由该基因的功能作为在微绒毛蛋白 - 酪氨酸激酶底物的编码人膜蛋白。作为ERM蛋白家族的一个成员，该蛋白质作为质膜和肌动蛋白细胞骨架之间的中间。该蛋白质在细胞表面结构的粘附，迁移和组织关键的作用，并已在各种人类癌症中有牵连。位于3号染色体假基因已经确定了这个基因。可变剪接变体也已为这个基因说明。 [由RefSeq的，2008年7月提供]

OMIM数据库中对EZR基因的介绍     Wikipedia数据库中对EZR基因的介绍

基因序列

基因序列

EZR基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

EZR基因的碱基突变：           仅显示部分snp
rs1486321       rs1486322       rs1872611       rs1948062       rs1994350       rs2171208       rs3063653       rs3102968       rs3127168       rs6901094       rs6907017       rs7745954       rs9457474       rs9457475       rs9457476       rs34409089       rs55741713      

基因表达

基因表达

EZR基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
GAAGGCACCTGACTTTGTG
59
TACAACTCATGGTTGCCCA
59
GAAGGCACCTGACTTTGTG
59
TACAACTCATGGTTGCCCA
59
CAATCAATGTCCGAGTTACCA
59
CCGATAGTCTTTACCACCTG
58
GATAAGAAGGTGTCTGCCCA
60
ATCTTCAGGGTAGAACTTGGC
60
TTACAAGTGTGAGCCACCA
59
TCTTTACCACCTGTTCTTCCC
60
ACAAACTTACCAGGGACCA
59
TAGCATTATCTTTGAGCATCCC
58
GGAAGAACAGGTGGTAAAGAC
59
CCAGGTAGGAAATCCTTTATTATCC
59
AATCAATGTCCGAGTTACCAC
59
CCGATAGTCTTTACCACCTG
58
GGAGTGAAATCAGGAACATCTC
59
AAACACAAAGTCAGGTGCC
59
GGAGTGAAATCAGGAACATCTC
59
AAACACAAAGTCAGGTGCC
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
FOS
EZR
Activation
19164283
JUN
EZR
Activation
19164283
SP1
EZR
Activation
19164283

基因本体信息

EZR基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

EZR基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003779
E7EQR4 (UniProtKB)
IEA
GO:0005737
E7EQR4 (UniProtKB)
IEA
GO:0005856
E7EQR4 (UniProtKB)
IEA
GO:0019898
E7EQR4 (UniProtKB)
IEA
GO:0000122
P15311 (UniProtKB)
IMP
GO:0001726
P15311 (UniProtKB)
IDA
GO:0001726
P15311 (UniProtKB)
IDA
GO:0001772
P15311 (UniProtKB)
IDA
GO:0001931
P15311 (UniProtKB)
IEA
GO:0001951
P15311 (UniProtKB)
IEA
GO:0003376
P15311 (UniProtKB)
IMP
GO:0003779
P15311 (UniProtKB)
IDA
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005515
P15311 (UniProtKB)
IPI
GO:0005615
P15311 (UniProtKB)
IDA
GO:0005730
P15311 (UniProtKB)
IDA
GO:0005737
P15311 (UniProtKB)
IDA
GO:0005737
P15311 (UniProtKB)
IDA
GO:0005737
P15311 (UniProtKB)
IDA
GO:0005768
P15311 (UniProtKB)
IDA
GO:0005829
P15311 (UniProtKB)
IDA
GO:0005829
P15311 (UniProtKB)
TAS
GO:0005829
P15311 (UniProtKB)
TAS
GO:0005829
P15311 (UniProtKB)
TAS
GO:0005829
P15311 (UniProtKB)
TAS
GO:0005829
P15311 (UniProtKB)
TAS
GO:0005829
P15311 (UniProtKB)
TAS
GO:0005829
P15311 (UniProtKB)
TAS
GO:0005884
P15311 (UniProtKB)
IDA
GO:0005886
P15311 (UniProtKB)
IDA
GO:0005886
P15311 (UniProtKB)
IDA
GO:0005902
P15311 (UniProtKB)
IDA
GO:0005903
P15311 (UniProtKB)
ISS
GO:0005925
P15311 (UniProtKB)
IDA
GO:0007016
P15311 (UniProtKB)
NAS
GO:0007159
P15311 (UniProtKB)
IEP
GO:0007411
P15311 (UniProtKB)
TAS
GO:0008017
P15311 (UniProtKB)
IMP
GO:0008360
P15311 (UniProtKB)
IMP
GO:0010628
P15311 (UniProtKB)
IGI
GO:0010737
P15311 (UniProtKB)
IMP
GO:0015629
P15311 (UniProtKB)
IDA
GO:0016020
P15311 (UniProtKB)
IDA
GO:0016323
P15311 (UniProtKB)
ISS
GO:0016324
P15311 (UniProtKB)
IDA
GO:0016324
P15311 (UniProtKB)
IDA
GO:0016324
P15311 (UniProtKB)
IDA
GO:0019898
P15311 (UniProtKB)
IDA
GO:0019904
P15311 (UniProtKB)
IPI
GO:0022614
P15311 (UniProtKB)
IEP
GO:0030033
P15311 (UniProtKB)
IMP
GO:0030175
P15311 (UniProtKB)
IDA
GO:0030175
P15311 (UniProtKB)
IDA
GO:0030315
P15311 (UniProtKB)
IEA
GO:0030863
P15311 (UniProtKB)
TAS
GO:0030953
P15311 (UniProtKB)
IMP
GO:0031528
P15311 (UniProtKB)
IEA
GO:0031532
P15311 (UniProtKB)
IMP
GO:0031623
P15311 (UniProtKB)
IEA
GO:0031982
P15311 (UniProtKB)
IDA
GO:0032532
P15311 (UniProtKB)
IEA
GO:0032587
P15311 (UniProtKB)
IEA
GO:0034236
P15311 (UniProtKB)
IPI
GO:0034237
P15311 (UniProtKB)
IPI
GO:0034237
P15311 (UniProtKB)
IPI
GO:0034629
P15311 (UniProtKB)
IMP
GO:0036064
P15311 (UniProtKB)
IEA
GO:0040018
P15311 (UniProtKB)
IEA
GO:0042995
P15311 (UniProtKB)
IDA
GO:0043209
P15311 (UniProtKB)
IEA
GO:0043622
P15311 (UniProtKB)
IMP
GO:0044297
P15311 (UniProtKB)
IEA
GO:0044393
P15311 (UniProtKB)
IEA
GO:0044548
P15311 (UniProtKB)
IPI
GO:0044822
P15311 (UniProtKB)
IDA
GO:0044822
P15311 (UniProtKB)
IDA
GO:0044853
P15311 (UniProtKB)
IDA
GO:0045177
P15311 (UniProtKB)
IDA
GO:0046847
P15311 (UniProtKB)
IMP
GO:0048015
P15311 (UniProtKB)
IDA
GO:0048471
P15311 (UniProtKB)
IDA
GO:0050714
P15311 (UniProtKB)
IMP
GO:0050839
P15311 (UniProtKB)
IPI
GO:0050839
P15311 (UniProtKB)
IPI
GO:0050839
P15311 (UniProtKB)
IPI
GO:0050860
P15311 (UniProtKB)
IMP
GO:0051015
P15311 (UniProtKB)
IDA
GO:0051017
P15311 (UniProtKB)
IDA
GO:0051117
P15311 (UniProtKB)
IPI
GO:0051286
P15311 (UniProtKB)
IEA
GO:0051660
P15311 (UniProtKB)
IMP
GO:0061028
P15311 (UniProtKB)
IGI
GO:0070062
P15311 (UniProtKB)
IDA
GO:0070062
P15311 (UniProtKB)
IDA
GO:0070062
P15311 (UniProtKB)
IDA
GO:0070062
P15311 (UniProtKB)
IDA
GO:0070373
P15311 (UniProtKB)
IMP
GO:0071320
P15311 (UniProtKB)
IMP
GO:0071944
P15311 (UniProtKB)
IDA
GO:0072697
P15311 (UniProtKB)
IMP
GO:0090002
P15311 (UniProtKB)
IMP
GO:0090002
P15311 (UniProtKB)
IMP
GO:0090004
P15311 (UniProtKB)
IEA
GO:0097449
P15311 (UniProtKB)
IEA
GO:0097454
P15311 (UniProtKB)
IEA
GO:0098592
P15311 (UniProtKB)
IDA
GO:1900041
P15311 (UniProtKB)
IMP
GO:1902115
P15311 (UniProtKB)
IGI
GO:1902115
P15311 (UniProtKB)
IMP
GO:1902896
P15311 (UniProtKB)
IEA
GO:1902966
P15311 (UniProtKB)
IGI
GO:1903364
P15311 (UniProtKB)
IGI
GO:1903753
P15311 (UniProtKB)
IMP
GO:2000643
P15311 (UniProtKB)
IGI
GO:2000643
P15311 (UniProtKB)
IMP
GO:0008361
P15311 (UniProtKB)
IMP
GO:0022612
P15311 (UniProtKB)
IMP
GO:0032956
P15311 (UniProtKB)
IMP
GO:0045198
P15311 (UniProtKB)
IMP
GO:0045198
P15311 (UniProtKB)
IMP
GO:1901222
P15311 (UniProtKB)
IMP
GO:0036398
P15311 (UniProtKB)
IDA
GO:0001772
P15311 (UniProtKB)
IDA
GO:0005925
P15311 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 EZR基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Prostatic Neoplasms 0.1254487 5 0 CTD_human_LHGDN
Animal Mammary Neoplasms 0.12 1 0 CTD_human
Degenerative polyarthritis 0.12 1 0 CTD_human
Mammary Neoplasms, Experimental 0.12 1 0 CTD_human
Neoplasm Metastasis 0.028832428 49 0 BeFree_LHGDN
Osteosarcoma 0.01795489 28 0 BeFree_LHGDN
Sarcoma 0.008987376 4 0 BeFree_LHGDN
Mammary Neoplasms 0.008444493 4 0 BeFree_LHGDN
Osteosarcoma of bone 0.007057489 26 0 BeFree
Endometriosis 0.005720142 3 0 BeFree_LHGDN

基因相关服务

基因相关服务

联系方式

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