ITGAV (integrin subunit alpha V)

基因基本信息

基因基本信息

symbol:
ITGAV
locus group:
protein-coding gene
location:
2q32.1
gene_family:
CD molecules|Integrins
alias symbol:
CD51
alias name:
None
entrez id:
3685
ensembl gene id:
ENSG00000138448
ucsc gene id:
uc002upq.5
refseq accession:
NM_002210
hgnc_id:
HGNC:6150
approved reserved:
1988-07-19

基因染色体位置

基因染色体位置

2q32.1
基因染色体位置图

基因简述

基因简述

ITGAV基因编码整合素αV亚基，属于整合素超家族中的αV亚家族。整合素是由α和β亚基组成的异源二聚体跨膜受体，主要介导细胞与细胞外基质（ECM）的黏附以及细胞间信号传导。ITGAV可与多种β亚基（如β1、β3、β5、β6、β8）结合形成不同的整合素受体，其中αVβ3和αVβ5最为常见。这些整合素能识别含有RGD（精氨酸-甘氨酸-天冬氨酸）序列的ECM蛋白，如纤连蛋白、玻连蛋白、骨桥蛋白等，参与细胞迁移、增殖、存活和分化等过程。ITGAV在胚胎发育、血管生成、伤口愈合、骨重塑和免疫应答中发挥关键作用。该基因突变可能导致多种疾病，如ITGAV突变与Glanzmann血小板无力症相关，患者表现出出血倾向；αVβ3和αVβ5的异常表达与肿瘤转移、骨质疏松和纤维化疾病密切相关。ITGAV过表达常见于多种癌症（如乳腺癌、胶质母细胞瘤），促进肿瘤细胞侵袭转移和血管生成；而敲除ITGAV会导致小鼠胚胎致死，显示其在发育中的必要性。ITGAV还参与TGF-β的激活，其表达降低可能影响组织纤维化和免疫调节。ITGAV属于整合素α亚基家族，该家族成员均含有7个保守的N端重复序列，其中4个含有二价阳离子结合位点，对配体识别至关重要。目前针对ITGAV的靶向药物（如西仑吉肽）正在研发中，用于抑制肿瘤血管生成。

This gene encodes a protein that is a member of the integrin superfamily. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein undergoes post-translational cleavage to yield disulfide-linked heavy and light chains that combine with multiple integrin beta chains to form different integrins. This protein has been shown to heterodimerize with beta 1, beta 3, beta 5, beta 6, and beta 8; the heterodimer of alpha v and beta 3 is the Vitronectin receptor. This protein interacts with several extracellular matrix proteins to mediate cell adhesion and may play a role in cell migration. It is proposed that this protein may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants that encode different protein isoforms. Note that the integrin alpha 5 and integrin alpha V chains are produced by distinct genes. [provided by RefSeq, Jan 2015]

这个基因编码的蛋白质，它是整联超家族的成员。整合素是一个α链和一个β链组成的异二聚体整合膜蛋白。这种蛋白质经历翻译后切割产生二硫键连接的重链和轻链是具有多个整β链结合以形成不同的整联。这种蛋白质已被证实与β-1，β3，β5，β6和β8异源二聚体;阿尔法V和β3的异源二聚体是玻连蛋白受体。这种蛋白质与几个细胞外基质蛋白介导细胞粘附相互作用并可能在细胞的迁移的作用。有人建议，这种蛋白质可调节血管生成和癌症的发展。选择性剪接结果在多个抄本变形编码不同的蛋白质亚型。需要注意的是整合素5和整合素V链由不同的基因产生的。 [由RefSeq的，2015年1月提供]

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

基因序列

基因序列

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

基因突变

基因突变

ITGAV基因的碱基突变：           仅显示部分snp
rs13482       rs1031295       rs1054264       rs1448424       rs1448427       rs1839121       rs1839123       rs1839124       rs1992898       rs2084448       rs2165656       rs2197138       rs2197787       rs2230615       rs2230616       rs2230617       rs2290083      

基因表达

基因表达

ITGAV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
CATCTTAATGTTGTGCCGGA
59
GTCACATTTGAGGACCTGC
59
ATGGAGATCAACCCTTTGAG
57
TTAGTGATGAGATGGTCCCG
59
TCCGATTCCAAACTGGGAG
59
GTTTCTCAGCTCATAGATGTGC
60
GAGATAAGAGGAGTCTCGAGTC
59
TTCAGTCTCAGGGTTCTCC
58
TCACACTTTGGGTTGTGGA
59
GATTGCACTCTTTCCTCTGTC
59
TCACACTTTGGGTTGTGGA
59
GATTGCACTCTTTCCTCTGTC
59
AAAGAATGACACGGTTGCC
59
CAACTCCACAACCCAAAGTG
59
CTCCATGTAGATCACGTCAG
58
CTTGATGCTGTAAACATTGGG
58
ATGGAGATCAACCCTTTGAG
57
TTAGTGATGAGATGGTCCCG
59
TTTGTCAAGGAGGATTCAGC
58
AAATAAGCTGACCTTGCCA
57

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）
FOSL1
ITGAV
Repression
23319049
HOXD3
ITGAV
Unknown
14610084
JUND
ITGAV
Repression
23319049
SP1
ITGAV
Repression
23319049
SP1
ITGAV
Unknown
12136940
SP3
ITGAV
Unknown
12136940

基因本体信息

ITGAV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

ITGAV基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0001525
P06756 (UniProtKB)
IEP
GO:0001618
P06756 (UniProtKB)
IEA
GO:0001968
P06756 (UniProtKB)
IDA
GO:0002020
P06756 (UniProtKB)
IDA
GO:0002479
P06756 (UniProtKB)
TAS
GO:0005245
P06756 (UniProtKB)
IDA
GO:0005515
P06756 (UniProtKB)
IPI
GO:0005515
P06756 (UniProtKB)
IPI
GO:0005515
P06756 (UniProtKB)
IPI
GO:0005515
P06756 (UniProtKB)
IPI
GO:0005515
P06756 (UniProtKB)
IPI
GO:0005515
P06756 (UniProtKB)
IPI
GO:0005515
P06756 (UniProtKB)
IPI
GO:0005515
P06756 (UniProtKB)
IPI
GO:0005515
P06756 (UniProtKB)
IPI
GO:0005515
P06756 (UniProtKB)
IPI
GO:0005515
P06756 (UniProtKB)
IPI
GO:0005515
P06756 (UniProtKB)
IPI
GO:0005886
P06756 (UniProtKB)
IDA
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005886
P06756 (UniProtKB)
TAS
GO:0005887
P06756 (UniProtKB)
NAS
GO:0005925
P06756 (UniProtKB)
IDA
GO:0005925
P06756 (UniProtKB)
IDA
GO:0007155
P06756 (UniProtKB)
IDA
GO:0007160
P06756 (UniProtKB)
NAS
GO:0007160
P06756 (UniProtKB)
IDA
GO:0007160
P06756 (UniProtKB)
IMP
GO:0007160
P06756 (UniProtKB)
IMP
GO:0007229
P06756 (UniProtKB)
NAS
GO:0008284
P06756 (UniProtKB)
IDA
GO:0008305
P06756 (UniProtKB)
NAS
GO:0008305
P06756 (UniProtKB)
IDA
GO:0009897
P06756 (UniProtKB)
IEA
GO:0009986
P06756 (UniProtKB)
ISS
GO:0009986
P06756 (UniProtKB)
IDA
GO:0009986
P06756 (UniProtKB)
IDA
GO:0009986
P06756 (UniProtKB)
IDA
GO:0009986
P06756 (UniProtKB)
IDA
GO:0009986
P06756 (UniProtKB)
IDA
GO:0009986
P06756 (UniProtKB)
IDA
GO:0009986
P06756 (UniProtKB)
IDA
GO:0009986
P06756 (UniProtKB)
IDA
GO:0009986
P06756 (UniProtKB)
IDA
GO:0009986
P06756 (UniProtKB)
IDA
GO:0010745
P06756 (UniProtKB)
IMP
GO:0010888
P06756 (UniProtKB)
IMP
GO:0015026
P06756 (UniProtKB)
TAS
GO:0016020
P06756 (UniProtKB)
ISS
GO:0016049
P06756 (UniProtKB)
IMP
GO:0016477
P06756 (UniProtKB)
IMP
GO:0030198
P06756 (UniProtKB)
TAS
GO:0030335
P06756 (UniProtKB)
IEA
GO:0031258
P06756 (UniProtKB)
IDA
GO:0031527
P06756 (UniProtKB)
IDA
GO:0031528
P06756 (UniProtKB)
IDA
GO:0031589
P06756 (UniProtKB)
IMP
GO:0032369
P06756 (UniProtKB)
IMP
GO:0032587
P06756 (UniProtKB)
IDA
GO:0033690
P06756 (UniProtKB)
IEA
GO:0034113
P06756 (UniProtKB)
IMP
GO:0034446
P06756 (UniProtKB)
IDA
GO:0034683
P06756 (UniProtKB)
IDA
GO:0034683
P06756 (UniProtKB)
IDA
GO:0034683
P06756 (UniProtKB)
IDA
GO:0034683
P06756 (UniProtKB)
IDA
GO:0034684
P06756 (UniProtKB)
IDA
GO:0034686
P06756 (UniProtKB)
IDA
GO:0034686
P06756 (UniProtKB)
IDA
GO:0035867
P06756 (UniProtKB)
IDA
GO:0035987
P06756 (UniProtKB)
IMP
GO:0038027
P06756 (UniProtKB)
IMP
GO:0043277
P06756 (UniProtKB)
IEA
GO:0045335
P06756 (UniProtKB)
TAS
GO:0045715
P06756 (UniProtKB)
IMP
GO:0045785
P06756 (UniProtKB)
IDA
GO:0046718
P06756 (UniProtKB)
TAS
GO:0046718
P06756 (UniProtKB)
IMP
GO:0046872
P06756 (UniProtKB)
IEA
GO:0048010
P06756 (UniProtKB)
TAS
GO:0050431
P06756 (UniProtKB)
ISS
GO:0050748
P06756 (UniProtKB)
IMP
GO:0050764
P06756 (UniProtKB)
IDA
GO:0050840
P06756 (UniProtKB)
IDA
GO:0050900
P06756 (UniProtKB)
TAS
GO:0050919
P06756 (UniProtKB)
IMP
GO:0052066
P06756 (UniProtKB)
NAS
GO:0070062
P06756 (UniProtKB)
IDA
GO:0070062
P06756 (UniProtKB)
IDA
GO:0070062
P06756 (UniProtKB)
IDA
GO:0070062
P06756 (UniProtKB)
IDA
GO:0070062
P06756 (UniProtKB)
IDA
GO:0070371
P06756 (UniProtKB)
ISS
GO:0070588
P06756 (UniProtKB)
IDA
GO:0097192
P06756 (UniProtKB)
ISS
GO:1990430
P06756 (UniProtKB)
IDA
GO:2000425
P06756 (UniProtKB)
ISS
GO:2000536
P06756 (UniProtKB)
IDA
GO:2001237
P06756 (UniProtKB)
IMP
GO:0001846
P06756 (UniProtKB)
ISS
GO:0005080
P06756 (UniProtKB)
ISS
GO:0017134
P06756 (UniProtKB)
IDA
GO:0019960
P06756 (UniProtKB)
IDA
GO:0031994
P06756 (UniProtKB)
IDA
GO:0038132
P06756 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 ITGAV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
Cerebrovascular accident 0.12 1 0 CTD_human
Cerebral Hemorrhage 0.12 1 0 CTD_human
Corneal Neovascularization 0.08 1 0 RGD
Ischemia 0.08 1 0 RGD
Coronary Stenosis 0.08 1 0 RGD
Choroidal Neovascularization 0.08 1 0 RGD
Hypertensive disease 0.08 1 0 RGD
melanoma 0.023413522 21 0 BeFree_LHGDN
Mammary Neoplasms 0.016346101 6 0 LHGDN
Prostatic Neoplasms 0.010897401 4 0 LHGDN

基因相关服务

基因相关服务

联系方式

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