ITGB2 (integrin subunit beta 2)

基因基本信息

基因基本信息

symbol:
ITGB2
locus group:
protein-coding gene
location:
21q22.3
gene_family:
CD molecules|Complement system|Integrins
alias symbol:
LFA-1|MAC-1
alias name:
complement component 3 receptor 3 …
entrez id:
3689
ensembl gene id:
ENSG00000160255
ucsc gene id:
uc002zgf.5
refseq accession:
NM_000211
hgnc_id:
HGNC:6155
approved reserved:
1986-01-01

基因染色体位置

基因染色体位置

21q22.3
基因染色体位置图

基因简述

基因简述

ITGB2（整合素β2）基因编码的蛋白质是整合素家族的重要成员，属于β2亚家族。整合素是一类跨膜受体，介导细胞与细胞外基质（ECM）或细胞间的黏附，参与免疫反应、炎症、伤口愈合等生理过程。ITGB2与α亚基（如CD11a、CD11b、CD11c、CD11d）结合形成异源二聚体，主要在白细胞表面表达，如中性粒细胞、单核细胞和淋巴细胞。这些整合素在白细胞迁移、吞噬作用和免疫突触形成中起关键作用。ITGB2的功能依赖于其与配体（如ICAM-1、纤维蛋白原）的结合，这一过程需要细胞内信号激活（“由内向外”信号）或外部配体触发（“由外向内”信号）。ITGB2突变可导致白细胞黏附缺陷症（LAD），这是一种罕见的免疫缺陷病，表现为反复感染、伤口愈合延迟和白细胞计数升高但无法迁移至感染部位。LAD分为三型，其中LAD-I由ITGB2突变引起，导致白细胞无法黏附于血管内皮并迁移至炎症部位。ITGB2过表达可能与慢性炎症性疾病（如类风湿性关节炎、动脉粥样硬化）相关，因为过度活跃的白细胞迁移会加剧组织损伤。相反，ITGB2表达降低会损害免疫防御，增加感染风险。ITGB2还参与肿瘤微环境的调控，其表达变化可能影响肿瘤免疫逃逸。整合素β2家族（包括ITGB2）的共性在于它们均与特定的α亚基配对，主要在免疫细胞中表达，并参与免疫和炎症反应。这些整合素通过调节细胞黏附和信号传导，在宿主防御和组织稳态中发挥核心作用。ITGB2的功能受多种因素调控，包括细胞因子（如TNF-α、IFN-γ）和化学趋化因子，其活性变化对免疫系统的平衡至关重要。

This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

该基因编码的整合β链，与多个不同的α链结合，形成不同的整合异。整是参与细胞粘附以及细胞表面介导的信号积分的细胞表面蛋白。所编码的蛋白在该基因导致白细胞粘附缺陷的免疫应答和缺陷的一个重要的角色。选择性剪接结果在多个抄本变形。 [由RefSeq的，2014年12月提供]

OMIM数据库中对ITGB2基因的介绍     Wikipedia数据库中对ITGB2基因的介绍

基因序列

基因序列

ITGB2基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

ITGB2基因的碱基突变：           仅显示部分snp
rs1721       rs714946       rs714947       rs741961       rs760452       rs760453       rs760454       rs873555       rs873556       rs990594       rs2006271       rs2006272       rs2017725       rs2070946       rs2070947       rs2329941       rs2838738      

基因表达

基因表达

ITGB2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
GCTTACAATAAACTCTCCTCCAG
59
AGAAGGAGTCGTAGGTGAC
58
CGAAGTTCAAGGTCAGCAG
59
TCAAGAAGCCCAAGGAGAC
59
ACGAAGTTCAAGGTCAGCA
60
CTGTGAAGTTCAGCTTCTGG
59
GCAACGAATTCGACTACCC
59
TCACCATCCTACTGGTCAC
58
AAGTTCAAGGTCAGCAGCT
60
CAAGGTAGTTTCCACCTGG
58
CTGAGGGATGGAGTGATGG
59
CACCTGGAAGGTGATCCAG
60
TTTCTAGACGTGACCCAGG
59
CGTGGAACACAGAACTCAC
59
GTTTCTAGACGTGACCCAG
58
AGATAGTACAGGTCGATGGG
58
ACGAAGTTCAAGGTCAGCA
60
CTGTGAAGTTCAGCTTCTGG
59
GCTTACAATAAACTCTCCTCCAG
59
AGAAGGAGTCGTAGGTGAC
58

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）
HIF1A
ITGB2
Activation
15235127
KLF5
ITGB2
Activation
22632819
RUNX1
ITGB2
Unknown
12855590
SP1
ITGB2
Unknown
8670251
SPI1
ITGB2
Activation
9295016
SPI1
ITGB2
Unknown
8670251

基因本体信息

ITGB2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

ITGB2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004872
A0A087WX36 (UniProtKB)
IEA
GO:0007160
A0A087WX36 (UniProtKB)
IEA
GO:0007229
A0A087WX36 (UniProtKB)
IEA
GO:0008305
A0A087WX36 (UniProtKB)
IEA
GO:0004872
A8MVG7 (UniProtKB)
IEA
GO:0007160
A8MVG7 (UniProtKB)
IEA
GO:0007229
A8MVG7 (UniProtKB)
IEA
GO:0008305
A8MVG7 (UniProtKB)
IEA
GO:0004872
D3DSM0 (UniProtKB)
IEA
GO:0007160
D3DSM0 (UniProtKB)
IEA
GO:0007229
D3DSM0 (UniProtKB)
IEA
GO:0008305
D3DSM0 (UniProtKB)
IEA
GO:0004872
E5RFI0 (UniProtKB)
IEA
GO:0007160
E5RFI0 (UniProtKB)
IEA
GO:0007229
E5RFI0 (UniProtKB)
IEA
GO:0008305
E5RFI0 (UniProtKB)
IEA
GO:0004872
E5RHT0 (UniProtKB)
IEA
GO:0007160
E5RHT0 (UniProtKB)
IEA
GO:0007229
E5RHT0 (UniProtKB)
IEA
GO:0008305
E5RHT0 (UniProtKB)
IEA
GO:0004872
E5RIE4 (UniProtKB)
IEA
GO:0007160
E5RIE4 (UniProtKB)
IEA
GO:0007229
E5RIE4 (UniProtKB)
IEA
GO:0008305
E5RIE4 (UniProtKB)
IEA
GO:0004872
E5RIG7 (UniProtKB)
IEA
GO:0007160
E5RIG7 (UniProtKB)
IEA
GO:0007229
E5RIG7 (UniProtKB)
IEA
GO:0008305
E5RIG7 (UniProtKB)
IEA
GO:0004872
E5RK25 (UniProtKB)
IEA
GO:0007160
E5RK25 (UniProtKB)
IEA
GO:0007229
E5RK25 (UniProtKB)
IEA
GO:0008305
E5RK25 (UniProtKB)
IEA
GO:0004872
E5RK54 (UniProtKB)
IEA
GO:0007160
E5RK54 (UniProtKB)
IEA
GO:0007229
E5RK54 (UniProtKB)
IEA
GO:0008305
E5RK54 (UniProtKB)
IEA
GO:0004872
E7EVZ9 (UniProtKB)
IEA
GO:0007160
E7EVZ9 (UniProtKB)
IEA
GO:0007229
E7EVZ9 (UniProtKB)
IEA
GO:0008305
E7EVZ9 (UniProtKB)
IEA
GO:0004872
J3KNI6 (UniProtKB)
IEA
GO:0007160
J3KNI6 (UniProtKB)
IEA
GO:0007229
J3KNI6 (UniProtKB)
IEA
GO:0008305
J3KNI6 (UniProtKB)
IEA
GO:0001948
P05107 (UniProtKB)
IPI
GO:0002523
P05107 (UniProtKB)
IEA
GO:0005515
P05107 (UniProtKB)
IPI
GO:0005515
P05107 (UniProtKB)
IPI
GO:0005515
P05107 (UniProtKB)
IPI
GO:0005515
P05107 (UniProtKB)
IPI
GO:0005515
P05107 (UniProtKB)
IPI
GO:0005886
P05107 (UniProtKB)
TAS
GO:0005886
P05107 (UniProtKB)
TAS
GO:0005886
P05107 (UniProtKB)
TAS
GO:0005886
P05107 (UniProtKB)
TAS
GO:0005886
P05107 (UniProtKB)
TAS
GO:0005886
P05107 (UniProtKB)
TAS
GO:0005886
P05107 (UniProtKB)
TAS
GO:0006915
P05107 (UniProtKB)
NAS
GO:0006954
P05107 (UniProtKB)
NAS
GO:0007155
P05107 (UniProtKB)
TAS
GO:0007159
P05107 (UniProtKB)
IDA
GO:0007160
P05107 (UniProtKB)
IMP
GO:0007229
P05107 (UniProtKB)
NAS
GO:0007267
P05107 (UniProtKB)
NAS
GO:0007568
P05107 (UniProtKB)
IEA
GO:0008305
P05107 (UniProtKB)
NAS
GO:0008360
P05107 (UniProtKB)
NAS
GO:0009986
P05107 (UniProtKB)
IDA
GO:0009986
P05107 (UniProtKB)
IDA
GO:0009986
P05107 (UniProtKB)
IDA
GO:0009986
P05107 (UniProtKB)
IDA
GO:0009986
P05107 (UniProtKB)
IDA
GO:0016020
P05107 (UniProtKB)
IDA
GO:0019901
P05107 (UniProtKB)
IPI
GO:0030101
P05107 (UniProtKB)
IEA
GO:0030141
P05107 (UniProtKB)
IEA
GO:0030198
P05107 (UniProtKB)
TAS
GO:0030369
P05107 (UniProtKB)
IMP
GO:0030593
P05107 (UniProtKB)
IDA
GO:0031623
P05107 (UniProtKB)
ISS
GO:0032403
P05107 (UniProtKB)
IEA
GO:0034113
P05107 (UniProtKB)
IMP
GO:0034142
P05107 (UniProtKB)
TAS
GO:0034687
P05107 (UniProtKB)
IDA
GO:0035987
P05107 (UniProtKB)
IEP
GO:0043113
P05107 (UniProtKB)
IMP
GO:0043235
P05107 (UniProtKB)
IDA
GO:0043542
P05107 (UniProtKB)
IEA
GO:0045123
P05107 (UniProtKB)
IEA
GO:0045429
P05107 (UniProtKB)
IEA
GO:0045766
P05107 (UniProtKB)
IEA
GO:0046872
P05107 (UniProtKB)
IEA
GO:0046982
P05107 (UniProtKB)
IEA
GO:0050730
P05107 (UniProtKB)
IDA
GO:0050776
P05107 (UniProtKB)
TAS
GO:0050839
P05107 (UniProtKB)
IMP
GO:0050900
P05107 (UniProtKB)
TAS
GO:0051092
P05107 (UniProtKB)
IEA
GO:0070062
P05107 (UniProtKB)
IDA
GO:0070062
P05107 (UniProtKB)
IDA
GO:0071404
P05107 (UniProtKB)
ISS
GO:1903561
P05107 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 ITGB2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
Leukocyte adhesion deficiency type 1 0.445157396 26 15 BeFree_CTD_human_MGD_ORPHANET_UNIPROT
Pneumonia 0.2 2 0 CTD_human_RGD
Congenital leukocyte adherence deficiency 0.134310474 45 12 BeFree_CLINVAR_GAD
Acute Promyelocytic Leukemia 0.123267234 3 0 BeFree_CTD_human_LHGDN
Dermatitis 0.120814326 4 0 BeFree_CTD_human
Behcet Syndrome 0.120271442 2 0 BeFree_CTD_human
Skin Ulcer 0.12 1 0 CTD_human
Leukocyte Disorders 0.12 2 0 CTD_human
Nephrosis 0.12 1 0 CTD_human
Calcinosis 0.12 1 0 CTD_human

基因相关服务

基因相关服务

联系方式

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