FOXP3 (forkhead box P3)

symbol:
FOXP3
locus group:
protein-coding gene
location:
Xp11.23
gene_family:
Forkhead boxes
alias symbol:
JM2|XPID|AIID|PIDX|DIETER|SCURFIN
alias name:
None
entrez id:
50943
ensembl gene id:
ENSG00000049768
ucsc gene id:
uc004dnf.4
refseq accession:
NM_014009
hgnc_id:
HGNC:6106
approved reserved:
2000-05-05
Xp11.23
基因染色体位置图

FOXP3(叉头框蛋白P3)是一种关键的转录调控因子,主要表达于调节性T细胞(Treg细胞)中,对维持免疫耐受和抑制过度免疫反应至关重要。FOXP3通过调控Treg细胞的发育、功能和稳定性,确保免疫系统不会错误攻击自身组织。FOXP3蛋白包含一个叉头框(Forkhead)结构域,使其能够结合DNA并调节下游基因的表达,如IL-2受体α链(CD25)和细胞毒性T淋巴细胞相关蛋白4(CTLA-4),这些基因共同参与免疫抑制功能。FOXP3突变会导致免疫调节功能丧失,引发严重的自身免疫性疾病,如IPEX综合征(免疫失调、多内分泌腺病、肠病、X连锁综合征),表现为糖尿病、湿疹和肠道炎症等。FOXP3属于FOX基因家族,该家族成员均含有保守的叉头框DNA结合域,参与多种生物学过程,包括细胞周期调控、代谢和免疫应答。FOXP3过表达可能增强Treg细胞的免疫抑制能力,有助于治疗自身免疫疾病或抑制移植排斥反应,但过度抑制也可能增加感染或肿瘤风险。相反,FOXP3表达降低或功能缺失会导致Treg细胞减少或功能缺陷,引发自身免疫反应或慢性炎症。此外,FOXP3在肿瘤微环境中可能被癌细胞利用来逃避免疫监视,某些肿瘤中FOXP3高表达与预后不良相关。FOXP3与其他免疫相关基因(如TGF-β、IL-10)协同作用,形成复杂的调控网络,维持免疫平衡。研究FOXP3有助于开发针对自身免疫病、癌症和移植排斥的新疗法。

The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质是叉头/翼螺旋家族转录调节中的一员。在这个基因的缺陷是免疫缺陷多内分泌腺病,肠病的原因,X连锁综合征(IPEX),也称为X-连锁自身免疫性免疫缺陷综合症。编码不同同种型的可变剪接转录物变体也已确定。 [由RefSeq的,2008年7月提供]

FOXP3基因的碱基序列:[NCBI]
Loading Gene Browser...
FOXP3基因的碱基突变:           仅显示部分snp
rs782820440       rs782815199       rs782819036       rs782819166       rs782814289       rs782813755       rs782810691       rs782813075       rs782804341       rs782808084       rs782799706       rs782796375       rs782791561       rs782790634       rs782789618       rs782790058       rs782789484      

FOXP3基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
AGGACTTCCTCAAGCACTG
59
CTGCTCCAGAGACTGTACC
59
AGGACTTCCTCAAGCACTG
59
CTGCTCCAGAGACTGTACC
59
AGGACTTCCTCAAGCACTG
59
CTGCTCCAGAGACTGTACC
59
AGGACTTCCTCAAGCACTG
59
CTGCTCCAGAGACTGTACC
59
AGGACTTCCTCAAGCACTG
59
CTGCTCCAGAGACTGTACC
59
AGGACTTCCTCAAGCACTG
59
CTGCTCCAGAGACTGTACC
59
AGAGGACTTCCTCAAGCAC
59
CTCCAGAGACTGTACCATCTC
59
AGAGGACTTCCTCAAGCAC
59
CTCCAGAGACTGTACCATCTC
59
AGAGGACTTCCTCAAGCAC
59
CTCCAGAGACTGTACCATCTC
59
AGAGGACTTCCTCAAGCAC
59
CTCCAGAGACTGTACCATCTC
59
转录因子
影响基因
影响类型
参考文献链接(PubMed)
FOXP3
BRCA1
Repression
FOXP3
CCR4
Activation
FOXP3
CDKN1A
Unknown
FOXP3
ERBB2
Unknown
FOXP3
IL10
Unknown
FOXP3
IL2
Repression
FOXP3
IL2RA
Activation
FOXP3
SATB1
Unknown
FOXP3
TLR10
Unknown
FOXP3
USP21
Activation

FOXP3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

FOXP3基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0003700
A0A0C4DFW6 (UniProtKB)
IEA
GO:0005634
A0A0C4DFW6 (UniProtKB)
IEA
GO:0006351
A0A0C4DFW6 (UniProtKB)
IEA
GO:0006355
A0A0C4DFW6 (UniProtKB)
IEA
GO:0043565
A0A0C4DFW6 (UniProtKB)
IEA
GO:0046872
A0A0C4DFW6 (UniProtKB)
IEA
GO:0002361
B7ZLG1 (UniProtKB)
IMP
GO:0003700
B7ZLG1 (UniProtKB)
IEA
GO:0005634
B7ZLG1 (UniProtKB)
IEA
GO:0006351
B7ZLG1 (UniProtKB)
IEA
GO:0006355
B7ZLG1 (UniProtKB)
IEA
GO:0043565
B7ZLG1 (UniProtKB)
IEA
GO:0046872
B7ZLG1 (UniProtKB)
IEA
GO:0000122
Q9BZS1 (UniProtKB)
IEA
GO:0000981
Q9BZS1 (UniProtKB)
IBA
GO:0001047
Q9BZS1 (UniProtKB)
ISS
GO:0001782
Q9BZS1 (UniProtKB)
IEA
GO:0001816
Q9BZS1 (UniProtKB)
IEA
GO:0002262
Q9BZS1 (UniProtKB)
IEA
GO:0002362
Q9BZS1 (UniProtKB)
TAS
GO:0002456
Q9BZS1 (UniProtKB)
IEA
GO:0002513
Q9BZS1 (UniProtKB)
IEA
GO:0002667
Q9BZS1 (UniProtKB)
ISS
GO:0002669
Q9BZS1 (UniProtKB)
IEA
GO:0002677
Q9BZS1 (UniProtKB)
IEA
GO:0002725
Q9BZS1 (UniProtKB)
IDA
GO:0002725
Q9BZS1 (UniProtKB)
IMP
GO:0002851
Q9BZS1 (UniProtKB)
IEA
GO:0003700
Q9BZS1 (UniProtKB)
NAS
GO:0003700
Q9BZS1 (UniProtKB)
IDA
GO:0003705
Q9BZS1 (UniProtKB)
IEA
GO:0003714
Q9BZS1 (UniProtKB)
IEA
GO:0005515
Q9BZS1 (UniProtKB)
IPI
GO:0005515
Q9BZS1 (UniProtKB)
IPI
GO:0005515
Q9BZS1 (UniProtKB)
IPI
GO:0005515
Q9BZS1 (UniProtKB)
IPI
GO:0005515
Q9BZS1 (UniProtKB)
IPI
GO:0005515
Q9BZS1 (UniProtKB)
IPI
GO:0005515
Q9BZS1 (UniProtKB)
IPI
GO:0005515
Q9BZS1 (UniProtKB)
IPI
GO:0005515
Q9BZS1 (UniProtKB)
IPI
GO:0005515
Q9BZS1 (UniProtKB)
IPI
GO:0005515
Q9BZS1 (UniProtKB)
IPI
GO:0005515
Q9BZS1 (UniProtKB)
IPI
GO:0005634
Q9BZS1 (UniProtKB)
IDA
GO:0005634
Q9BZS1 (UniProtKB)
IDA
GO:0005634
Q9BZS1 (UniProtKB)
NAS
GO:0005634
Q9BZS1 (UniProtKB)
NAS
GO:0005634
Q9BZS1 (UniProtKB)
IDA
GO:0005634
Q9BZS1 (UniProtKB)
IDA
GO:0005634
Q9BZS1 (UniProtKB)
IDA
GO:0005737
Q9BZS1 (UniProtKB)
NAS
GO:0005737
Q9BZS1 (UniProtKB)
IDA
GO:0006338
Q9BZS1 (UniProtKB)
NAS
GO:0006351
Q9BZS1 (UniProtKB)
IEA
GO:0006355
Q9BZS1 (UniProtKB)
NAS
GO:0008285
Q9BZS1 (UniProtKB)
IDA
GO:0009615
Q9BZS1 (UniProtKB)
IEP
GO:0031064
Q9BZS1 (UniProtKB)
IGI
GO:0032088
Q9BZS1 (UniProtKB)
IDA
GO:0032689
Q9BZS1 (UniProtKB)
IDA
GO:0032689
Q9BZS1 (UniProtKB)
IMP
GO:0032693
Q9BZS1 (UniProtKB)
IDA
GO:0032700
Q9BZS1 (UniProtKB)
IMP
GO:0032703
Q9BZS1 (UniProtKB)
IDA
GO:0032703
Q9BZS1 (UniProtKB)
IDA
GO:0032703
Q9BZS1 (UniProtKB)
IDA
GO:0032703
Q9BZS1 (UniProtKB)
IMP
GO:0032713
Q9BZS1 (UniProtKB)
IDA
GO:0032714
Q9BZS1 (UniProtKB)
IEA
GO:0032715
Q9BZS1 (UniProtKB)
IEA
GO:0032720
Q9BZS1 (UniProtKB)
IEA
GO:0032753
Q9BZS1 (UniProtKB)
IEA
GO:0032792
Q9BZS1 (UniProtKB)
IDA
GO:0032831
Q9BZS1 (UniProtKB)
TAS
GO:0032914
Q9BZS1 (UniProtKB)
IEA
GO:0033092
Q9BZS1 (UniProtKB)
IEA
GO:0035035
Q9BZS1 (UniProtKB)
IPI
GO:0035066
Q9BZS1 (UniProtKB)
IMP
GO:0035067
Q9BZS1 (UniProtKB)
IEA
GO:0042036
Q9BZS1 (UniProtKB)
IDA
GO:0042110
Q9BZS1 (UniProtKB)
IDA
GO:0042130
Q9BZS1 (UniProtKB)
IDA
GO:0042130
Q9BZS1 (UniProtKB)
IMP
GO:0042803
Q9BZS1 (UniProtKB)
IPI
GO:0042826
Q9BZS1 (UniProtKB)
IPI
GO:0042826
Q9BZS1 (UniProtKB)
IPI
GO:0043029
Q9BZS1 (UniProtKB)
NAS
GO:0043234
Q9BZS1 (UniProtKB)
NAS
GO:0043433
Q9BZS1 (UniProtKB)
IDA
GO:0043565
Q9BZS1 (UniProtKB)
IDA
GO:0043565
Q9BZS1 (UniProtKB)
IDA
GO:0043565
Q9BZS1 (UniProtKB)
IDA
GO:0045077
Q9BZS1 (UniProtKB)
IEA
GO:0045085
Q9BZS1 (UniProtKB)
IMP
GO:0045892
Q9BZS1 (UniProtKB)
IDA
GO:0045892
Q9BZS1 (UniProtKB)
IDA
GO:0045892
Q9BZS1 (UniProtKB)
IDA
GO:0045892
Q9BZS1 (UniProtKB)
IDA
GO:0045892
Q9BZS1 (UniProtKB)
IMP
GO:0045893
Q9BZS1 (UniProtKB)
ISS
GO:0045893
Q9BZS1 (UniProtKB)
IDA
GO:0045893
Q9BZS1 (UniProtKB)
IMP
GO:0045893
Q9BZS1 (UniProtKB)
IMP
GO:0045944
Q9BZS1 (UniProtKB)
IMP
GO:0046007
Q9BZS1 (UniProtKB)
NAS
GO:0046872
Q9BZS1 (UniProtKB)
IEA
GO:0048294
Q9BZS1 (UniProtKB)
IEA
GO:0048302
Q9BZS1 (UniProtKB)
IEA
GO:0050710
Q9BZS1 (UniProtKB)
IDA
GO:0050777
Q9BZS1 (UniProtKB)
IDA
GO:0050852
Q9BZS1 (UniProtKB)
IEA
GO:0051059
Q9BZS1 (UniProtKB)
NAS
GO:0051525
Q9BZS1 (UniProtKB)
IPI
GO:2000320
Q9BZS1 (UniProtKB)
IMP

可能调控 FOXP3基因的相关microRNA:     

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
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0.560542884 5 10 BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT
Diabetes Mellitus, Insulin-Dependent 0.137339942 30 0 BeFree_CTD_human_GAD
Mammary Neoplasms 0.128987376 6 0 BeFree_CTD_human_LHGDN
Adult T-Cell Lymphoma/Leukemia 0.125438769 11 0 BeFree_CTD_human_LHGDN
Rheumatoid Arthritis 0.12434307 16 0 BeFree_CTD_human
Polycystic Ovary Syndrome 0.12 1 0 CTD_human
Wiskott-Aldrich Syndrome 0.080542884 2 0 BeFree_MGD
Ichthyosis and male hypogonadism 0.08 0 0 MGD
Asthma 0.014797276 21 0 BeFree_GAD_LHGDN
Autoimmune Diseases 0.014657861 54 1 BeFree

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