FOXP3

FOXP3（Forkhead box protein P3）基因，即叉头框P3基因，也称为scurfin蛋白，位于X染色体，属于FOX蛋白家族，是一种与免疫系统响应有关的转录因子^[6]。

FOXP3
已知的结构 PDB 直系同源搜索: PDBe RCSB PDBID列表 3QRF、​4WK8
识别号
别名	FOXP3；, AIID, DIETER, IPEX, JM2, PIDX, XPID, forkhead box P3
外部ID	OMIM：300292 MGI：1891436 HomoloGene：8516 GeneCards：FOXP3
相关疾病
IPEX综合征[1]
基因位置（人类） 染色体 X染色体[2] 基因座 Xp11.23 起始 49,250,438 bp[2] 终止 49,270,477 bp[2]
基因位置（小鼠） 染色体 小鼠X染色体[3] 基因座 X A1.1|X 3.41 cM 起始 7,439,883 bp[3] 终止 7,461,484 bp[3]
RNA表达模式
查阅更多表达数据
基因本体 分子功能 • sequence-specific DNA binding • NF-kappaB binding • transcription corepressor activity • nucleic acid binding • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding • 血浆蛋白结合 • histone deacetylase binding • DNA结合转录因子活性 • NFAT protein binding • histone acetyltransferase binding • 金属离子结合 • DNA结合 • protein homodimerization activity • DNA-binding transcription factor activity, RNA polymerase II-specific • RNA polymerase II cis-regulatory region sequence-specific DNA binding 细胞组分 • 细胞核 • 胞内 • 细胞质 • 核质 • 大分子复合体 生物学过程 • negative regulation of cell population proliferation • negative regulation of NF-kappaB transcription factor activity • B cell homeostasis • regulation of isotype switching to IgG isotypes • myeloid cell homeostasis • negative regulation of inflammatory response • positive regulation of interleukin-4 production • regulation of immunoglobulin production • regulation of transcription by RNA polymerase II • regulation of T cell anergy • negative regulation of interleukin-6 production • tolerance induction to self antigen • regulation of transcription, DNA-templated • negative regulation of DNA-binding transcription factor activity • positive regulation of T cell tolerance induction • negative regulation of immune response • negative regulation of interferon-gamma production • tolerance induction • regulatory T cell differentiation • positive regulation of transcription, DNA-templated • negative regulation of interleukin-2 production • positive regulation of histone acetylation • negative regulation of interleukin-5 production • negative regulation of chronic inflammatory response • CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation • positive regulation of transcription by RNA polymerase II • negative regulation of activated T cell proliferation • positive regulation of gene expression • negative regulation of interleukin-4 production • negative regulation of interleukin-10 production • 肿瘤坏死因子产生的负调控 • T cell homeostasis • negative regulation of CREB transcription factor activity • negative regulation of T-helper 17 cell differentiation • T细胞激活 • positive regulation of immature T cell proliferation in thymus • positive regulation of regulatory T cell differentiation • negative regulation of transcription by RNA polymerase II • positive regulation of peripheral T cell tolerance induction • positive regulation of transforming growth factor beta1 production • negative regulation of transcription, DNA-templated • negative regulation of lymphocyte proliferation • negative regulation of histone acetylation • negative regulation of interleukin-17 production • response to virus • negative regulation of histone deacetylation • CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment • positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation • negative regulation of T cell proliferation • 染色体重建 • cytokine production • negative regulation of T cell cytokine production • negative regulation of isotype switching to IgE isotypes • T cell receptor signaling pathway • positive regulation of T cell anergy • transcription, DNA-templated • T cell mediated immunity • negative regulation of gene expression • anatomical structure morphogenesis • regulation of Wnt signaling pathway • regulation of regulatory T cell differentiation Sources:Amigo / QuickGO
直系同源
物种	人类	小鼠
Entrez	50943	20371
Ensembl	ENSG00000049768	ENSMUSG00000039521
UniProt	Q9BZS1	Q99JB6
mRNA​序列	NM_001114377 ​NM_014009	NM_001199347 ​NM_001199348 ​NM_054039
蛋白序列	NP_001107849 ​NP_054728	NP_001186276 ​NP_001186277 ​NP_473380
基因位置​（UCSC）	Chr X: 49.25 – 49.27 Mb	Chr X: 7.44 – 7.46 Mb
PubMed​查找	[4]	[5]
维基数据
查看/编辑人类 查看/编辑小鼠

参考文献

1. 與FOXP3相關的疾病；在維基數據上查看/編輯參考.
2. GRCh38: Ensembl release 89: ENSG00000049768 - Ensembl, May 2017
3. GRCm38: Ensembl release 89: ENSMUSG00000039521 - Ensembl, May 2017
4. Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
6. Brunkow ME, Jeffery EW, Hjerrild KA, Paeper B, Clark LB, Yasayko SA, Wilkinson JE, Galas D, Ziegler SF, Ramsdell F. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nature Genetics. January 2001, 27 (1): 68–73. PMID 11138001. S2CID 13389419. doi:10.1038/83784.

外部链接

• GeneReviews/NIH/NCBI/UW entry on IPEX Syndrome （页面存档备份，存于互联网档案馆）
• 医学主题词表（MeSH）：FOXP3+protein,+human