| Gene Symbol |
FOXP3
|
| Entrez Gene |
50943
|
| Alt Symbol |
AIID, DIETER, IPEX, JM2, PIDX, XPID
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
forkhead box P3
|
| Other Description |
FOXP3delta7|forkhead box protein P3|immune dysregulation, polyendocrinopathy, enteropathy, X-linked|immunodeficiency, polyendocrinopathy, enteropathy, X-linked|scurfin
|
| Swissprots |
Q14DD8 O60827 Q9BZS1 Q4ZH51 B9UN80 B7ZLG0 A5HJT1
|
| Accessions |
CAY55968 CCF77062 CDH61704 EAW50671 EAW50672 EAW50673 Q9BZS1 AF277993 AAG53607 AJ005891 CAA06748 AK292052 BAF84741 AK299988 BAG61809 BC111853 AAI11854 BC113401 AAI13402 BC113403 AAI13404 BC143785 AAI43786 BC143786 AAI43787 BQ184335 DB342786 DQ010327 AAY27088 EF534714 ABQ15210 EU855812 ACJ46653 HQ258232 ADR82986 XM_006724533 XP_006724596 XM_011543915 XP_011542217 XM_011543916 XP_011542218 XM_011543917 XP_011542219 XM_011543918 XP_011542220 XM_011543919 XP_011542221 NM_001114377 NP_001107849 NM_014009 NP_054728
|
| Function |
Transcriptional regulator which is crucial for the development and inhibitory function of regulatory T-cells (Treg). Plays an essential role in maintaining homeostasis of the immune system by allowing the acquisition of full suppressive function and stability of the Treg lineage, and by directly modulating the expansion and function of conventional T-cells. Can act either as a transcriptional repressor or a transcriptional activator depending on its interactions with other transcription factors, histone acetylases and deacetylases. The suppressive activity of Treg involves the coordinate activation of many genes, including CTLA4 and TNFRSF18 by FOXP3 along with repression of genes encoding cytokines such as interleukin-2 (IL2) and interferon- gamma (IFNG). Inhibits cytokine production and T-cell effector function by repressing the activity of two key transcription factors, RELA and NFATC2 (PubMed:15790681). Mediates transcriptional repression of IL2 via its association with histone ace
|
| Subcellular Location |
Nucleus {ECO:0000255|PROSITE- ProRule:PRU00089, ECO:0000269|PubMed:17360565, ECO:0000269|PubMed:18354202, ECO:0000269|PubMed:22678915, ECO:0000269|PubMed:23396208, ECO:0000269|PubMed:23973222, ECO:0000269|PubMed:23973223}. Cytoplasm {ECO:0000269|PubMed:22678915}. Note=Predominantly expressed in the cytoplasm in activated conventional T-cells whereas predominantly expressed in the nucleus in regulatory T-cells (Treg). The 41 kDa form derived by proteolytic processing is found exclusively in the chromatin fraction of activated Treg cells (By similarity). {ECO:0000250|UniProtKB:Q99JB6, ECO:0000269|PubMed:22678915}.
|
| Top Pathways |
Inflammatory bowel disease (IBD)
|
![Western Blot: FOXP3 Cell Lysate [NBP2-25061] - 15 ul of human FOXP3 A) transfected cell lysate and B) mock transfected cell lysate probed with 5 ug/ml of Human FOXP3](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_1/26124_FOXP3-Cell-Lysate-Western-Blot-NBP2-25061-img0001.jpg)
![Western Blot: FOXP3 Overexpression Lysate (Adult Normal) [NBL1-10817] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for FOXP3.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/780_FOXP3%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-10817-img0002.jpg)