FOXP3
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| forkhead box P3 | MIM:300292 | Ensembl:ENSG00000049768 | HGNC:HGNC:6106 | PA201094 | Xp11.23 |
GO terms in FOXP3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISS | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IMP | GO:0003677 | DNA binding |
| MF | IDA | GO:0003700 | DNA-binding transcription factor activity |
| MF | NAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | IEA | GO:0003705 | transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding |
| MF | IEA | GO:0003714 | transcription corepressor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0035035 | histone acetyltransferase binding |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | IPI | GO:0042826 | histone deacetylase binding |
| MF | IDA | GO:0043565 | sequence-specific DNA binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | NAS | GO:0051059 | NF-kappaB binding |
| MF | IPI | GO:0051525 | NFAT protein binding |
| BP | IEA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001782 | B cell homeostasis |
| BP | IEA | GO:0001816 | cytokine production |
| BP | IEA | GO:0002262 | myeloid cell homeostasis |
| BP | TAS | GO:0002362 | CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment |
| BP | IEA | GO:0002456 | T cell mediated immunity |
| BP | IEA | GO:0002513 | tolerance induction to self antigen |
| BP | ISS | GO:0002667 | regulation of T cell anergy |
| BP | IEA | GO:0002669 | positive regulation of T cell anergy |
| BP | IEA | GO:0002677 | negative regulation of chronic inflammatory response |
| BP | IDA | GO:0002725 | negative regulation of T cell cytokine production |
| BP | IMP | GO:0002725 | negative regulation of T cell cytokine production |
| BP | IEA | GO:0002851 | positive regulation of peripheral T cell tolerance induction |
| BP | NAS | GO:0006338 | chromatin remodeling |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | NAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IDA | GO:0008285 | negative regulation of cell proliferation |
| BP | IEP | GO:0009615 | response to virus |
| BP | TAS | GO:0030111 | regulation of Wnt signaling pathway |
| BP | IGI | GO:0031064 | negative regulation of histone deacetylation |
| BP | IDA | GO:0032088 | negative regulation of NF-kappaB transcription factor activity |
| BP | IDA | GO:0032689 | negative regulation of interferon-gamma production |
| BP | IMP | GO:0032689 | negative regulation of interferon-gamma production |
| BP | IDA | GO:0032693 | negative regulation of interleukin-10 production |
| BP | IMP | GO:0032700 | negative regulation of interleukin-17 production |
| BP | IDA | GO:0032703 | negative regulation of interleukin-2 production |
| BP | IMP | GO:0032703 | negative regulation of interleukin-2 production |
| BP | IDA | GO:0032713 | negative regulation of interleukin-4 production |
| BP | IEA | GO:0032714 | negative regulation of interleukin-5 production |
| BP | IEA | GO:0032715 | negative regulation of interleukin-6 production |
| BP | IEA | GO:0032720 | negative regulation of tumor necrosis factor production |
| BP | IEA | GO:0032753 | positive regulation of interleukin-4 production |
| BP | IDA | GO:0032792 | negative regulation of CREB transcription factor activity |
| BP | TAS | GO:0032831 | positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation |
| BP | IEA | GO:0032914 | positive regulation of transforming growth factor beta1 production |
| BP | IEA | GO:0033092 | positive regulation of immature T cell proliferation in thymus |
| BP | IMP | GO:0035066 | positive regulation of histone acetylation |
| BP | IEA | GO:0035067 | negative regulation of histone acetylation |
| BP | IDA | GO:0042036 | negative regulation of cytokine biosynthetic process |
| BP | IDA | GO:0042110 | T cell activation |
| BP | IDA | GO:0042130 | negative regulation of T cell proliferation |
| BP | IMP | GO:0042130 | negative regulation of T cell proliferation |
| BP | NAS | GO:0043029 | T cell homeostasis |
| BP | IDA | GO:0043433 | negative regulation of DNA-binding transcription factor activity |
| BP | IEA | GO:0045077 | negative regulation of interferon-gamma biosynthetic process |
| BP | IMP | GO:0045085 | negative regulation of interleukin-2 biosynthetic process |
| BP | TAS | GO:0045589 | regulation of regulatory T cell differentiation |
| BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IMP | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IMP | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | ISS | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | NAS | GO:0046007 | negative regulation of activated T cell proliferation |
| BP | IEA | GO:0048294 | negative regulation of isotype switching to IgE isotypes |
| BP | IEA | GO:0048302 | regulation of isotype switching to IgG isotypes |
| BP | IDA | GO:0050710 | negative regulation of cytokine secretion |
| BP | IDA | GO:0050777 | negative regulation of immune response |
| BP | IEA | GO:0050852 | T cell receptor signaling pathway |
| BP | IMP | GO:2000320 | negative regulation of T-helper 17 cell differentiation |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | NAS | GO:0032991 | protein-containing complex |
Gene expression in normal tissue: FOXP3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FOXP3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04659 | Th17 cell differentiation - Homo sapiens (human) |
| kegg | hsa05321 | Inflammatory bowel disease (IBD) - Homo sapiens (human) |
| pid | il2_stat5pathway | IL2 signaling events mediated by STAT5 |
| pid | nfat_tfpathway | Calcineurin-regulated NFAT-dependent transcription in lymphocytes |
| wikipathways | WP2328 | Allograft Rejection |
| wikipathways | WP366 | TGF-beta Signaling Pathway |
| wikipathways | WP4079 | RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) |
| wikipathways | WP4105 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8877330 | RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8939256 | RUNX1 regulates transcription of genes involved in WNT signaling |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FOXP3
CLASSFICATION
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