GENERAL INFORMATIONi
Gene namei FOXP3
Synonyms AIID, DIETER, IPEX, JM2, PIDX, SCURFIN, XPID
Gene descriptioni Forkhead box P3
Protein classi Disease related genes
Human disease related genes
Transcription factors
Predicted locationi Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome X
Cytoband p11.23
Chromosome location (bp) 49250438 - 49264800
Number of transcriptsi 7
Ensembl ENSG00000049768 (version 109)
Entrez gene 50943
HGNC HGNC:6106
UniProt Q9BZS1 (UniProt - Evidence at protein level)
neXtProt NX_Q9BZS1
GeneCards FOXP3
Antibodypedia FOXP3 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i Transcriptional regulator which is crucial for the development and inhibitory function of regulatory T-cells (Treg) 1, 2, 3, 4, 5, 6, 7, 8. 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 9. Can act either as a transcriptional repressor or a transcriptional activator depending on its interactions with other transcription factors, histone acetylases and deacetylases 10, 11, 12, 13, 14. 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) 15, 16, 17, 18, 19. Inhibits cytokine production and T-cell effector function by repressing the activity of two key transcription factors, RELA and NFATC2 20. Mediates transcriptional repression of IL2 via its association with histone acetylase KAT5 and histone deacetylase HDAC7 21. Can activate the expression of TNFRSF18, IL2RA and CTLA4 and repress the expression of IL2 and IFNG via its association with transcription factor RUNX1 22. Inhibits the differentiation of IL17 producing helper T-cells (Th17) by antagonizing RORC function, leading to down-regulation of IL17 expression, favoring Treg development 23. Inhibits the transcriptional activator activity of RORA 24. Can repress the expression of IL2 and IFNG via its association with transcription factor IKZF4 (By similarity). show less
Molecular function (UniProt)i Activator, DNA-binding, Repressor
Biological process (UniProt)i Transcription, Transcription regulation
Ligand (UniProt)i Metal-binding, Zinc
Gene summary (Entrez)i 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] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
FOXP3-202
ENSP00000365372
ENST00000376199
Q9BZS1
[Direct mapping] Forkhead box protein P3 Forkhead box protein P3, C-terminally processed Forkhead box protein P3 41 kDa form
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Helix-turn-helix domains
Disease related genes
Human disease related genes
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000785 [chromatin]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001227 [DNA-binding transcription repressor activity, RNA polymerase II-specific]
GO:0001818 [negative regulation of cytokine production]
GO:0002362 [CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment]
GO:0002667 [regulation of T cell anergy]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0008285 [negative regulation of cell population proliferation]
GO:0009615 [response to virus]
GO:0031064 [negative regulation of histone deacetylation]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0032689 [negative regulation of interferon-gamma production]
GO:0032693 [negative regulation of interleukin-10 production]
GO:0032700 [negative regulation of interleukin-17 production]
GO:0032703 [negative regulation of interleukin-2 production]
GO:0032713 [negative regulation of interleukin-4 production]
GO:0032792 [negative regulation of CREB transcription factor activity]
GO:0032831 [positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation]
GO:0032991 [protein-containing complex]
GO:0035035 [histone acetyltransferase binding]
GO:0035066 [positive regulation of histone acetylation]
GO:0042110 [T cell activation]
GO:0042130 [negative regulation of T cell proliferation]
GO:0042803 [protein homodimerization activity]
GO:0042826 [histone deacetylase binding]
GO:0043029 [T cell homeostasis]
GO:0043433 [negative regulation of DNA-binding transcription factor activity]
GO:0043565 [sequence-specific DNA binding]
GO:0045591 [positive regulation of regulatory T cell differentiation]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046007 [negative regulation of activated T cell proliferation]
GO:0046872 [metal ion binding]
GO:0050777 [negative regulation of immune response]
GO:0051059 [NF-kappaB binding]
GO:0051525 [NFAT protein binding]
GO:1990837 [sequence-specific double-stranded DNA binding]
GO:2000320 [negative regulation of T-helper 17 cell differentiation]
Show all
 396 aa
43.4 kDa 		No 0
FOXP3-203
ENSP00000365380
ENST00000376207
Q9BZS1
[Direct mapping] Forkhead box protein P3 Forkhead box protein P3, C-terminally processed Forkhead box protein P3 41 kDa form
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Helix-turn-helix domains
Disease related genes
Human disease related genes
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000785 [chromatin]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001227 [DNA-binding transcription repressor activity, RNA polymerase II-specific]
GO:0001782 [B cell homeostasis]
GO:0001818 [negative regulation of cytokine production]
GO:0002262 [myeloid cell homeostasis]
GO:0002361 [CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation]
GO:0002362 [CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment]
GO:0002456 [T cell mediated immunity]
GO:0002507 [tolerance induction]
GO:0002513 [tolerance induction to self antigen]
GO:0002517 [T cell tolerance induction]
GO:0002637 [regulation of immunoglobulin production]
GO:0002666 [positive regulation of T cell tolerance induction]
GO:0002667 [regulation of T cell anergy]
GO:0002669 [positive regulation of T cell anergy]
GO:0002677 [negative regulation of chronic inflammatory response]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0002851 [positive regulation of peripheral T cell tolerance induction]
GO:0002870 [T cell anergy]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0003714 [transcription corepressor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006338 [chromatin remodeling]
GO:0006351 [DNA-templated transcription]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0006366 [transcription by RNA polymerase II]
GO:0006954 [inflammatory response]
GO:0008285 [negative regulation of cell population proliferation]
GO:0009314 [response to radiation]
GO:0009615 [response to virus]
GO:0010467 [gene expression]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0014045 [establishment of endothelial blood-brain barrier]
GO:0016573 [histone acetylation]
GO:0031064 [negative regulation of histone deacetylation]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0032496 [response to lipopolysaccharide]
GO:0032689 [negative regulation of interferon-gamma production]
GO:0032693 [negative regulation of interleukin-10 production]
GO:0032700 [negative regulation of interleukin-17 production]
GO:0032703 [negative regulation of interleukin-2 production]
GO:0032713 [negative regulation of interleukin-4 production]
GO:0032714 [negative regulation of interleukin-5 production]
GO:0032715 [negative regulation of interleukin-6 production]
GO:0032720 [negative regulation of tumor necrosis factor production]
GO:0032753 [positive regulation of interleukin-4 production]
GO:0032792 [negative regulation of CREB transcription factor activity]
GO:0032831 [positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation]
GO:0032905 [transforming growth factor beta1 production]
GO:0032914 [positive regulation of transforming growth factor beta1 production]
GO:0032991 [protein-containing complex]
GO:0033080 [immature T cell proliferation in thymus]
GO:0033092 [positive regulation of immature T cell proliferation in thymus]
GO:0035035 [histone acetyltransferase binding]
GO:0035066 [positive regulation of histone acetylation]
GO:0035067 [negative regulation of histone acetylation]
GO:0035739 [CD4-positive, alpha-beta T cell proliferation]
GO:0042098 [T cell proliferation]
GO:0042110 [T cell activation]
GO:0042130 [negative regulation of T cell proliferation]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0042826 [histone deacetylase binding]
GO:0043029 [T cell homeostasis]
GO:0043367 [CD4-positive, alpha-beta T cell differentiation]
GO:0043372 [positive regulation of CD4-positive, alpha-beta T cell differentiation]
GO:0043433 [negative regulation of DNA-binding transcription factor activity]
GO:0043565 [sequence-specific DNA binding]
GO:0045066 [regulatory T cell differentiation]
GO:0045591 [positive regulation of regulatory T cell differentiation]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046007 [negative regulation of activated T cell proliferation]
GO:0046633 [alpha-beta T cell proliferation]
GO:0046642 [negative regulation of alpha-beta T cell proliferation]
GO:0046651 [lymphocyte proliferation]
GO:0046872 [metal ion binding]
GO:0048289 [isotype switching to IgE isotypes]
GO:0048294 [negative regulation of isotype switching to IgE isotypes]
GO:0048302 [regulation of isotype switching to IgG isotypes]
GO:0050672 [negative regulation of lymphocyte proliferation]
GO:0050687 [negative regulation of defense response to virus]
GO:0050728 [negative regulation of inflammatory response]
GO:0050777 [negative regulation of immune response]
GO:0050852 [T cell receptor signaling pathway]
GO:0051059 [NF-kappaB binding]
GO:0051525 [NFAT protein binding]
GO:1901355 [response to rapamycin]
GO:1990837 [sequence-specific double-stranded DNA binding]
GO:2000320 [negative regulation of T-helper 17 cell differentiation]
GO:2000562 [negative regulation of CD4-positive, alpha-beta T cell proliferation]
Show all
 431 aa
47.2 kDa 		No 0
FOXP3-204
ENSP00000396415
ENST00000455775
B7ZLG1
[Direct mapping] FOXP3 protein; Forkhead box protein P3
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Primary immunodeficiency
Show all
GO:0002361 [CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of DNA-templated transcription]
GO:0043565 [sequence-specific DNA binding]
GO:0046872 [metal ion binding]
Show all
 454 aa
49.7 kDa 		No 0
FOXP3-205
ENSP00000428952
ENST00000518685
Q9BZS1
[Direct mapping] Forkhead box protein P3 Forkhead box protein P3, C-terminally processed Forkhead box protein P3 41 kDa form
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Helix-turn-helix domains
Disease related genes
Human disease related genes
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000785 [chromatin]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001227 [DNA-binding transcription repressor activity, RNA polymerase II-specific]
GO:0001818 [negative regulation of cytokine production]
GO:0002362 [CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment]
GO:0002667 [regulation of T cell anergy]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0008285 [negative regulation of cell population proliferation]
GO:0009615 [response to virus]
GO:0031064 [negative regulation of histone deacetylation]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0032689 [negative regulation of interferon-gamma production]
GO:0032693 [negative regulation of interleukin-10 production]
GO:0032700 [negative regulation of interleukin-17 production]
GO:0032703 [negative regulation of interleukin-2 production]
GO:0032713 [negative regulation of interleukin-4 production]
GO:0032792 [negative regulation of CREB transcription factor activity]
GO:0032831 [positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation]
GO:0032991 [protein-containing complex]
GO:0035035 [histone acetyltransferase binding]
GO:0035066 [positive regulation of histone acetylation]
GO:0042110 [T cell activation]
GO:0042130 [negative regulation of T cell proliferation]
GO:0042803 [protein homodimerization activity]
GO:0042826 [histone deacetylase binding]
GO:0043029 [T cell homeostasis]
GO:0043433 [negative regulation of DNA-binding transcription factor activity]
GO:0043565 [sequence-specific DNA binding]
GO:0045591 [positive regulation of regulatory T cell differentiation]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046007 [negative regulation of activated T cell proliferation]
GO:0046872 [metal ion binding]
GO:0050777 [negative regulation of immune response]
GO:0051059 [NF-kappaB binding]
GO:0051525 [NFAT protein binding]
GO:1990837 [sequence-specific double-stranded DNA binding]
GO:2000320 [negative regulation of T-helper 17 cell differentiation]
Show all
 404 aa
44.4 kDa 		No 0
FOXP3-206
ENSP00000451208
ENST00000557224
Q9BZS1
[Direct mapping] Forkhead box protein P3 Forkhead box protein P3, C-terminally processed Forkhead box protein P3 41 kDa form
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Helix-turn-helix domains
Disease related genes
Human disease related genes
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000785 [chromatin]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001227 [DNA-binding transcription repressor activity, RNA polymerase II-specific]
GO:0001818 [negative regulation of cytokine production]
GO:0002362 [CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment]
GO:0002667 [regulation of T cell anergy]
GO:0002725 [negative regulation of T cell cytokine production]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006338 [chromatin remodeling]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0008285 [negative regulation of cell population proliferation]
GO:0009615 [response to virus]
GO:0031064 [negative regulation of histone deacetylation]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0032689 [negative regulation of interferon-gamma production]
GO:0032693 [negative regulation of interleukin-10 production]
GO:0032700 [negative regulation of interleukin-17 production]
GO:0032703 [negative regulation of interleukin-2 production]
GO:0032713 [negative regulation of interleukin-4 production]
GO:0032792 [negative regulation of CREB transcription factor activity]
GO:0032831 [positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation]
GO:0032991 [protein-containing complex]
GO:0035035 [histone acetyltransferase binding]
GO:0035066 [positive regulation of histone acetylation]
GO:0042110 [T cell activation]
GO:0042130 [negative regulation of T cell proliferation]
GO:0042803 [protein homodimerization activity]
GO:0042826 [histone deacetylase binding]
GO:0043029 [T cell homeostasis]
GO:0043433 [negative regulation of DNA-binding transcription factor activity]
GO:0043565 [sequence-specific DNA binding]
GO:0045591 [positive regulation of regulatory T cell differentiation]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046007 [negative regulation of activated T cell proliferation]
GO:0046872 [metal ion binding]
GO:0050777 [negative regulation of immune response]
GO:0051059 [NF-kappaB binding]
GO:0051525 [NFAT protein binding]
GO:1990837 [sequence-specific double-stranded DNA binding]
GO:2000320 [negative regulation of T-helper 17 cell differentiation]
Show all
 456 aa
49.8 kDa 		No 0
FOXP3-208
ENSP00000498236
ENST00000652559
A0A494BZV0
[Direct mapping] Forkhead box protein P3
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Primary immunodeficiency
Show all
 154 aa
15.7 kDa 		No 0
FOXP3-209
ENSP00000507726
ENST00000684155
A0A804HK12
[Direct mapping] Forkhead box protein P3
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Primary immunodeficiency
Show all
 89 aa
9.2 kDa 		No 0

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