Homo sapiens Gene: FOXP3
Summary
InnateDB Gene IDBG-66215.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol FOXP3
Gene Name forkhead box P3
Synonyms AIID; DIETER; IPEX; PIDX; XPID;
Species Homo sapiens
Ensembl Gene ENSG00000049768
Encoded Proteins
forkhead box P3
forkhead box P3
forkhead box P3
forkhead box P3
forkhead box P3
forkhead box P3
Protein Structure
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:49106897-49121288
Strand Reverse strand
Band p11.23
Transcripts
ENST00000376207 ENSP00000365380
ENST00000376199 ENSP00000365372
ENST00000376197 ENSP00000365369
ENST00000455775 ENSP00000396415
ENST00000518685 ENSP00000428952
ENST00000557224 ENSP00000451208
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 371 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 19 [view]
Protein-DNA 6 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 371 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003682 chromatin binding
GO:0003690 double-stranded DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0008301 DNA binding, bending
GO:0035035 histone acetyltransferase binding
GO:0042803 protein homodimerization activity
GO:0042826 histone deacetylase binding
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity
GO:0051059 NF-kappaB binding
GO:0051525 NFAT protein binding
Biological Process
GO:0001782 B cell homeostasis
GO:0001816 cytokine production
GO:0002262 myeloid cell homeostasis
GO:0002361 CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation
GO:0002456 T cell mediated immunity
GO:0002507 tolerance induction
GO:0002513 tolerance induction to self antigen
GO:0002637 regulation of immunoglobulin production
GO:0002666 positive regulation of T cell tolerance induction
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:0006338 chromatin remodeling
GO:0006355 regulation of transcription, DNA-dependent
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007389 pattern specification process
GO:0008285 negative regulation of cell proliferation
GO:0009615 response to virus
GO:0009790 embryo development
GO:0009791 post-embryonic development
GO:0010628 positive regulation of gene expression
GO:0021549 cerebellum development
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: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:0032914 positive regulation of transforming growth factor beta1 production
GO:0033092 positive regulation of immature T cell proliferation in thymus
GO:0035066 positive regulation of histone acetylation
GO:0035067 negative regulation of histone acetylation
GO:0042036 negative regulation of cytokine biosynthetic process
GO:0042110 T cell activation
GO:0042130 negative regulation of T cell proliferation
GO:0043029 T cell homeostasis
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045066 regulatory T cell differentiation
GO:0045077 negative regulation of interferon-gamma biosynthetic process
GO:0045085 negative regulation of interleukin-2 biosynthetic process
GO:0045591 positive regulation of regulatory T cell differentiation
GO:0045892 negative regulation of transcription, DNA-dependent
GO:0045893 positive regulation of transcription, DNA-dependent
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046007 negative regulation of activated T cell proliferation
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:0050710 negative regulation of cytokine secretion
GO:0050728 negative regulation of inflammatory response
GO:0050777 negative regulation of immune response
GO:0050852 T cell receptor signaling pathway
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Calcineurin-regulated NFAT-dependent transcription in lymphocytes
IL2 signaling events mediated by STAT5
Cross-References
SwissProt Q9BZS1
TrEMBL B7ZLG1 B9UN80
UniProt Splice Variant
Entrez Gene 50943
UniGene Hs.247700
RefSeq NM_001114377 NM_014009
HUGO 6106
OMIM 300292
CCDS CCDS14323 CCDS48109
HPRD 02242
IMGT
EMBL AF235097 AF277993 AJ005891 BC113401 BC113403 BC143785 BC143786 DQ010327 EF534714 EU855812
GenPept AAG53607 AAI13402 AAI13404 AAI43786 AAI43787 AAY27088 ABQ15210 ACJ46653 CAA06748
ImmGen FOXP3 (murine)
RNA Seq Atlas 50943