FOXP3 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | FOXP3 |
| Official Name | forkhead box P3 [Source:HGNC Symbol;Acc:HGNC:6106] |
| Ensembl ID | ENSG00000049768 |
| Bio databases IDs | |
| Aliases | forkhead box P3 |
| Synonyms | AIID, DIETER, Forkhead box P3, FOXP3A, IPEX, JM2, PIDX, RGD1562112, scurfin, sf, XPID |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FOXP3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- FH_FOX
- nucleic acid binding
- transcription co-repressor
- transcription factor binding
- histone deacetylase binding
- leucine zipper domain
- protein binding
- sequence-specific DNA binding
- identical protein binding
- DNA binding
- Forkhead domain
- FORKHEAD
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- FOXP coiled-coil domain
- double-stranded DNA binding
- protein homodimerization
- zinc finger domain
- transcription factor activity
- histone acetyltransferase binding
Pathways
Biological processes and signaling networks where the FOXP3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- inflammatory bowel disease
- autoimmune inflammation
- neoplasia
- kidney disease
- anemia
- insulin-dependent diabetes mellitus secretory diarrhea syndrome
- metastasis
- mastocytosis
- autoimmune disease
- immunodeficiency
role in cell
- expression in
- activity
- activation
- production in
- growth
- quantity
- proliferation
- transcription in
- number
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- cell surface
- intracellular space
- perinuclear region
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FOXP3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of interleukin-10 production
- transcription from RNA polymerase II promoter
- CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment
- T cell homeostasis
- negative regulation of chronic inflammatory response
- inflammatory response
- tolerance induction to self antigen
- negative regulation of transcription, DNA-dependent
- positive regulation of transcription, DNA-dependent
- isotype switching to IgE isotypes
- negative regulation of interferon-gamma production
- negative regulation of tumor necrosis factor production
- negative regulation of NF-kappaB transcription factor activity
- negative regulation of sequence-specific DNA binding transcription factor activity
- positive regulation of immature T cell proliferation in thymus
- negative regulation of interleukin-6 production
- positive regulation of transforming growth factor beta1 production
- negative regulation of interleukin-4 production
- negative regulation of interleukin-5 production
- negative regulation of T cell cytokine production
- regulatory T cell differentiation
- negative regulation of T-helper 17 cell differentiation
- negative regulation of isotype switching to IgE isotypes
- negative regulation of CD4-positive, alpha-beta T cell proliferation
- negative regulation of defense response to virus
- positive regulation of interleukin-4 production
- positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation
- establishment of endothelial blood-brain barrier
- negative regulation of CREB transcription factor activity
- negative regulation of cell proliferation
- T cell activation
- myeloid cell homeostasis
- response to virus
- positive regulation of transcription from RNA polymerase II promoter
- immature T cell proliferation in thymus
- positive regulation of peripheral T cell tolerance induction
- positive regulation of regulatory T cell differentiation
- negative regulation of transcription from RNA polymerase II promoter
- T cell mediated immunity
- chromatin remodeling
- negative regulation of interleukin-2 production
- regulation of isotype switching to IgG isotypes
- CD4-positive, alpha-beta T cell proliferation
- transforming growth factor beta1 production
- negative regulation of immune response
- negative regulation of interleukin-17 production
- T cell receptor signaling pathway
- regulation of transcription, DNA-dependent
- negative regulation of activated T cell proliferation
- T cell anergy
- B cell homeostasis
- regulation of transcription from RNA polymerase II promoter
- regulation of T cell anergy
- positive regulation of T cell anergy
- negative regulation of T cell proliferation
- response to lipopolysaccharide
- negative regulation of cytokine production
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- macromolecular complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- histone acetyltransferase binding
- protein homodimerization activity
- histone deacetylase binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- NF-kappaB binding
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- transcription corepressor activity
- metal ion binding
- NFAT protein binding