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Aliases for FOXP3 Gene

Aliases for FOXP3 Gene

  • Forkhead Box P3 2 3
  • IPEX 3 4 6
  • Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked 2 3
  • Scurfin 3 4
  • AIID 3 6
  • PIDX 3 6
  • XPID 3 6
  • Immunodeficiency, Polyendocrinopathy, Enteropathy, X-Linked 3
  • Forkhead Box Protein P3 3
  • FOXP3delta7 3
  • DIETER 3
  • JM2 3

External Ids for FOXP3 Gene

Previous Symbols for FOXP3 Gene

  • IPEX

Summaries for FOXP3 Gene

Entrez Gene Summary for FOXP3 Gene

  • 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]

GeneCards Summary for FOXP3 Gene

FOXP3 (Forkhead Box P3) is a Protein Coding gene. Diseases associated with FOXP3 include ipex syndrome and immunodysregulation, polyendocrinopathy, and enteropathy, x-linked. Among its related pathways are Wnt / Hedgehog / Notch and Cytokine production by Th17 cells in CF. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is FOXP1.

UniProtKB/Swiss-Prot for FOXP3 Gene

  • 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 acetylase KAT5 and histone deacetylase HDAC7 (PubMed:17360565). Can activate the expression of TNFRSF18, IL2RA and CTLA4 and repress the expression of IL2 and IFNG via its association with transcription factor RUNX1 (PubMed:17377532). Inhibits the differentiation of IL17 producing helper T-cells (Th17) by antagonizing RORC function, leading to down-regulation of IL17 expression, favoring Treg development (PubMed:18368049). Inhibits the transcriptional activator activity of RORA (PubMed:18354202). Can repress the expression of IL2 and IFNG via its association with transcription factor IKZF4 (By similarity).

Gene Wiki entry for FOXP3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXP3 Gene

Genomics for FOXP3 Gene

Genomic Location for FOXP3 Gene

Start:
49,250,436 bp from pter
End:
49,265,738 bp from pter
Size:
15,303 bases
Orientation:
Minus strand

Genomic View for FOXP3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FOXP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXP3 Gene

Regulatory Elements for FOXP3 Gene

Proteins for FOXP3 Gene

  • Protein details for FOXP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZS1-FOXP3_HUMAN
    Recommended name:
    Forkhead box protein P3
    Protein Accession:
    Q9BZS1
    Secondary Accessions:
    • A5HJT1
    • B7ZLG0
    • B9UN80
    • O60827
    • Q14DD8
    • Q4ZH51

    Protein attributes for FOXP3 Gene

    Size:
    431 amino acids
    Molecular mass:
    47244 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with IKZF3. Isoform 1 (via LXXLL motif), but not isoform 2, interacts with isoform 4 of RORA (via AF-2 motif). Interacts with STUB1, HSPA8 and HSPA1A/B. Interacts with PPP1CA, PPP1CB and PPP1CG. Interacts with KAT5 and HDAC7. Interacts with HDAC9 in the absence of T-cell stimulation. Interacts with USP7. Interacts with isoform 2 of ZFP90 and can form a complex with TRIM28 in the presence of isoform 2 of ZFP90. Interacts with RUNX1. Interacts with RORC. Interacts with RELA and NFATC2. Interacts with RUNX2, RUNX3 and IKZF4 (By similarity).

    Three dimensional structures from OCA and Proteopedia for FOXP3 Gene

    Alternative splice isoforms for FOXP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FOXP3 Gene

Proteomics data for FOXP3 Gene at MOPED

Post-translational modifications for FOXP3 Gene

  • Acetylation on lysine residues stabilizes FOXP3 and promotes differentiation of T-cells into induced regulatory T-cells (iTregs) associated with suppressive functions. Deacetylated by SIRT1.
  • Phosphorylation at Ser-418 regulates its transcriptional repressor activity and consequently, regulatory T-cells (Treg) suppressive function. Dephosphorylated at Ser-418 by protein phosphatase 1 (PP1) in Treg cells derived from patients with rheumatoid arthritis. Phosphorylation by CDK2 negatively regulates its transcriptional activity and protein stability (By similarity).
  • Polyubiquitinated, leading to its proteasomal degradation in regulatory T-cells (Treg) which is mediated by STUB1 in a HSPA1A/B-dependent manner. Deubiquitinated by USP7 leading to increase in protein stability.
  • Undergoes proteolytic cleavage in activated regulatory T-cells (Treg), and can be cleaved at either the N- or C-terminal site, or at both sites.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXP3 Gene

No data available for DME Specific Peptides for FOXP3 Gene

Domains for FOXP3 Gene

Gene Families for FOXP3 Gene

HGNC:
  • FOX :Forkhead boxes

Protein Domains for FOXP3 Gene

UniProtKB/Swiss-Prot:

FOXP3_HUMAN
Domain:
  • Contains 1 fork-head DNA-binding domain.:
    • Q9BZS1
Similarity:
  • Contains 1 C2H2-type zinc finger.:
    • Q9BZS1
genes like me logo Genes that share domains with FOXP3: view

Function for FOXP3 Gene

Molecular function for FOXP3 Gene

UniProtKB/Swiss-Prot 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 acetylase KAT5 and histone deacetylase HDAC7 (PubMed:17360565). Can activate the expression of TNFRSF18, IL2RA and CTLA4 and repress the expression of IL2 and IFNG via its association with transcription factor RUNX1 (PubMed:17377532). Inhibits the differentiation of IL17 producing helper T-cells (Th17) by antagonizing RORC function, leading to down-regulation of IL17 expression, favoring Treg development (PubMed:18368049). Inhibits the transcriptional activator activity of RORA (PubMed:18354202). Can repress the expression of IL2 and IFNG via its association with transcription factor IKZF4 (By similarity).
UniProtKB/Swiss-Prot Induction: Down-regulated in regulatory T-cells (Treg) during inflammation.

Gene Ontology (GO) - Molecular Function for FOXP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA --
GO:0001047 core promoter binding ISS --
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 11138001
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA --
GO:0003714 transcription corepressor activity IEA --
genes like me logo Genes that share ontologies with FOXP3: view
genes like me logo Genes that share phenotypes with FOXP3: view

Animal Models for FOXP3 Gene

MGI Knock Outs for FOXP3:

miRNA for FOXP3 Gene

miRTarBase miRNAs that target FOXP3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FOXP3 Gene

Localization for FOXP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXP3 Gene

Nucleus. Cytoplasm. 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOXP3 Gene COMPARTMENTS Subcellular localization image for FOXP3 gene
Compartment Confidence
nucleus 5
extracellular 2
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for FOXP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus NAS 16903909
GO:0005737 cytoplasm NAS 16903909
GO:0043234 protein complex NAS 16903909
genes like me logo Genes that share ontologies with FOXP3: view

Pathways for FOXP3 Gene

genes like me logo Genes that share pathways with FOXP3: view

Pathways by source for FOXP3 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for FOXP3 Gene
2 Cell Signaling Technology pathways for FOXP3 Gene

Gene Ontology (GO) - Biological Process for FOXP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001782 B cell homeostasis IEA --
GO:0001816 cytokine production IEA --
GO:0002262 myeloid cell homeostasis IEA --
GO:0002361 CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation --
genes like me logo Genes that share ontologies with FOXP3: view

Compounds for FOXP3 Gene

(6) Novoseek inferred chemical compound relationships for FOXP3 Gene

Compound -log(P) Hits PubMed IDs
rapamycin 44.1 9
tgf beta1 36.2 2
cyclosporin a 12.8 2
pge2 10.2 5
p003 0 1
genes like me logo Genes that share compounds with FOXP3: view

Transcripts for FOXP3 Gene

mRNA/cDNA for FOXP3 Gene

Unigene Clusters for FOXP3 Gene

Forkhead box P3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FOXP3 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1:
SP2: -
SP3: -
SP4: -
SP5: - -

Relevant External Links for FOXP3 Gene

GeneLoc Exon Structure for
FOXP3
ECgene alternative splicing isoforms for
FOXP3

Expression for FOXP3 Gene

mRNA expression in normal human tissues for FOXP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXP3 Gene

This gene is overexpressed in Whole Blood (10.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FOXP3 Gene

SOURCE GeneReport for Unigene cluster for FOXP3 Gene Hs.247700

genes like me logo Genes that share expressions with FOXP3: view

Orthologs for FOXP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOXP3 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FOXP3 36
  • 89.25 (n)
  • 90.02 (a)
FOXP3 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOXP3 36
  • 89.69 (n)
  • 90.93 (a)
FOXP3 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Foxp3 36
  • 85.05 (n)
  • 86.92 (a)
Foxp3 16
Foxp3 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FOXP3 37
  • 42 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FOXP3 37
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Foxp3 36
  • 84.3 (n)
  • 86.48 (a)
lizard
(Anolis carolinensis)
Reptilia FOXP3 37
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia foxp3 36
  • 55.56 (n)
  • 45.13 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4467 36
zebrafish
(Danio rerio)
Actinopterygii foxp3a 37
  • 28 (a)
OneToMany
foxp3b 37
  • 30 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta FoxP 37
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fkh-7 37
  • 14 (a)
ManyToMany
fkh-8 37
  • 17 (a)
ManyToMany
Species with no ortholog for FOXP3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FOXP3 Gene

ENSEMBL:
Gene Tree for FOXP3 (if available)
TreeFam:
Gene Tree for FOXP3 (if available)

Paralogs for FOXP3 Gene

Paralogs for FOXP3 Gene

Selected SIMAP similar genes for FOXP3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FOXP3: view

Variants for FOXP3 Gene

Sequence variations from dbSNP and Humsavar for FOXP3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs2232364 -- 49,259,888(-) TGGAA(A/C/G/T)GGGGA intron-variant
rs2232365 -- 49,259,429(-) ACCCC(A/G)TCTCT intron-variant
rs2232366 -- 49,258,209(-) GGGAG(G/T)GGGGC intron-variant
rs2232367 Likely benign 49,256,855(-) CCCAG(C/T)ACCCT reference, synonymous-codon
rs2232368 -- 49,255,822(-) TGCAT(A/G)GAATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FOXP3 Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV Gain+Loss 17666407
nsv528292 CNV Gain 19592680
nsv469734 CNV Complex 16826518
nsv471602 CNV Gain 15918152
nsv6895 CNV Insertion 18451855
esv21578 CNV Gain 19812545

Relevant External Links for FOXP3 Gene

HapMap Linkage Disequilibrium report
FOXP3
Human Gene Mutation Database (HGMD)
FOXP3
Locus Specific Mutation Databases (LSDB)
FOXP3

Disorders for FOXP3 Gene

(2) OMIM Diseases for FOXP3 Gene (300292)

UniProtKB/Swiss-Prot

FOXP3_HUMAN
  • Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]: Characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, thrombocytopenia, anemia and eczema. It is usually lethal in infancy. {ECO:0000269 PubMed:11120765, ECO:0000269 PubMed:11137992, ECO:0000269 PubMed:11137993, ECO:0000269 PubMed:11768393}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(28) Novoseek inferred disease relationships for FOXP3 Gene

Disease -log(P) Hits PubMed IDs
autoimmune diseases 70.1 15
polyendocrinopathies autoimmune 69.6 4
autoimmunity 67 11
colitis 39.4 2
inflammation 38.3 11

Relevant External Links for FOXP3

GeneTests
FOXP3
GeneReviews
FOXP3
Genetic Association Database (GAD)
FOXP3
Human Genome Epidemiology (HuGE) Navigator
FOXP3
genes like me logo Genes that share disorders with FOXP3: view

Publications for FOXP3 Gene

  1. No association between variation of the FOXP3 gene and common type 1 diabetes in the Sardinian population. (PMID: 15220219) Zavattari P. … Cucca F. (Diabetes 2004) 3 23 49
  2. Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1. (PMID: 17377532) Ono M. … Sakaguchi S. (Nature 2007) 3 4 23
  3. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. (PMID: 11138001) Brunkow M.E. … Ramsdell F. (Nat. Genet. 2001) 2 3 4
  4. Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). (PMID: 11768393) Kobayashi I. … Kobayashi K. (J. Med. Genet. 2001) 3 4
  5. X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. (PMID: 10677306) Bennett C.L. … Chance P.F. (Am. J. Hum. Genet. 2000) 2 3

Products for FOXP3 Gene

  • Addgene plasmids for FOXP3

Sources for FOXP3 Gene

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