Aliases for FOXP3 Gene
Aliases for FOXP3 Gene
External Ids for FOXP3 Gene
- HGNC: 6106
- Entrez Gene: 50943
- Ensembl: ENSG00000049768
- OMIM: 300292
- UniProtKB: Q9BZS1
Previous HGNC Symbols for FOXP3 Gene
- IPEX
Previous GeneCards Identifiers for FOXP3 Gene
- GC0XM047890
- GC0XM047348
- GC0XM047913
- GC0XM048133
- GC0XM048863
- GC0XM048993
- GC0XM049106
- GC0XM046763
Summaries 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 Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked and Diabetes Mellitus, Insulin-Dependent. Among its related pathways are Th2 Differentiation Pathway and Th17 cell differentiation. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is FOXP4.
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).
Additional gene information for FOXP3 Gene
- Monarch Initiative
- Search for FOXP3 at DataMed
- Search for FOXP3 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXP3 Gene
Genomics for FOXP3 Gene
GeneHancer (GH) Regulatory Elements for FOXP3 Gene
Promoters and enhancers for FOXP3 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XI049266 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 550.8 | +0.9 | 918 | 4.7 | HDGF PKNOX1 SIN3A ZNF2 YY1 POLR2B E2F8 ZNF143 FOS KLF13 | PPP1R3F FOXP3 ENSG00000204620 FTSJ1 PRICKLE3 ENSG00000270012 RBM3 PLP2 CACNA1F USP27X-AS1 | |
| GH0XI049264 | Promoter | 0.5 | EPDnew | 550.8 | +5.0 | 4997 | 0.1 | FOXP3 CCDC22 | ||
| GH0XI049292 | Enhancer | 0.6 | ENCODE | 13 | -22.4 | -22361 | 0.2 | ZNF282 CTCF ZNF654 ZNF189 NCOA1 REST RAD21 CC2D1A CTBP1 SKIL | GAGE13 FOXP3 PPP1R3F PIR47304 ENSG00000270012 | |
| GH0XI048933 | Enhancer | 1.7 | FANTOM5 Ensembl ENCODE dbSUPER | 4.5 | +331.2 | 331227 | 9.7 | HDGF FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 IRF4 | ENSG00000279155 PQBP1 WAS OTUD5 SLC35A2 TIMM17B PIM2 TBC1D25 ENSG00000204620 ENSG00000228343 | |
| GH0XI049260 | Enhancer | 0.4 | FANTOM5 | 17.1 | +9.0 | 9020 | 0.3 | ZNF316 ZBTB33 EMSY | FOXP3 PPP1R3F PIM2 CCDC22 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around FOXP3 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for FOXP3 Gene
Genomic Locations for FOXP3 Gene
- chrX:49,250,436-49,269,727
- (GRCh38/hg38)
- Size:
- 19,292 bases
- Orientation:
- Minus strand
- chrX:49,106,897-49,121,288
- (GRCh37/hg19)
Genomic View for FOXP3 Gene
Genes around FOXP3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp11.23 by Ensembl
- Xp11.23 by Entrez Gene
- Xp11.23 by HGNC
FOXP3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence 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
- A5HJT1
- B7ZLG0
- B9UN80
- O60827
- Q14DD8
- Q4ZH51
Protein attributes for FOXP3 Gene
- Size:
- 431 amino acids
- Molecular mass:
- 47244 Da
- Quaternary structure:
-
- Homodimer (PubMed:21458306, PubMed:25567984). Dimerization is essential for its transcriptional regulator activity (PubMed:21458306). 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).
Protein Expression for FOXP3 Gene
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.
- Ubiquitination at isoforms=2, 3250, isoforms=2, 3252, posLast=263263, posLast=268268, and posLast=393393
Other Protein References for FOXP3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for FOXP3 (FoxP3)
- Cell Signaling Technology (CST) Antibodies for FOXP3 (FOXP3)
-
Custom Antibody ServicesOriGene Antibodies for FOXP3
- AM06466SU-N
- CF810541
- TA810541
- TA353832
- TA353831
- TA346949
- TA337092
- TA336416
- TA336306
- TA331137
- TA328027
- TA321829
- TA319911
- TA302662
- TA301515
- TA301514
- AP12444PU-N
- AP05296SU-N
- AP05296PU-N
- AM50273PU-T
- AM50273PU-S
- AM50273PU-N
- AM50150PU-T
- AM50150PU-S
- AM50150PU-N
- CF810610
- TA810610
- CF810609
- TA810609
- CF810552
- TA810552
- CF810544
- TA810544
- CF810543
- TA810543
- CF810542
- TA810542
- Novus Biologicals Antibodies for FOXP3
-
Abcam antibodies for FOXP3
-
Cloud-Clone Corp. Antibodies for FOXP3
- Invitrogen Antibodies for FOXP3
- antibodies-online: Search results for 526 available FOXP3 Antibodies ranked by validation data
- Compare Top FOXP3 Antibodies
-
Recommended
- 241 WB Antibodies (anti-human)
- 72 FACS Antibodies (anti-human)
- 26 IHC (fro) Antibodies (anti-human)
- 19 IHC (p) Antibodies (anti-human)
- 13 IHC Antibodies (anti-human)
- 11 IP Antibodies (anti-human)
- 4 IF Antibodies (anti-human)
- 3 DB Antibodies (anti-human)
- 156 WB Antibodies (anti-mouse)
- 67 FACS Antibodies (anti-mouse)
- 26 IHC (fro) Antibodies (anti-mouse)
- 11 IHC Antibodies (anti-mouse)
- 11 IP Antibodies (anti-mouse)
- 8 IHC (p) Antibodies (anti-mouse)
- 3 IF Antibodies (anti-mouse)
- 38 WB Antibodies (anti-rat)
- 23 FACS Antibodies (anti-rat)
- 4 IHC (p) Antibodies (anti-rat)
- 1 IF Antibody (anti-rat)
- 1 IHC Antibody (anti-rat)
- GeneTex FOXP3 antibody for FOXP3
-
Custom Antibody ServicesProSci Antibodies for FOXP3
-
Santa Cruz Biotechnology (SCBT) Antibodies for FOXP3
- Sino Biological Antibodies for FOXP3
Protein Products
-
OriGene Purified Proteins for FOXP3
- Search Origene for MassSpec and Protein Over-expression Lysates for FOXP3
- Origene Custom Protein Services for FOXP3
-
Cloud-Clone Corp. Proteins for FOXP3
- Search GeneTex for Proteins for FOXP3
-
Abcam proteins for FOXP3
Assay Products
- R&D Systems Staining Kits and Reagents and other biochemical assays for FOXP3 (FoxP3)
-
Cloud-Clone Corp. Assay Kits for FOXP3
No data available for DME Specific Peptides for FOXP3 Gene
Domains & Families for FOXP3 Gene
Gene Families for FOXP3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for FOXP3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FOXP3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9BZS1UniProtKB/Swiss-Prot:
FOXP3_HUMAN :- The fork-head DNA-binding domain is essential for its dimerization and interaction with NFATC2.
- Domain:
-
- The fork-head DNA-binding domain is essential for its dimerization and interaction with NFATC2.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | IBA | -- |
| GO:0001047 | core promoter binding | ISS | -- |
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | IEA,IMP | 21458306 |
| GO:0003700 | DNA binding transcription factor activity | NAS,IEA | 11138001 |
Phenotypes for FOXP3 Gene
- MGI mutant phenotypes for FOXP3:
-
inferred from 27 alleles
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- no phenotypic analysis
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for FOXP3:
-
- shRNA abundance <= 50%
- Decreased viability in esophageal squamous lineage
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased number of cells in monopolar arrest with EMD534085 (a Kinesin-5 inhibitor)
- Negative genetic interaction between BLM-/- and BLM+/+
Animal Models for FOXP3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for FOXP3
-
-
ViGene Biosciences lentiviral particle packaged cDNA for FOXP3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FOXP3 gene
- Search ViGene Biosciences for FOXP3
CRISPR Products
-
OriGene CRISPR knockouts for FOXP3
- genomics-online: gRNA clones - Search results for 132 available FOXP3 gene related products
- Overview of 132 available FOXP3 gene related products
- Applied Biological Materials CRISPR for FOXP3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FOXP3
- GenScript: Design CRISPR guide RNA sequences for FOXP3
miRNA for FOXP3 Gene
- miRTarBase miRNAs that target FOXP3
miRNA Products
- Search ViGene Biosciences for FOXP3
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for FOXP3
- Browse OriGene Inhibitory RNA Products For FOXP3
- genomics-online: shRNA clones - Search results for 132 available FOXP3 gene related products
- Overview of 132 available FOXP3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for FOXP3 gene
Clone Products
- Sino Biological Human cDNA Clone for FOXP3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for FOXP3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FOXP3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FOXP3
- Applied Biological Materials Clones for FOXP3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for FOXP3 (FoxP3)
Cell Line Products
-
Horizon Cell Lines for FOXP3
-
ViGene Biosciences adenoviral particle packaged cDNA for FOXP3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FOXP3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FOXP3 gene
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 3 |
| plasma membrane | 2 |
| cytosol | 2 |
| golgi apparatus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | IDA,IEA | 11483607 |
| GO:0005654 | nucleoplasm | TAS,IDA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 22678915 |
| GO:0043234 | protein complex | NAS | 16903909 |
Pathways & Interactions for FOXP3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Th17 cell differentiation | ||
| 2 | NF-kappaB Signaling | ||
| 3 | Wnt / Hedgehog / Notch | ||
| 4 | Th2 Differentiation Pathway | ||
| 5 | Cytokine production by Th17 cells in CF (Mouse model) | ||
Pathways by source for FOXP3 Gene
2 Cell Signaling Technology pathways for FOXP3 Gene
4 BioSystems pathways for FOXP3 Gene
2 KEGG pathways for FOXP3 Gene
1 GeneGo (Thomson Reuters) pathway for FOXP3 Gene
1 R&D Systems pathway for FOXP3 Gene
Interacting Proteins for FOXP3 Gene
Selected Interacting proteins:
ENSP00000365380
Q9BZS1-FOXP3_HUMAN
for FOXP3 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | 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 | IMP | -- |
Transcripts for FOXP3 Gene
mRNA/cDNA for FOXP3 Gene
- (7) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (6) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for FOXP3
- genomics-online: gRNA clones - Search results for 132 available FOXP3 gene related products
- Overview of 132 available FOXP3 gene related products
- Applied Biological Materials CRISPR for FOXP3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FOXP3
- GenScript: Design CRISPR guide RNA sequences for FOXP3
miRNA Products
- Search ViGene Biosciences for FOXP3
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for FOXP3
- Browse OriGene Inhibitory RNA Products For FOXP3
- genomics-online: shRNA clones - Search results for 132 available FOXP3 gene related products
- Overview of 132 available FOXP3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for FOXP3 gene
Clone Products
- Sino Biological Human cDNA Clone for FOXP3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for FOXP3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FOXP3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FOXP3
- Applied Biological Materials Clones for FOXP3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for FOXP3 (FoxP3)
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||
| SP5: | - | - |
Expression 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 (x10.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FOXP3 Gene
NURSA nuclear receptor signaling pathways regulating expression of FOXP3 Gene:
FOXP3SOURCE GeneReport for Unigene cluster for FOXP3 Gene:
Hs.247700Evidence on tissue expression from TISSUES for FOXP3 Gene
- Blood(3.8)
- Lymph node(3.5)
- Spleen(3.5)
- Intestine(2.7)
- Lung(2.6)
- Bone marrow(2.3)
- Skin(2.3)
- Nervous system(2.1)
- Liver(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXP3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- urinary
Organs:
Head and neck:
- brain
- ear
- eye
- head
- hypothalamus
- neck
- pituitary gland
- thyroid
Thorax:
- heart
- lung
Abdomen:
- intestine
- kidney
- large intestine
- pancreas
- small intestine
Pelvis:
- uterus
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- lymph node
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for FOXP3
-
OriGene qPCR primer pairs and template standards for FOXP3
No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for FOXP3 Gene
Orthologs for FOXP3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FOXP3 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FOXP3 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FOXP3 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Foxp3 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Foxp3 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FOXP3 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | FOXP3 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FOXP3 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | foxp3 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | foxp3b 34 |
|
OneToMany | |
| foxp3a 34 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4467 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | FoxP 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | fkh-8 34 |
|
ManyToMany | |
| fkh-7 34 |
|
ManyToMany |
- Species where no ortholog for FOXP3 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for FOXP3 Gene
Variants for FOXP3 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057524899 | uncertain-significance, Monogenic diabetes | 49,257,472(-) | C/T | coding_sequence_variant, missense_variant | |
| rs122467169 | pathogenic, Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] | 49,251,698(-) | A/C | coding_sequence_variant, missense_variant | |
| rs122467170 | pathogenic, Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] | 49,251,480(-) | C/T | coding_sequence_variant, missense_variant | |
| rs122467171 | pathogenic, Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 49,255,492(-) | CTCCT/CT | coding_sequence_variant, inframe_deletion | |
| rs122467172 | pathogenic, Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] | 49,251,692(-) | AA/GC | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
66.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.23;
24.61% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FOXP3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXP3 Gene
Disorders for FOXP3 Gene
(48) MalaCards diseases for FOXP3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodysregulation, polyendocrinopathy, and enteropathy, x-linked |
|
|
| diabetes mellitus, insulin-dependent |
|
|
| tropical spastic paraparesis |
|
|
| lymphoepithelioma-like thymic carcinoma |
|
|
| food allergy |
|
Search FOXP3 in MalaCards
View complete list of genes associated with diseases
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, ECO:0000269 PubMed:18951619, ECO:0000269 PubMed:21458306}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for FOXP3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for FOXP3 Gene
Publications for FOXP3 Gene
- Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. (PMID: 18951619) Gambineri E … Bacchetta R (The Journal of allergy and clinical immunology 2008) 3 4 22 58
- Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1. (PMID: 17377532) Ono M … Sakaguchi S (Nature 2007) 3 4 22 58
- 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 22 44 58
- Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. (PMID: 11138001) Brunkow ME … Ramsdell F (Nature genetics 2001) 2 3 4 58
- DNA binding by FOXP3 domain-swapped dimer suggests mechanisms of long-range chromosomal interactions. (PMID: 25567984) Chen Y … Chen L (Nucleic acids research 2015) 3 4 58
Products for FOXP3 Gene
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- Mammalian expression: PiggyBac
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Sources for FOXP3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (14) ProtoNet
- (15) Blocks
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- (23) PharmGKB
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- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
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- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
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- (60) TGDB
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- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
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- (77) SIMAP
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