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Aliases for FOXP3 Gene

Aliases for FOXP3 Gene

  • Forkhead Box P3 2 3 5
  • Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked 2 3
  • Scurfin 3 4
  • IPEX 3 4
  • Immunodeficiency, Polyendocrinopathy, Enteropathy, X-Linked 3
  • Forkhead Box Protein P3 3
  • FOXP3delta7 3
  • DIETER 3
  • AIID 3
  • PIDX 3
  • XPID 3
  • JM2 3

External Ids for FOXP3 Gene

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

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]

CIViC summary for FOXP3 Gene

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 Wnt / Hedgehog / Notch. 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).

Gene Wiki entry for FOXP3 Gene

Additional gene information 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

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
GH0XJ049266 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +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
GH0XJ049264 Promoter 0.5 EPDnew 650.7 +5.0 4997 0.1 FOXP3 CCDC22
GH0XJ049292 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
GH0XJ048933 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
GH0XJ049260 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 from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOXP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FOXP3 gene promoter:
  • CREB
  • deltaCREB
  • AML1a

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)
Size:
14,392 bases
Orientation:
Minus strand

Genomic View for FOXP3 Gene

Genes around FOXP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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).

    Three dimensional structures from OCA and Proteopedia for FOXP3 Gene

    Alternative splice isoforms for FOXP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FOXP3 Gene

Post-translational modifications for FOXP3 Gene

  • 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.
  • 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).
  • 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.
  • 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 Lys393, Lys268, isoforms=2, 3263, isoforms=2, 3252, and isoforms=2, 3250
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies 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

Suggested Antigen Peptide Sequences for FOXP3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BZS1

UniProtKB/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.
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 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA,ISM 19274049
GO:0001047 core promoter binding ISS --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IMP,IEA 21458306
GO:0003700 DNA binding transcription factor activity NAS,IEA 11138001
genes like me logo Genes that share ontologies with FOXP3: view
genes like me logo Genes that share phenotypes with FOXP3: view

Human Phenotype Ontology for FOXP3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FOXP3 Gene

MGI Knock Outs for FOXP3:

Animal Model Products

miRNA for FOXP3 Gene

miRTarBase miRNAs that target FOXP3

Clone Products

  • Addgene plasmids for FOXP3

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FOXP3 gene
Compartment Confidence
nucleus 5
extracellular 3
plasma membrane 2
cytosol 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FOXP3 Gene

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 IDA,IEA 22678915
GO:0032991 protein-containing complex NAS 16903909
genes like me logo Genes that share ontologies with FOXP3: view

Pathways & Interactions for FOXP3 Gene

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

Pathways by source for FOXP3 Gene

1 R&D Systems pathway for FOXP3 Gene
2 Cell Signaling Technology pathways for FOXP3 Gene

SIGNOR curated interactions for FOXP3 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for FOXP3 Gene

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 --
genes like me logo Genes that share ontologies with FOXP3: view

Drugs & Compounds for FOXP3 Gene

(5) Drugs for FOXP3 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1603
Tacrolimus Approved, Investigational Pharma 1151

(3) Additional Compounds for FOXP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FOXP3: view

Transcripts for FOXP3 Gene

mRNA/cDNA for FOXP3 Gene

(4) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FOXP3 Gene

Forkhead box P3:
Representative Sequences:

Clone Products

  • Addgene plasmids for FOXP3

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for FOXP3 Gene



NURSA nuclear receptor signaling pathways regulating expression of FOXP3 Gene:

FOXP3

SOURCE GeneReport for Unigene cluster for FOXP3 Gene:

Hs.247700

Evidence on tissue expression from TISSUES for FOXP3 Gene

  • Blood(3.8)
  • Lymph node(3.5)
  • Spleen(3.5)
  • Intestine(2.7)
  • Lung(2.6)
  • Skin(2.4)
  • Bone marrow(2.3)
  • Liver(2.1)
  • Nervous system(2.1)

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
Regions:
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
genes like me logo Genes that share expression patterns with FOXP3: view

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.

Orthologs for FOXP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOXP3 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOXP3 34 33
  • 89.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FOXP3 34 33
  • 89.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Foxp3 16 34 33
  • 85.05 (n)
rat
(Rattus norvegicus)
Mammalia Foxp3 33
  • 84.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FOXP3 34
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FOXP3 34
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXP3 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia foxp3 33
  • 55.56 (n)
zebrafish
(Danio rerio)
Actinopterygii foxp3b 34
  • 30 (a)
OneToMany
foxp3a 34
  • 28 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4467 33
fruit fly
(Drosophila melanogaster)
Insecta FoxP 34
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fkh-8 34
  • 17 (a)
ManyToMany
fkh-7 34
  • 14 (a)
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)

Evolution for FOXP3 Gene

ENSEMBL:
Gene Tree for FOXP3 (if available)
TreeFam:
Gene Tree for FOXP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FOXP3: view image

Paralogs for FOXP3 Gene

(5) SIMAP similar genes for FOXP3 Gene using alignment to 2 proteins:

  • FOXP3_HUMAN
  • B7ZLG1_HUMAN
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 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

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

Variant ID Type Subtype PubMed ID
esv21578 CNV gain 19812545
esv32909 CNV gain+loss 17666407
nsv469734 CNV gain+loss 16826518
nsv471602 CNV gain 15918152
nsv528292 CNV gain 19592680
nsv6895 CNV insertion 18451855

Variation tolerance for FOXP3 Gene

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

Human Gene Mutation Database (HGMD)
FOXP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXP3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXP3 Gene

Disorders for FOXP3 Gene

MalaCards: The human disease database

(47) MalaCards diseases for FOXP3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with FOXP3: view

No data available for Genatlas for FOXP3 Gene

Publications for FOXP3 Gene

  1. 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
  2. Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1. (PMID: 17377532) Ono M … Sakaguchi S (Nature 2007) 3 4 22 58
  3. 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
  4. 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
  5. 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

  • Addgene plasmids for FOXP3

Sources for FOXP3 Gene

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