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FOXP3 Gene

protein-coding   GIFtS: 65
GCID: GC0XM049106

Forkhead Box P3

(Previous names: immune dysregulation, polyendocrinopathy, enteropathy, X-linked)
(Previous symbol: IPEX)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Forkhead Box P31 2     DIETER2
IPEX1 2 3 5     FOXP3delta72
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked1 2     Forkhead Box Protein P32
AIID2 5     Immunodeficiency, Polyendocrinopathy, Enteropathy, X-Linked2
PIDX2 5     scurfin2
XPID2 5     Scurfin3

External Ids:    HGNC: 61061   Entrez Gene: 509432   Ensembl: ENSG000000497687   OMIM: 3002925   UniProtKB: Q9BZS13   

Export aliases for FOXP3 gene to outside databases

Previous GC identifers: GC0XM047890 GC0XM047348 GC0XM047913 GC0XM048133 GC0XM048863 GC0XM048993 GC0XM046763


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 immunodysregulation, polyendocrinopathy and enteropathy x-linked, and ipex syndrome. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is FOXP4.

UniProtKB/Swiss-Prot: FOXP3_HUMAN, Q9BZS1
Function: Probable transcription factor. Plays a critical role in the control of immune response

Gene Wiki entry for FOXP3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_079573.5  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FOXP3 gene promoter:
         CREB   AML1a   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFOXP3 promoter sequence
   Search Chromatin IP Primers for FOXP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FOXP3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

FOXP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXP3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM049106:  view genomic region     (about GC identifiers)

Start:
49,106,897 bp from pter      End:
49,121,288 bp from pter
Size:
14,392 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FOXP3_HUMAN, Q9BZS1 (See protein sequence)
Recommended Name: Forkhead box protein P3  
Size: 431 amino acids; 47244 Da
Subunit: Interacts with IKZF3
1 PDB 3D structure from and Proteopedia for FOXP3:
3QRF (3D)    
Secondary accessions: A5HJT1 B7ZLG0 B9UN80 O60827 Q14DD8 Q4ZH51
Alternative splicing: 4 isoforms:  Q9BZS1-1   Q9BZS1-2   Q9BZS1-3   Q9BZS1-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FOXP3: NX_Q9BZS1

Explore proteomics data for FOXP3 at MOPED

Post-translational modifications: 

  • Acetylation on lysine residues stabilizes FOXP3 and promotes differentiation of T-cells into induced regulatory
    T-cells (iTregs) associated with suppressive functions. Deacetylated by SIRT11
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FOXP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001107849.1  NP_054728.2  

    ENSEMBL proteins: 
     ENSP00000365380   ENSP00000451208   ENSP00000428952   ENSP00000365369   ENSP00000365372  
     ENSP00000396415  

    FOXP3 Human Recombinant Protein Products:

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    FOXP3 Antibody Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FOX: Forkhead boxes

    Selected InterPro protein domains (see all 6):
     IPR011991 WHTH_DNA-bd_dom
     IPR015880 Znf_C2H2-like
     IPR018122 TF_fork_head_CS
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR001766 TF_fork_head

    Graphical View of Domain Structure for InterPro Entry Q9BZS1

    ProtoNet protein and cluster: Q9BZS1

    UniProtKB/Swiss-Prot: FOXP3_HUMAN, Q9BZS1
    Similarity: Contains 1 C2H2-type zinc finger
    Similarity: Contains 1 fork-head DNA-binding domain


    FOXP3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FOXP3_HUMAN, Q9BZS1
    Function: Probable transcription factor. Plays a critical role in the control of immune response

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS11138001
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA--
    GO:0003714transcription corepressor activity IBA--
    GO:0005515protein binding IPI16652169
         
    FOXP3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FOXP3:
     Decreased number of cells in m 

         Selected MGI mutant phenotypes (inferred from 26 alleles(MGI details for Foxp3) (see all 21):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    FOXP3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FOXP3: Foxp3tm1Tch Foxp3tm1.1Ayr

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FOXP3
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FOXP3

    miRNA
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    miRTarBase miRNAs that target FOXP3:
    hsa-mir-31-5p (MIRT001180)

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    4 qRT-PCR Assays for microRNAs that regulate FOXP3:
    hsa-miR-3164 hsa-miR-3611 hsa-miR-1827 hsa-miR-490-5p
    SwitchGear 3'UTR luciferase reporter plasmidFOXP3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FOXP3

    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXP3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FOXP3_HUMAN, Q9BZS1: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular2
    plasma membrane2
    cytoskeleton1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus NAS16903909
    GO:0005737cytoplasm NAS16903909
    GO:0043234protein complex NAS16903909

    FOXP3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for FOXP3 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Cytokine production by Th17 cells in CF
    Cytokine production by Th17 cells in CF Mouse model 0.72
    2Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes0.38
    3IL2 signaling events mediated by PI3K
    IL2 signaling events mediated by STAT50.34
    4Leishmaniasis
    Inflammatory bowel disease (IBD)0.34
    5IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-2 Signaling and its Primary Biological Effects in Different Immune Cell Types0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for FOXP3
        IL-2 Signaling and its Primary Biological Effects in Different Immune Cell Types


    2 Cell Signaling Technology (CST) Pathways for FOXP3
        Wnt / Hedgehog / Notch
    Lymphocyte Signaling

    1 GeneGo (Thomson Reuters) Pathway for FOXP3
        Cytokine production by Th17 cells in CF (Mouse model)

    2 BioSystems Pathways for FOXP3
        Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    IL2 signaling events mediated by STAT5



    1 Kegg Pathway  (Kegg details for FOXP3):
        Inflammatory bowel disease (IBD)


    FOXP3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FOXP3 (see all 9): 
              Stem Cell Transcription Factors in human mouse rat
              Multiple Sclerosis in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Diabetes in human mouse rat
              Innate & Adaptive Immune Responses in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FOXP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FOXP3 (Q9BZS11, 3 ENSP000003653804) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKZF3Q9UKT91, 3EBI-983719,EBI-747204 I2D: score=1 
    HDAC4P565243, ENSP000002646064I2D: score=1 STRING: ENSP00000264606
    IKZF4Q9H2S93, ENSP000002620324I2D: score=1 STRING: ENSP00000262032
    NFATC1O956443, ENSP000003278504I2D: score=1 STRING: ENSP00000327850
    NFATC2Q134693, ENSP000003793304I2D: score=2 STRING: ENSP00000379330
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 66):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001782B cell homeostasis IBA--
    GO:0001816cytokine production IEA--
    GO:0002053NOT positive regulation of mesenchymal cell proliferation IBA--
    GO:0002262myeloid cell homeostasis IBA--
    GO:0002329pre-B cell differentiation IBA--

    FOXP3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FOXP3

    6 Novoseek inferred chemical compound relationships for FOXP3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rapamycin 44.1 12 18424697 (2), 16003241 (2), 18819845 (1), 18283119 (1) (see all 7)
    tgf beta1 36.2 2 19597336 (1), 15249539 (1)
    cyclosporin a 12.8 3 19034005 (1), 17028180 (1)
    pge2 10.2 6 16034085 (5)
    p003 0 1 16003241 (1)
    nitric oxide 0 2 19267400 (1), 20001421 (1)



    FOXP3 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FOXP3 gene (2 alternative transcripts): 
    NM_001114377.1  NM_014009.3  

    Unigene Cluster for FOXP3:

    Forkhead box P3
    Hs.247700  [show with all ESTs]
    Unigene Representative Sequence: NM_014009
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376207(uc011mnb.2 uc011mnc.2 uc004dnf.4 uc004dne.4)
    ENST00000557224 ENST00000518685 ENST00000376197(uc022bwa.1) ENST00000376199
    ENST00000455775
    miRNA
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    hsa-miR-3164 hsa-miR-3611 hsa-miR-1827 hsa-miR-490-5p
    SwitchGear 3'UTR luciferase reporter plasmidFOXP3 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF277993.1 AK292052.1 AK299988.1 BC113401.1 BC113403.1 BC143785.1 BC143786.1 DQ010327.1 
    EF534714.1 EU855812.1 

    3 DOTS entries:

    DT.95248575  DT.121322321  DT.100736036 

    6 AceView cDNA sequences:

    AJ005891 NM_014009 BM832990 AF277993 BM918693 BP338852 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for FOXP3    About this scheme

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


    ECgene alternative splicing isoforms for FOXP3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FOXP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGCCTTCT
    FOXP3 Expression
    About this image


    FOXP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Regulatory T cells
             cd14+ cells   
     
     Eye (Sensory Organs)
             Retina
     
     Brain (Nervous System)
             Hypothalamus
    FOXP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FOXP3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.247700
        Pathway & Disease-focused RT2 Profiler PCR Arrays including FOXP3 (see all 9): 
              Stem Cell Transcription Factors in human mouse rat
              Multiple Sclerosis in human mouse rat
              T-cell & B-cell Activation in human mouse rat
              Diabetes in human mouse rat
              Innate & Adaptive Immune Responses in human mouse rat

    Primer
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    Search QuantiFast Probe-based Assays in human, mouse, rat FOXP3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXP3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FOXP3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Foxp31 , 5 forkhead box P31, 5 85.05(n)1
    86.92(a)1
      X (3.41 cM)5
    203711  NM_054039.21  NP_473380.11 
     75796765 
    lizard
    (Anolis carolinensis)
    Reptilia FOXP36
    forkhead box P3
    62(a)
    1 ↔ 1
    2(89108082-89110227)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia foxp31 forkhead box P3 55.56(n)
    45.13(a)
      100485747  XM_002940971.2  XP_002941017.2 
    zebrafish
    (Danio rerio)
    Actinopterygii foxp3b6
    foxp3a6
    forkhead box P3a
    30(a)
    28(a)
    1 ↔ many
    1 ↔ many
    8(24289354-24306939) ENSDARG00000078279
    8(26569253-26582486) ENSDARG00000055750
    fruit fly
    (Drosophila melanogaster)
    Insecta FoxP6
    Forkhead box P
    22(a)
    1 → many
    3R(5551742-5555165)
    worm
    (Caenorhabditis elegans)
    Secernentea fkh-86
    fkh-76
    Protein FKH-8, isoform a (fkh-8) mRNA, complete cd...
    Protein FKH-7, isoform a (fkh-7) mRNA, complete cd...
    17(a)
    14(a)
    many ↔ many
    many ↔ many
    II(6189580-6191402) WBGene00001440
    IV(5584661-5610364) WBGene00001439


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FOXP3 gene
    FOXP42  FOXP22  FOXP12  
    5 SIMAP similar genes for FOXP3 using alignment to 2 protein entries:     FOXP3_HUMAN (see all proteins):
    DKFZp762O213    hFKHLB    FOXP4    FOXP2    FOXP1

    FOXP3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FOXP3 (see all 243)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289354771,2,,4
    CImmunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)4 pathogenic149027635(-) TTGTGC/TGGGTG 4 R W mis1 ese30--------
    VAR_0113314
    Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)4--see VAR_0113312 F C mis40--------
    VAR_0235694
    Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)4--see VAR_0235692 I V mis40--------
    VAR_0113324
    Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)4--see VAR_0113322 A T mis40--------
    rs22808831,2
    C,F,H--49028861(+) GGGAAC/TGGTGC 2 -- int120--NA EU NS EA 2284
    rs1835169801,2
    --49028890(+) ACATAC/TTGGGG 2 -- int10--------
    rs1877724201,2
    --49029197(+) TTGGGA/GCTGGG 2 -- int10--------
    rs1925024361,2
    --49029252(+) CAGGAA/GTTTGG 2 -- int10--------
    rs773623521,2
    F--49029272(+) CCCCCC/ACCCCA 2 -- int11Minor allele frequency- A:0.50NA 4
    rs726506941,2
    C--49029289(-) GAGGAA/GGAAGA 2 -- int10--------

    HapMap Linkage Disequilibrium report for FOXP3 (49106897 - 49121288 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for FOXP3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6895CNV Insertion18451855
    esv21578CNV Gain19812545
    nsv528292CNV Gain19592680
    nsv471602CNV Gain15918152
    esv32909CNV Gain+Loss17666407
    nsv469734CNV Complex16826518

    Human Gene Mutation Database (HGMD): FOXP3
    Locus Specific Mutation Databases (LSDB): FOXP3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FOXP3
    DNA2.0 Custom Variant and Variant Library Synthesis for FOXP3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300292   
    OMIM disorders: 304790  222100  
    UniProtKB/Swiss-Prot: FOXP3_HUMAN, Q9BZS1
  • 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. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • Selected diseases for FOXP3 (see all 138):    
    About MalaCards
    immunodysregulation, polyendocrinopathy and enteropathy x-linked    ipex syndrome    immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome    secretory diarrhea
    autoimmune enteropathy    trachoma    pancreas adenocarcinoma    type 1 diabetes
    food allergy    lymphopenia    inverted papilloma    cutaneous leishmaniasis
    megacolon    chronic graft versus host disease    hypersplenism    leishmaniasis
    relapsing-remitting multiple sclerosis    neonatal diabetes mellitus    diarrhea    omenn syndrome

    14 diseases from the University of Copenhagen DISEASES database for FOXP3:
    Hypersensitivity reaction type II disease     Hypersensitivity reaction type I disease     Multiple sclerosis     Asthma
    Arthritis     Diabetes mellitus     Inflammatory bowel disease     Melanoma
    Connective tissue disease     Dermatitis     Lymphoma     Allergic rhinitis
    Lymphopenia     Eosinophilia

    FOXP3 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for FOXP3 gene (see all 28)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autoimmune diseases 70.1 18 16920951 (1), 19568423 (1), 16216670 (1), 16741580 (1) (see all 15)
    polyendocrinopathies autoimmune 69.6 5 19122524 (2), 16682278 (1), 15703687 (1)
    autoimmunity 67 14 16682278 (1), 16741580 (1), 18317533 (1), 20309000 (1) (see all 11)
    colitis 39.4 4 19471859 (1), 19117830 (1)
    inflammation 38.3 13 16275384 (4), 18451325 (1), 15912097 (1), 19953886 (1) (see all 8)
    paraparesis tropical spastic 33.1 3 16652169 (1), 18639344 (1)
    hypersensitivity contact 30.8 1 19358983 (1)
    eczema 28 3 19471859 (1), 17217101 (1), 18951619 (1)
    leukemia t-cell 25.6 3 18510697 (2), 15466453 (1)
    lymphopenia 24.5 1 17484867 (1)

    GeneTests: FOXP3
    GeneReviews: FOXP3
    Genetic Association Database (GAD): FOXP3
    Human Genome Epidemiology (HuGE) Navigator: FOXP3 (36 documents)

    Export disorders for FOXP3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FOXP3 gene, integrated from 10 sources (see all 738):
    (articles sorted by number of sources associating them with FOXP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. (PubMed id 11138001)1, 2, 3 Brunkow M.E.... Ramsdell F. (Nat. Genet. 2001)
    2. No association between variation of the FOXP3 gene and common type 1 diabetes in the Sardinian population. (PubMed id 15220219)1, 4, 9 Zavattari P....Cucca F. (Diabetes 2004)
    3. Three novel acetylation sites in the Foxp3 transcription factor regulate the suppressive activity of regulatory T cells. (PubMed id 22312127)1, 2 Kwon H.S.... Ott M. (J. Immunol. 2012)
    4. Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. (PubMed id 21085187)1, 4 Birlea S.A....Spritz R.A. (J. Invest. Dermatol. 2011)
    5. No mutation in the FOXP3 gene in acute leukemias. (PubMed id 20933283)1, 4 Kim M.S....Lee S.H. (Leuk. Res. 2011)
    6. Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk. (PubMed id 20398921)1, 4 Suttner K....Kabesch M. (J. Allergy Clin. Immunol. 2010)
    7. Polymorphisms in the FOXP3 gene in Han Chinese psoriasis patients. (PubMed id 19880293)1, 4 Gao L....Liu Y. (J. Dermatol. Sci. 2010)
    8. Association of functional polymorphisms related to the transcriptional level of FOXP3 with prognosis of autoimmune thyroid diseases. (PubMed id 20942809)1, 4 Inoue N....Iwatani Y. (Clin. Exp. Immunol. 2010)
    9. Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. (PubMed id 20503287)1, 4 Schuurhof A....Janssen R. (Pediatr. Pulmonol. 2010)
    10. Activation of the aryl hydrocarbon receptor induces human type 1 regulatory T cell-like and Foxp3(+) regulatory T cells. (PubMed id 20676092)1, 2 Gandhi R.... Quintana F.J. (Nat. Immunol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 50943 HGNC: 6106 AceView: FOXP3 Ensembl:ENSG00000049768 euGenes: HUgn50943
    ECgene: FOXP3 Kegg: 50943 H-InvDB: FOXP3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FOXP3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FOXP3 Genetics and Cytogenetics in Oncology and Haematology
    FOXP3basehttp://bioinf.uta.fi/FOXP3base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FOXP3[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/FOXP3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FOXP3 gene:
    Search GeneIP for patents involving FOXP3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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