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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FOXP3 Gene

protein-coding   GIFtS: 64
GCID: GC0XM049106

forkhead box P3

(Previous names: immune dysregulation, polyendocrinopathy, enteropathy,...)
(Previous symbol: IPEX)
 Explore 127 diseases affiliated with
FOXP3 via our new
 Human Malady Compendium 
Biological research products
for FOXP3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Forkhead Box P31 2     JM21
IPEX1 2 3 5     SCURFIN1
AIID1 2 5     FOXP3delta72
PIDX1 2 5     Forkhead Box Protein P32
XPID1 2 5     Immunodeficiency, Polyendocrinopathy, Enteropathy, X-Linked2
DIETER1 2     Scurfin3
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked1 2     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FOXP3:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_079573.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FOXP3 gene promoter:
         CREB   AML1a   deltaCREB   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Nucleus (Potential)
1 PDB 3D structure from and Proteopedia for FOXP3:
3QRF (3D)    
Secondary accessions: A5HJT1 B7ZLG0 O60827 Q14DD8 Q4ZH51
Alternative splicing: 3 isoforms:  Q9BZS1-1   Q9BZS1-2   Q9BZS1-3   (No experimental confirmation available)

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BZS1

  • FOXP3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000365380   ENSP00000451208   ENSP00000428952   ENSP00000365369   ENSP00000365372  
     ENSP00000396415  

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    Uscn Proteins for FOXP3

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus NAS16903909
    GO:0005667transcription factor complex IBA--
    GO:0005737cytoplasm NAS16903909
    GO:0043234protein complex NAS16903909


    FOXP3 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FOXP3 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR011991 WHTH_trsnscrt_rep_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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

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

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    Gene Ontology (GO): 5/15 molecular function terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IBA--
    GO:0003690double-stranded DNA binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS11138001
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--
    GO:0003714transcription corepressor activity IBA--


    FOXP3 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for FOXP3: Foxp3tm1Tch Foxp3tm1.1Ayr
         15/21 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  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    FOXP3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch1.00
    2Lymphocyte Signaling
    Lymphocyte Signaling1.00
    3Calcium signaling in the CD4+ TCR pathway
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes0.38
    4Mucin expression in CF via IL-6, IL-17 signaling pathways
    Cytokine production by Th17 cells in CF (Mouse model)0.37
    5IL2 signaling events mediated by PI3K
    IL2 signaling events mediated by STAT50.34

    Pathway sources
    See GeneCards unified pathways
    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 
        IL2 signaling events mediated by STAT5
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes



    FOXP3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FOXP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/29 Interacting proteins for FOXP3 (Q9BZS11, 3 ENSP000003653804) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    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): 5/72 biological process terms (GO ID links to tree view) (see all 72):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0001782B cell homeostasis IBA--
    GO:0001816cytokine production IEA--
    GO:0002053NOT positive regulation of mesenchymal cell proliferation IRD--
    GO:0002262myeloid cell homeostasis IBA--


    FOXP3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FOXP3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FOXP3
    6 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about FOXP3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Additional cDNA 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FOXP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGCCTTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See FOXP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FOXP3

    SOURCE GeneReport for Unigene cluster: Hs.247700
        SABiosciences Expression via Pathway-Focused 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

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FOXP3 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FOXP36
    FOXP46
    Uncharacterized protein
    2(a)
    14(a)
    possible ortholog
    1 ↔ 1
    1(78726042-78727833)
    26(4670411-4694004)
    lizard
    (Anolis carolinensis)
    Reptilia FOXP36
    --
    64(a)
    1 ↔ 1
    2(89108082-89110227)
    zebrafish
    (Danio rerio)
    Actinopterygii foxp3b6
    foxp3a6
    forkhead box P3a
    28(a)
    20(a)
    possible ortholog
    1 ↔ 1
    8(24289354-24306939)
    8(26569253-26582486)
    fruit fly
    (Drosophila melanogaster)
    Insecta FoxP6
    Forkhead box P
    19(a)
    1 ↔ 1
    3R(5551742-5555165)
    worm
    (Caenorhabditis elegans)
    Secernentea fkh-96
    ForKHead transcription factor family member (fkh-9...
    12(a)
    possible ortholog
    X(3817407-3826944)


    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)
    About This Section
    Paralogs for FOXP3 gene
    FOXJ12  FOXN32  FOXK12  FOXN42  FOXN12  FOXK22  FOXP42  FOXG12  
    FOXJ32  FOXJ22  FOXP22  FOXN22  FOXP12  
    5 SIMAP similar genes for FOXP3 using alignment to 3 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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/186 NCBI SNPs in FOXP3 are shown (see all 186    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289354771,2
    Cpathogenic49107902(-) TTGTGC/TGGGTG 4 R W mis1 ese31Minor allele frequency- T:0.00NA 2
    rs560667731,2
    C,--49107623(+) GATGGA/GGGAGG 2 -- ut310--------
    rs1453689241,2
    F--49107842(+) GCTCCG/ATTTCT 4 /R /W mis11Minor allele frequency- A:0.00NA 4436
    rs1918001071,2
    C,--49107978(+) TGGGCA/GTCAAC 2 -- int10--------
    rs1830475141,2
    --49108404(+) GAAGTA/GTCGGG 2 -- int10--------
    rs1877808181,2
    --49108428(+) GATGGA/GTGTGG 2 -- int10--------
    rs114654791,2
    C,F,--49108482(-) ACCCCA/GCTCCC 2 -- int14Minor allele frequency- G:0.03NA EU CSA 95
    rs1910919591,2
    --49108577(+) GTTGGA/GGAAGG 2 -- int10--------
    rs22808831,2
    C,F,H,--49109128(+) GGGAAC/TGGTGC 2 -- int120--NA EU NS EA 2284
    rs1835169801,2
    --49109157(+) ACATAC/TTGGGG 2 -- int10--------

    HapMap Linkage Disequilibrium report for FOXP3 (49106897 - 49121288 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for FOXP3
         4 CNVs: 0824 73973 2278 7789
    Human Gene Mutation Database (HGMD): FOXP3

    Locus Specific Mutation Databases (LSDB): FOXP3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    FOXP3 for disorders           About GeneDecksing

    OMIM gene information: 300292   
    OMIM disorders: 304790  222100  
    UniProtKB/Swiss-Prot: FOXP3_HUMAN, Q9BZS1
  • Defects in FOXP3 are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)
  • [MIM:304790]; also known as X-linked autoimmunity-immunodeficiency syndrome. IPEX is characterized by neonatal onset
    insulin-dependent diabetes mellitus, infections, secretory diarrhea, trombocytopenia, anemia and eczema. It is usually
    lethal in infancy

    20/127 diseases for FOXP3 (see all 127):    About MalaCards
    immunodysregulation, polyendocrinopathy and enteropathy x-linked    immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome    immunodeficiency    relapsing-remitting multiple sclerosis
    diffuse large b-cell lymphoma    human t-cell leukemia virus type 1    hypersensitivity reaction type ii disease    immunodysregulation
    graft versus host disease    b-cell lymphomas    diabetes mellitus    secretory diarrhea
    gastroesophageal reflux disease    systemic lupus erythematosus    inverted papilloma    non-hodgkin lymphoma
    food allergy    type 1 diabetes mellitus    major depressive disorder    autoimmune enteropathy

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

    10/28 Novoseek 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
    IPEX Syndrome

    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)
    About This Section

    PubMed articles for FOXP3 gene, integrated from 9 sources (see all 660):
    (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. (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. (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. (2012)
    4. Activation of the aryl hydrocarbon receptor induces h uman type 1 regulatory T cell-like and Foxp3(+) regulatory T cells. (PubMed id 20676092)1, 2 Gandhi R....Quintana F.J. (2010)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes. (PubMed id 12750858)1, 4 Bassuny W.M....Hara T. (2003)
    8. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. (PubMed id 11137992)1, 2 Wildin R.S....Brunkow M.E. (2001)
    9. Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). (PubMed id 11768393)1, 2 Kobayashi I....Kobayashi K. (2001)
    10. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. (PubMed id 11137993)1, 2 Bennett C.L.... Ochs H.D. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 50943 HGNC: 6106 AceView: FOXP3 Ensembl:ENSG00000049768 euGenes: HUgn50943
    ECgene: FOXP3 H-InvDB: FOXP3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/FOXP3
    Wikipedia http://en.wikipedia.org/wiki/FOXP3

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FOXP3 gene:
    Search GeneIP for patents involving FOXP3

    GeneCards and IP:
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