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

FOXP3 Gene

protein-coding   GIFtS: 66
GCID: GC0XM049106

Forkhead Box P3

(Previous names: immune dysregulation, polyendocrinopathy, enteropathy, X-linked)
(Previous symbol: IPEX)
Microbiology & Infectious Diseases Congress
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FOXP3 Gene:
The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators.
Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX),
also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding
different isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for FOXP3 Gene: 
FOXP3 (forkhead box P3) is a protein-coding gene. Diseases associated with FOXP3 include ipex syndrome, and immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome, and among its related super-pathways are Cytokine production by Th17 cells in CF and Calcium signaling in the CD4+ TCR pathway. 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 FOXN3.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_079573.4  NC_018934.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for FOXP3 at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BZS1

  • FOXP3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FOXP3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001107849.1  NP_054728.2  

    ENSEMBL proteins: 
     ENSP00000365380   ENSP00000451208   ENSP00000428952   ENSP00000365369   ENSP00000365372  
     ENSP00000396415  

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    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 ----
    GO:0005737cytoplasm NAS16903909
    GO:0043234protein complex NAS16903909

    FOXP3 for ontologies           About GeneDecksing



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

    5/6 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/16 molecular function terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IBA--
    GO:0003690double-stranded DNA binding ----
    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--
         
    FOXP3 for ontologies           About GeneDecksing


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

         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

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FOXP3 
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    SwitchGear 3'UTR luciferase reporter plasmidFOXP3 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FOXP3 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cytokine production by Th17 cells in CF (Mouse model)
    Cytokine production by Th17 cells in CF (Mouse model)0.72
    2Calcium signaling in the CD4+ TCR pathway
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes0.38
    3Leishmaniasis
    Inflammatory bowel disease (IBD)0.34
    4IL2 signaling events mediated by PI3K
    IL2 signaling events mediated by STAT50.34
    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

    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): 5/68 biological process terms (GO ID links to tree view) (see all 68):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 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)

    Search CenterWatch for drugs/clinical trials and news about FOXP3

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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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:

    AF277993 AJ005891 NM_014009 BM832990 BP338852 BM918693 

    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)      FOXP3 embryonic expression: see
    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 
     5/3 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

    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 chordates.

    Orthologs for FOXP3 gene from 3/10 species (see all 10)    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_001199347.11  NP_001186276.11 
     75796765 
    lizard
    (Anolis carolinensis)
    Reptilia FOXP36
    Uncharacterized protein
    63(a)
    1 ↔ 1
    2(89108082-89110227)
    zebrafish
    (Danio rerio)
    Actinopterygii foxp3b6
    forkhead box P3b
    30(a)
    1 ↔ 1
    8(24289354-24306939)


    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
    FOXN32  FOXJ12  FOXK12  FOXN42  FOXK22  FOXP42  FOXN12  FOXG12  
    FOXJ32  FOXP22  FOXJ22  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, 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) 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

    10/243 SNPs in FOXP3 are shown (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
    ----------
    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--------
    rs289354771,2,4
    CImmunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)4 pathogenic149027635(-) TTGTGC/TGGGTG 4 R W mis1 ese30--------
    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/119 diseases for FOXP3 (see all 119):    About MalaCards
    ipex syndrome    immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome    immunodysregulation, polyendocrinopathy and enteropathy x-linked    secretory diarrhea
    autoimmune enteropathy    pancreas adenocarcinoma    trachoma    inverted papilloma
    lymphopenia    cutaneous leishmaniasis    food allergy    chronic graft versus host disease
    megacolon    leishmaniasis    relapsing-remitting multiple sclerosis    neonatal diabetes mellitus
    diarrhea    type 1 diabetes    eczema    adult t-cell leukemia

    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

    10/28 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)
    About This Section

    PubMed articles for FOXP3 gene, integrated from 9 sources (see all 710):
    (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. No mutation in the FOXP3 gene in acute leukemias. (PubMed id 20933283)1, 4 Kim M.S....Lee S.H. (2011)
    5. Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk. (PubMed id 20398921)1, 4 Suttner K....Kabesch M. (2010)
    6. Polymorphisms in the FOXP3 gene in Han Chinese psoria sis patients. (PubMed id 19880293)1, 4 Gao L....Liu Y. (2010)
    7. 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. (2010)
    8. Association of functional polymorphisms related to th e transcriptional level of FOXP3 with prognosis of autoimmune thyroid diseases. (PubMed id 20942809)1, 4 Inoue N....Iwatani Y. (2010)
    9. Interleukin-9 polymorphism in infants with respirator y syncytial virus infection: an opposite effect in boys and girls. (PubMed id 20503287)1, 4 Schuurhof A....Janssen R. (2010)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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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 Kegg: 50943 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,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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