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    FOXP3 forkhead box P3 [ Homo sapiens (human) ]

    Gene ID: 50943, updated on 15-May-2017
    Official Symbol
    FOXP3provided by HGNC
    Official Full Name
    forkhead box P3provided by HGNC
    Primary source
    HGNC:HGNC:6106
    See related
    Ensembl:ENSG00000049768 MIM:300292; Vega:OTTHUMG00000024135
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JM2; AIID; IPEX; PIDX; XPID; DIETER
    Summary
    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]
    Orthologs
    Location:
    Xp11.23
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (49250436..49266505, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49106897..49122200, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel subunit alpha1 F Neighboring gene heat shock protein family B (small) member 1 pseudogene 2 Neighboring gene coiled-coil domain containing 22 Neighboring gene protein phosphatase 1 regulatory subunit 3F Neighboring gene G antigen 10

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the expression of forkhead box P3 (FOXP3) in human primary T cells PubMed
    tat Subjects immunized with HIV-1 Tat increase the percentage of FOXP3 expression in the CD4+/CD25+ T cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Allograft Rejection, organism-specific biosystem (from WikiPathways)
      Allograft Rejection, organism-specific biosystemThis pathway illustrates molecular interactions involved in the fundamental adaptive immune response for allograft destruction. This pathway was adapted in large part from the KEGG pathway http://www...
    • Calcineurin-regulated NFAT-dependent transcription in lymphocytes, organism-specific biosystem (from Pathway Interaction Database)
      Calcineurin-regulated NFAT-dependent transcription in lymphocytes, organism-specific biosystem
      Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    • IL2 signaling events mediated by STAT5, organism-specific biosystem (from Pathway Interaction Database)
      IL2 signaling events mediated by STAT5, organism-specific biosystem
      IL2 signaling events mediated by STAT5
    • Inflammatory bowel disease (IBD), organism-specific biosystem (from KEGG)
      Inflammatory bowel disease (IBD), organism-specific biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • Inflammatory bowel disease (IBD), conserved biosystem (from KEGG)
      Inflammatory bowel disease (IBD), conserved biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
    • Th17 cell differentiation, organism-specific biosystem (from KEGG)
      Th17 cell differentiation, organism-specific biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    • Th17 cell differentiation, conserved biosystem (from KEGG)
      Th17 cell differentiation, conserved biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC141961, MGC141963

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NF-kappaB binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    NFAT protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    core promoter binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone acetyltransferase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    histone deacetylase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription corepressor activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment TAS
    Traceable Author Statement
    more info
    PubMed 
    T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    T cell homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    T cell mediated immunity IEA
    Inferred from Electronic Annotation
    more info
     
    T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin remodeling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    myeloid cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of CREB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of T cell cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of T cell cytokine production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of T cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of T-helper 17 cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of activated T cell proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of chronic inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cytokine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cytokine secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of histone acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of histone deacetylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of interferon-gamma biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of interferon-gamma production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of interferon-gamma production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of interleukin-10 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of interleukin-17 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of interleukin-2 biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of interleukin-2 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of interleukin-2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of interleukin-4 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of interleukin-5 production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of interleukin-6 production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of isotype switching to IgE isotypes IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of T cell anergy IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of histone acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of immature T cell proliferation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-4 production IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of peripheral T cell tolerance induction IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transforming growth factor beta1 production IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of T cell anergy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of isotype switching to IgG isotypes IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    tolerance induction to self antigen IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    forkhead box protein P3
    Names
    FOXP3delta7
    immune dysregulation, polyendocrinopathy, enteropathy, X-linked
    immunodeficiency, polyendocrinopathy, enteropathy, X-linked
    scurfin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007392.1 RefSeqGene

      Range
      5001..19392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_62

    mRNA and Protein(s)

    1. NM_001114377.1NP_001107849.1  forkhead box protein P3 isoform b

      See identical proteins and their annotated locations for NP_001107849.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.
      Source sequence(s)
      AF277993, BQ184335, DB342786
      Consensus CDS
      CCDS48109.1
      UniProtKB/Swiss-Prot
      Q9BZS1
      Related
      ENSP00000365372.2, ENST00000376199.6
      Conserved Domains (3) summary
      cd00059
      Location:302374
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
      pfam07793
      Location:1111
      DUF1631; Protein of unknown function (DUF1631)
      pfam16159
      Location:158225
      FOXP-CC; FOXP coiled-coil domain
    2. NM_014009.3NP_054728.2  forkhead box protein P3 isoform a

      See identical proteins and their annotated locations for NP_054728.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
      Source sequence(s)
      AF277993, BQ184335, DB342786
      Consensus CDS
      CCDS14323.1
      UniProtKB/Swiss-Prot
      Q9BZS1
      Related
      ENSP00000365380.4, OTTHUMP00000025832, ENST00000376207.8, OTTHUMT00000060814
      Conserved Domains (2) summary
      cd00059
      Location:337409
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
      pfam16159
      Location:193260
      FOXP-CC; FOXP coiled-coil domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      49250436..49266505 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029566.1XP_016885055.1  forkhead box protein P3 isoform X4

      Conserved Domains (3) summary
      cd00059
      Location:410482
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
      pfam07793
      Location:109219
      DUF1631; Protein of unknown function (DUF1631)
      pfam16159
      Location:266333
      FOXP-CC; FOXP coiled-coil domain
    2. XM_011543916.2XP_011542218.1  forkhead box protein P3 isoform X1

      See identical proteins and their annotated locations for XP_011542218.1

      Conserved Domains (3) summary
      pfam07793
      Location:109219
      DUF1631; Protein of unknown function (DUF1631)
      pfam16159
      Location:266333
      FOXP-CC; FOXP coiled-coil domain
      cl00061
      Location:410542
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    3. XM_017029565.1XP_016885054.1  forkhead box protein P3 isoform X3

      Conserved Domains (2) summary
      cd00059
      Location:422494
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
      pfam16159
      Location:278345
      FOXP-CC; FOXP coiled-coil domain
    4. XM_006724533.2XP_006724596.2  forkhead box protein P3 isoform X2

      See identical proteins and their annotated locations for XP_006724596.2

      UniProtKB/TrEMBL
      B7ZLG1
      Related
      ENSP00000396415.3, ENST00000455775.6
      Conserved Domains (2) summary
      cd00059
      Location:360432
      FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
      pfam16159
      Location:216283
      FOXP-CC; FOXP coiled-coil domain
    5. XM_017029567.1XP_016885056.1  forkhead box protein P3 isoform X5

      Related
      ENSP00000451208.1, OTTHUMP00000246166, ENST00000557224.5, OTTHUMT00000413668

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      49139199..49153588 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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