Format

Send to:

Choose Destination
    • Showing Current items.

    FOXP3 forkhead box P3 [ Homo sapiens (human) ]

    Gene ID: 50943, updated on 11-Jul-2021

    Summary

    Official Symbol
    FOXP3provided by HGNC
    Official Full Name
    forkhead box P3provided by HGNC
    Primary source
    HGNC:HGNC:6106
    See related
    Ensembl:ENSG00000049768 MIM:300292
    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]
    Expression
    Ubiquitous expression in appendix (RPKM 2.2), lymph node (RPKM 1.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FOXP3 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (49250436..49264932, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49106899..49121172, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene heat shock protein family B (small) member 1 pseudogene 2 Neighboring gene coiled-coil domain containing 22 Neighboring gene CRISPRi-FlowFISH-validated GATA1 regulatory element Neighboring gene FOXP3 regulating long intergenic non-coding RNA Neighboring gene protein phosphatase 1 regulatory subunit 3F

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC141961, MGC141963

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables NF-kappaB binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables NFAT protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone acetyltransferase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone deacetylase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription corepressor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in B cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in T cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in T cell homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in T cell mediated immunity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in establishment of endothelial blood-brain barrier IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myeloid cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of CREB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of T cell cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of T cell cytokine production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of T cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of T-helper 17 cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of activated T cell proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of chronic inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of histone acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of histone deacetylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of interferon-gamma production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of interferon-gamma production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interleukin-10 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of interleukin-17 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interleukin-2 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of interleukin-2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interleukin-4 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of interleukin-5 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of interleukin-6 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of isotype switching to IgE isotypes IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of T cell anergy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of histone acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of immature T cell proliferation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of interleukin-4 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of peripheral T cell tolerance induction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transforming growth factor beta1 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of T cell anergy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of isotype switching to IgG isotypes IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to rapamycin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in tolerance induction to self antigen IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    forkhead box protein P3
    Names
    FOXP3delta7
    immune dysregulation, polyendocrinopathy, enteropathy, X-linked
    immunodeficiency, polyendocrinopathy, enteropathy, X-linked

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001114377.2NP_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, ENST00000376199.7
      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_014009.4NP_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, ENST00000376207.10
      Conserved Domains (2) summary
      pfam00250
      Location:337410
      Forkhead; Forkhead domain
      pfam16159
      Location:193260
      FOXP-CC; FOXP coiled-coil domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      49250436..49264932 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724533.2XP_006724596.2  forkhead box protein P3 isoform X1

      See identical proteins and their annotated locations for XP_006724596.2

      UniProtKB/TrEMBL
      B7ZLG1
      Related
      ENSP00000396415.3, ENST00000455775.7
      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
    2. XM_017029567.1XP_016885056.1  forkhead box protein P3 isoform X2

      Related
      ENSP00000451208.1, ENST00000557224.6
    Support Center