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FOXP3 forkhead box P3 [ Homo sapiens (human) ]

Gene ID: 50943, updated on 21-Sep-2014
Official Symbol
FOXP3provided by HGNC
Official Full Name
forkhead box P3provided by HGNC
Primary source
HGNC:HGNC:6106
Locus tag
JM2
See related
Ensembl:ENSG00000049768; HPRD:02242; 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]
See FOXP3 in Epigenomics, MapViewer
Location:
Xp11.23
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (49250436..49265738, 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 channel, voltage-dependent, L type, alpha 1F subunit Neighboring gene heat shock 27kDa protein 1 pseudogene 2 Neighboring gene coiled-coil domain containing 22 Neighboring gene protein phosphatase 1, regulatory subunit 3F Neighboring gene uncharacterized LOC102724400

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

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 distal enhancer sequence-specific DNA binding transcription factor activity IEA
Inferred from Electronic Annotation
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 
sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
transcription corepressor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
B cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
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 proliferation IDA
Inferred from Direct Assay
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 interleukin-10 production IDA
Inferred from Direct Assay
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-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 tumor necrosis factor production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
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 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
 
tolerance induction to self antigen IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
protein complex NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
forkhead box protein P3
Names
forkhead box protein P3
scurfin
FOXP3delta7
immunodeficiency, polyendocrinopathy, enteropathy, X-linked
immune dysregulation, polyendocrinopathy, enteropathy, X-linked

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 

    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 proteins identical to 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, ENST00000376199
    Conserved Domains (1) 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 ...
  2. NM_014009.3NP_054728.2  forkhead box protein P3 isoform a

    See proteins identical to 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, OTTHUMP00000025832, ENST00000376207, OTTHUMT00000060814
    Conserved Domains (1) 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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    49250436..49265738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272611.2XP_005272668.2  

    Conserved Domains (1) 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 ...
  2. XM_005272610.2XP_005272667.2  

    Conserved Domains (1) summary
    cd00059
    Location:445517
    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 ...
  3. XM_006724533.1XP_006724596.1  

    Conserved Domains (1) summary
    cd00059
    Location:468540
    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 ...

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    46763332..46777541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

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