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FOXP3 forkhead box P3 [ Homo sapiens (human) ]

Gene ID: 50943, updated on 16-Sep-2019

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

Genomic context

See FOXP3 in Genome Data Viewer
Location:
Xp11.23
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (49250436..49264932, 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 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 BioSystems

  • 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...

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
DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
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 proximal promoter sequence-specific DNA 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 IDA
Inferred from Direct Assay
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
 
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 DNA-binding 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 transcription by RNA polymerase II 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 by RNA polymerase II 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 Wnt signaling pathway TAS
Traceable Author Statement
more info
 
regulation of isotype switching to IgG isotypes IEA
Inferred from Electronic Annotation
more info
 
regulation of regulatory T cell differentiation TAS
Traceable Author Statement
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
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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
scurfin

NCBI Reference Sequences (RefSeq)

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, ENST00000376207.9
    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 Annotation Release 109 details...Open this link in a new tab

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
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