FOXP3 forkhead box P3 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:6106
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: mouse all
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Genomic context

Location:: Xp11.23

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (49250438..49264710, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (48662300..48676549, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (49106899..49121172, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FoxP3 expression by retinal pigment epithelial cells: transcription factor with potential relevance for the pathology of age-related macular degeneration.
Title: FoxP3 expression by retinal pigment epithelial cells: transcription factor with potential relevance for the pathology of age-related macular degeneration.
Gene polymorphism associated with FOXP3, CTLA-4 and susceptibility to pre-eclampsia: a meta-analysis and trial sequential analysis.
Title: Gene polymorphism associated with FOXP3, CTLA-4 and susceptibility to pre-eclampsia: a meta-analysis and trial sequential analysis.
Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China-expanding the atypical phenotypes.
Title: Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China-expanding the atypical phenotypes.
Nature vs. nurture: FOXP3, genetics, and tissue environment shape Treg function.
Title: Nature vs. nurture: FOXP3, genetics, and tissue environment shape Treg function.
Elevated Foxp3(+) double-negative T cells are associated with disease progression during HIV infection.
Title: Elevated Foxp3+ double-negative T cells are associated with disease progression during HIV infection.
FOXP3 variants are independently associated with transforming growth factor Beta1 plasma levels in female patients with inflammatory bowel disease.
Title: FOXP3 variants are independently associated with transforming growth factor Β1 plasma levels in female patients with inflammatory bowel disease.
Enriched circulating and tumor-resident TGF-beta(+) regulatory B cells in patients with melanoma promote FOXP3(+) Tregs.
Title: Enriched circulating and tumor-resident TGF-β+ regulatory B cells in patients with melanoma promote FOXP3+ Tregs.
Impact of FOXP3 gene polymorphisms and gene-environment interactions in asthma and atopy in a Brazilian population.
Title: Impact of FOXP3 gene polymorphisms and gene-environment interactions in asthma and atopy in a Brazilian population.
Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The ""Fil Rouge"" of Treg Between IPEX Features and Other Clinical Entities?
Title: Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?
Human forkhead box protein 3 gene variants associated with altered susceptibility to idiopathic recurrent pregnancy loss: A retrospective case-control study.
Title: Human forkhead box protein 3 gene variants associated with altered susceptibility to idiopathic recurrent pregnancy loss: A retrospective case-control study.

Submit: New GeneRIF Correction See all GeneRIFs (1057)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome MedGen: C0342288 OMIM: 304790 GeneReviews: IPEX Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

FOXP3_3345 (e-PCR)
- UniSTS:462200

NoName (e-PCR)
- UniSTS:485823

RH99318 (e-PCR)
- UniSTS:85188

NoName (e-PCR)
- UniSTS:481760

Homology

Homologs of the FOXP3 gene: The FOXP3 gene is conserved in Rhesus monkey, dog, cow, mouse, rat, and frog.
Orthologs from Annotation Pipeline: 323 organisms have orthologs with human gene FOXP3
Orthologs

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 CD4-positive, alpha-beta T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in T cell anergy	IEA Inferred from Electronic Annotation more info
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 histone acetylation	IEA Inferred from Electronic Annotation more info
involved_in immature T cell proliferation in thymus	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in isotype switching to IgE isotypes	IEA Inferred from Electronic Annotation more info
involved_in myeloid cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of CD4-positive, alpha-beta T cell proliferation	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 DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype 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 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 tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of type II interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
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 DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
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 regulatory T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transforming growth factor beta1 production	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
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 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
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in transforming growth factor beta1 production	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

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Preferred Names: forkhead box protein P3

Names: FOXP3delta7; immune dysregulation, polyendocrinopathy, enteropathy, X-linked; immunodeficiency, polyendocrinopathy, enteropathy, X-linked

NCBI Reference Sequences (RefSeq)

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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

NG_007392.1 RefSeqGene

Range

5001..19392

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_62

mRNA and Protein(s)

NM_001114377.2 → NP_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:302 → 374

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:1 → 111

DUF1631; Protein of unknown function (DUF1631)

pfam16159
Location:158 → 225

FOXP-CC; FOXP coiled-coil domain
NM_014009.4 → NP_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

Q4ZH51, Q9BZS1

Related

ENSP00000365380.4, ENST00000376207.10

Conserved Domains (2) summary

pfam00250
Location:337 → 410

Forkhead; Forkhead domain

pfam16159
Location:193 → 260

FOXP-CC; FOXP coiled-coil domain