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Search Result

Gene id

50943

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

FOXP3 Gene UCSC Ensembl

Aliases

AIID, DIETER, IPEX, JM2, PIDX, XPID

Gene name

forkhead box P3

Alternate names

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

Gene location

Xp11.23 (49266504: 49250435) Exons: 14 NC_000023.11

Gene summary(Entrez)

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]

OMIM

300292

SNPs

rs2232366

Strand: -   Allele origin: unknown  Allele change: G/T   Mutation type: snp


NC_000023.10   g.49114666C>A
NC_000023.11   g.49258209C>A
NG_007392.1   g.11623G>T
NM_001114377.1   c.210+87G>T
NM_014009.3   c.210+87G>T
NW_004070880.2   g.1497638C>A
XM_005272610.1   c.534+87G>T
XM_005272611.1   c.534+87G>T
XM_005272612.1   c.165+87G>T
XM_005278037.1   c.
rs2232368

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp


NC_000023.10   g.49112283C>T
NC_000023.11   g.49255822C>T
NG_007392.1   g.14006G>A
NM_001114377.1   c.543-20G>A
NM_014009.3   c.648-20G>A
NW_004070880.2   g.1495251C>T
XM_005272610.1   c.972-20G>A
XM_005272611.1   c.867-20G>A
XM_005272612.1   c.498-20G>A
XM_005278037.1   c.
rs2280883

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000023.11   g.49252667T>C
NC_000023.10   g.49109128T>C
NG_007392.1   g.17161A>G
NG_021311.2   g.22203T>C
NM_001114377.1   c.939+459A>G
NM_014009.3   c.1044+459A>G
NW_004070880.2   g.1492096T>C
XM_005278037.1   c.894+459A>G
XM_005272612.1   c.894+459A>G
XM_005272611.1   c.
rs3761548

Strand: -   Allele origin: unknown  Allele change: A/C   Mutation type: snp


NG_007392.1   g.8048A=
NG_007392.1   g.8048A>C
NC_000023.10   g.49118241T>G
NC_000023.11   g.49261784G>T
NM_001114377.1   c.-23+2882A>C
NM_001114377.1   c.-23+2882C>A
NM_014009.3   c.-23+2882A>C
NM_014009.3   c.-23+2882C>A
NW_004070880.2   g.1501213G=
NW_004070880.2   g.150
rs3761549

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000023.11   g.49260888G>A
NC_000023.10   g.49117345G>A
NG_007392.1   g.8944C>T
NM_001114377.1   c.-22-2361C>T
NM_014009.3   c.-22-2361C>T
NW_004070880.2   g.1500317G>A
XM_005272611.1   c.303-2361C>T
XM_005272612.1   c.-1648C>T
XM_005272610.1   c.303-2361C>T
XM_005278037

Protein Summary

Protein general information

Q9BZS1

Name: Forkhead box protein P3 (Scurfin) [Cleaved into: Forkhead box protein P3, C terminally processed; Forkhead box protein P3 41 kDa form]

Length: 431 Mass: 47,244

Sequence

MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSSLNPMPPSQLQLPTLP
LVMVAPSGARLGPLPHLQALLQDRPHFMHQLSTVDAHARTPVLQVHPLESPAMISLTPPTTATGVFSLKARPGLP
PGINVASLEWVSREPALLCTFPNPSAPRKDSTLSAVPQSSYPLLANGVCKWPGCEKVFEEPEDFLKHCQADHLLD
EKGRAQCLLQREMVQSLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASSDKGSCCIVAAGSQGPVVPAWSGPRE
APDSLFAVRRHLWGSHGNSTFPEFLHNMDYFKFHNMRPPFTYATLIRWAILEAPEKQRTLNEIYHWFTRMFAFFR
NHPATWKNAIRHNLSLHKCFVRVESEKGAVWTVDELEFRKKRSQRPSRCSNPTPGP

Structural information

Motifs	Nuclear export(68-76) LXXLL motif.(92-96) Nuclear export(239-248) Nuclear localization(414-417)
Interpro:	IPR001766 IPR032354 IPR030456 IPR011991 IPR013087
Prosite:	PS00658 PS50039 PS00028
Pfam:	PF00250 PF16159
PDB:	3QRF 4WK8
PDBsum:	3QRF 4WK8
DIP:	36584
STRING:	ENSP00000365380;

Other Databases

GeneCards: FOXP3; Malacards: FOXP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IBA	molecular_function
GO:0001047	core promoter binding	ISS	molecular_function
GO:0001782	B cell homeostasis	IEA	biological_process
GO:0001816	cytokine production	IEA	biological_process
GO:0002262	myeloid cell homeostasis	IEA	biological_process
GO:0002362	CD4-positive, CD25-positi ve, alpha-beta regulatory T cell lineage commitmen t	TAS	biological_process
GO:0002456	T cell mediated immunity	IEA	biological_process
GO:0002513	tolerance induction to se lf antigen	IEA	biological_process
GO:0002667	regulation of T cell aner gy	ISS	biological_process
GO:0002669	positive regulation of T cell anergy	IEA	biological_process
GO:0002677	negative regulation of ch ronic inflammatory respon se	IEA	biological_process
GO:0002725	negative regulation of T cell cytokine production	IDA	biological_process
GO:0002725	negative regulation of T cell cytokine production	IMP	biological_process
GO:0002851	positive regulation of pe ripheral T cell tolerance induction	IEA	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IEA	molecular_function
GO:0003714	transcription corepressor activity	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	NAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006338	chromatin remodeling	NAS	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0008285	negative regulation of ce ll proliferation	IDA	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0031064	negative regulation of hi stone deacetylation	IGI	biological_process
GO:0032088	negative regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0032689	negative regulation of in terferon-gamma production	IDA	biological_process
GO:0032689	negative regulation of in terferon-gamma production	IMP	biological_process
GO:0032693	negative regulation of in terleukin-10 production	IDA	biological_process
GO:0032700	negative regulation of in terleukin-17 production	IMP	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IDA	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IDA	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IDA	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IMP	biological_process
GO:0032713	negative regulation of in terleukin-4 production	IDA	biological_process
GO:0032714	negative regulation of in terleukin-5 production	IEA	biological_process
GO:0032715	negative regulation of in terleukin-6 production	IEA	biological_process
GO:0032720	negative regulation of tu mor necrosis factor produ ction	IEA	biological_process
GO:0032753	positive regulation of in terleukin-4 production	IEA	biological_process
GO:0032792	negative regulation of CR EB transcription factor a ctivity	IDA	biological_process
GO:0032831	positive regulation of CD 4-positive, CD25-positive , alpha-beta regulatory T cell differentiation	TAS	biological_process
GO:0032914	positive regulation of tr ansforming growth factor beta1 production	IEA	biological_process
GO:0033092	positive regulation of im mature T cell proliferati on in thymus	IEA	biological_process
GO:0035035	histone acetyltransferase binding	IPI	molecular_function
GO:0035066	positive regulation of hi stone acetylation	IMP	biological_process
GO:0035067	negative regulation of hi stone acetylation	IEA	biological_process
GO:0042036	negative regulation of cy tokine biosynthetic proce ss	IDA	biological_process
GO:0042110	T cell activation	IDA	biological_process
GO:0042130	negative regulation of T cell proliferation	IDA	biological_process
GO:0042130	negative regulation of T cell proliferation	IMP	biological_process
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0042826	histone deacetylase bindi ng	IPI	molecular_function
GO:0043029	T cell homeostasis	NAS	biological_process
GO:0043234	protein complex	NAS	cellular_component
GO:0043433	negative regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IDA	biological_process
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0045077	negative regulation of in terferon-gamma biosynthet ic process	IEA	biological_process
GO:0045085	negative regulation of in terleukin-2 biosynthetic process	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046007	negative regulation of ac tivated T cell proliferat ion	NAS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048294	negative regulation of is otype switching to IgE is otypes	IEA	biological_process
GO:0048302	regulation of isotype swi tching to IgG isotypes	IEA	biological_process
GO:0050710	negative regulation of cy tokine secretion	IDA	biological_process
GO:0050777	negative regulation of im mune response	IDA	biological_process
GO:0050852	T cell receptor signaling pathway	IEA	biological_process
GO:0051059	NF-kappaB binding	NAS	molecular_function
GO:0051525	NFAT protein binding	IPI	molecular_function
GO:2000320	negative regulation of T- helper 17 cell differenti ation	IMP	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IBA	molecular_function
GO:0001047	core promoter binding	IEA	molecular_function
GO:0001047	core promoter binding	ISS	molecular_function
GO:0001782	B cell homeostasis	IEA	biological_process
GO:0001816	cytokine production	IEA	biological_process
GO:0002262	myeloid cell homeostasis	IEA	biological_process
GO:0002361	CD4-positive, CD25-positi ve, alpha-beta regulatory T cell differentiation	IEA	biological_process
GO:0002362	CD4-positive, CD25-positi ve, alpha-beta regulatory T cell lineage commitmen t	TAS	biological_process
GO:0002456	T cell mediated immunity	IEA	biological_process
GO:0002507	tolerance induction	IEA	biological_process
GO:0002513	tolerance induction to se lf antigen	IEA	biological_process
GO:0002637	regulation of immunoglobu lin production	IEA	biological_process
GO:0002666	positive regulation of T cell tolerance induction	IEA	biological_process
GO:0002667	regulation of T cell aner gy	IEA	biological_process
GO:0002667	regulation of T cell aner gy	ISS	biological_process
GO:0002669	positive regulation of T cell anergy	IEA	biological_process
GO:0002677	negative regulation of ch ronic inflammatory respon se	IEA	biological_process
GO:0002725	negative regulation of T cell cytokine production	IDA	biological_process
GO:0002725	negative regulation of T cell cytokine production	IMP	biological_process
GO:0002851	positive regulation of pe ripheral T cell tolerance induction	IEA	biological_process
GO:0003676	nucleic acid binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IEA	molecular_function
GO:0003714	transcription corepressor activity	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005622	intracellular	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	NAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006338	chromatin remodeling	NAS	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IEA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IDA	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0031064	negative regulation of hi stone deacetylation	IGI	biological_process
GO:0032088	negative regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0032689	negative regulation of in terferon-gamma production	IEA	biological_process
GO:0032689	negative regulation of in terferon-gamma production	IDA	biological_process
GO:0032689	negative regulation of in terferon-gamma production	IMP	biological_process
GO:0032693	negative regulation of in terleukin-10 production	IEA	biological_process
GO:0032693	negative regulation of in terleukin-10 production	IDA	biological_process
GO:0032700	negative regulation of in terleukin-17 production	IEA	biological_process
GO:0032700	negative regulation of in terleukin-17 production	IMP	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IEA	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IDA	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IDA	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IDA	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IMP	biological_process
GO:0032713	negative regulation of in terleukin-4 production	IEA	biological_process
GO:0032713	negative regulation of in terleukin-4 production	IDA	biological_process
GO:0032714	negative regulation of in terleukin-5 production	IEA	biological_process
GO:0032715	negative regulation of in terleukin-6 production	IEA	biological_process
GO:0032720	negative regulation of tu mor necrosis factor produ ction	IEA	biological_process
GO:0032753	positive regulation of in terleukin-4 production	IEA	biological_process
GO:0032792	negative regulation of CR EB transcription factor a ctivity	IDA	biological_process
GO:0032831	positive regulation of CD 4-positive, CD25-positive , alpha-beta regulatory T cell differentiation	IEA	biological_process
GO:0032831	positive regulation of CD 4-positive, CD25-positive , alpha-beta regulatory T cell differentiation	TAS	biological_process
GO:0032914	positive regulation of tr ansforming growth factor beta1 production	IEA	biological_process
GO:0033092	positive regulation of im mature T cell proliferati on in thymus	IEA	biological_process
GO:0035035	histone acetyltransferase binding	IPI	molecular_function
GO:0035066	positive regulation of hi stone acetylation	IEA	biological_process
GO:0035066	positive regulation of hi stone acetylation	IMP	biological_process
GO:0035067	negative regulation of hi stone acetylation	IEA	biological_process
GO:0042036	negative regulation of cy tokine biosynthetic proce ss	IDA	biological_process
GO:0042110	T cell activation	IEA	biological_process
GO:0042110	T cell activation	IDA	biological_process
GO:0042130	negative regulation of T cell proliferation	IEA	biological_process
GO:0042130	negative regulation of T cell proliferation	IDA	biological_process
GO:0042130	negative regulation of T cell proliferation	IMP	biological_process
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0042826	histone deacetylase bindi ng	IPI	molecular_function
GO:0043029	T cell homeostasis	NAS	biological_process
GO:0043234	protein complex	NAS	cellular_component
GO:0043433	negative regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IDA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0045066	regulatory T cell differe ntiation	IEA	biological_process
GO:0045077	negative regulation of in terferon-gamma biosynthet ic process	IEA	biological_process
GO:0045085	negative regulation of in terleukin-2 biosynthetic process	IEA	biological_process
GO:0045085	negative regulation of in terleukin-2 biosynthetic process	IMP	biological_process
GO:0045591	positive regulation of re gulatory T cell different iation	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046007	negative regulation of ac tivated T cell proliferat ion	NAS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048294	negative regulation of is otype switching to IgE is otypes	IEA	biological_process
GO:0048302	regulation of isotype swi tching to IgG isotypes	IEA	biological_process
GO:0050672	negative regulation of ly mphocyte proliferation	IEA	biological_process
GO:0050710	negative regulation of cy tokine secretion	IDA	biological_process
GO:0050728	negative regulation of in flammatory response	IEA	biological_process
GO:0050777	negative regulation of im mune response	IDA	biological_process
GO:0050852	T cell receptor signaling pathway	IEA	biological_process
GO:0051059	NF-kappaB binding	NAS	molecular_function
GO:0051525	NFAT protein binding	IPI	molecular_function
GO:2000320	negative regulation of T- helper 17 cell differenti ation	IMP	biological_process
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IBA	molecular_function
GO:0001047	core promoter binding	ISS	molecular_function
GO:0002362	CD4-positive, CD25-positi ve, alpha-beta regulatory T cell lineage commitmen t	TAS	biological_process
GO:0002667	regulation of T cell aner gy	ISS	biological_process
GO:0002725	negative regulation of T cell cytokine production	IDA	biological_process
GO:0002725	negative regulation of T cell cytokine production	IMP	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	NAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006338	chromatin remodeling	NAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0008285	negative regulation of ce ll proliferation	IDA	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0031064	negative regulation of hi stone deacetylation	IGI	biological_process
GO:0032088	negative regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0032689	negative regulation of in terferon-gamma production	IDA	biological_process
GO:0032689	negative regulation of in terferon-gamma production	IMP	biological_process
GO:0032693	negative regulation of in terleukin-10 production	IDA	biological_process
GO:0032700	negative regulation of in terleukin-17 production	IMP	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IDA	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IDA	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IDA	biological_process
GO:0032703	negative regulation of in terleukin-2 production	IMP	biological_process
GO:0032713	negative regulation of in terleukin-4 production	IDA	biological_process
GO:0032792	negative regulation of CR EB transcription factor a ctivity	IDA	biological_process
GO:0032831	positive regulation of CD 4-positive, CD25-positive , alpha-beta regulatory T cell differentiation	TAS	biological_process
GO:0035035	histone acetyltransferase binding	IPI	molecular_function
GO:0035066	positive regulation of hi stone acetylation	IMP	biological_process
GO:0042036	negative regulation of cy tokine biosynthetic proce ss	IDA	biological_process
GO:0042110	T cell activation	IDA	biological_process
GO:0042130	negative regulation of T cell proliferation	IDA	biological_process
GO:0042130	negative regulation of T cell proliferation	IMP	biological_process
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0042826	histone deacetylase bindi ng	IPI	molecular_function
GO:0043029	T cell homeostasis	NAS	biological_process
GO:0043234	protein complex	NAS	cellular_component
GO:0043433	negative regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IDA	biological_process
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0045085	negative regulation of in terleukin-2 biosynthetic process	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0046007	negative regulation of ac tivated T cell proliferat ion	NAS	biological_process
GO:0050710	negative regulation of cy tokine secretion	IDA	biological_process
GO:0050777	negative regulation of im mune response	IDA	biological_process
GO:0051059	NF-kappaB binding	NAS	molecular_function
GO:0051525	NFAT protein binding	IPI	molecular_function
GO:2000320	negative regulation of T- helper 17 cell differenti ation	IMP	biological_process

KEGG pathways

hsa04659 Th17 cell differentiation
hsa05321 Inflammatory bowel disease

Diseases

Associated diseases	References
Allergic rhinitis	PMID: 19679154
Atopy	PMID: 20028375
Cancer	PMID: 19264232
Celiac disease	PMID: 16996248
Chronic prostatitis	PMID: 19800664
Defective endometrial receptivity	PMID: 25935494
Diabetes	PMID: 15220219, KEGG: H00512
Endometriosis	PMID: 22341374
Graves disease	PMID: 16901927
Juvenile arthritis	PMID: 17526924
Miscarriage	PMID: 21314851
Preeclampsia	PMID: 22809231
Primary unexplained infertility	PMID: 16574699
Female infertility	INFBASE22541024
Endometriosis associated infertility	INFBASE22341374
Female infertility	INFBASE21481380
Endometriosis	INFBASE21481380
Reproductive failure	PMID: 23173675
Sarcoidosis	PMID: 18496979
Thyroid autoimmunity	PMID: 17418529

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22341374	Endometrio sis	FOXP3 C-2383T/rs3761549, FCRL3 C-169T/rs7528684		357 (188 infert ile women, 169 controls)	Female infertility		Show abstract
23450493	Endometrio sis	FOXP3 (rs2280883, rs3761548 and rs3761549)	Chinese Han	672 (314 patien ts with endomet riosis, 358 hea lthy controls)		FOXP3	Show abstract
22541024	Endometrio sis			47 (Mild endome triosis (n?=?7) , advanced endo metriosis (n?=? 20), fertile wo men without end ometriosis (n?= ?20))	Female infertility		Show abstract
21481380	Endometrio sis	rs3761549, rs2280883 and rs2232368 FOXP3	Brazili an	419 (177 infert ile women with endometriosis, 71 women with i diopathic infer tility, and 171 fertile women as controls)	Female infertility		Show abstract