ENSG00000049768


Homo sapiens

Features
Gene ID: ENSG00000049768
  
Biological name :FOXP3
  
Synonyms : forkhead box P3 / FOXP3 / Q9BZS1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p11.23
Gene start: 49250436
Gene end: 49264826
  
Corresponding Affymetrix probe sets: 221333_at (Human Genome U133 Plus 2.0 Array)   221334_s_at (Human Genome U133 Plus 2.0 Array)   224211_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000396415
Ensembl peptide - ENSP00000365380
Ensembl peptide - ENSP00000428952
Ensembl peptide - ENSP00000451208
Ensembl peptide - ENSP00000365369
Ensembl peptide - ENSP00000365372
NCBI entrez gene - 50943     See in Manteia.
OMIM - 300292
RefSeq - XM_017029567
RefSeq - NM_014009
RefSeq - XM_006724533
RefSeq - XM_011543916
RefSeq - XM_017029565
RefSeq - XM_017029566
RefSeq - NM_001114377
RefSeq Peptide - NP_001107849
RefSeq Peptide - NP_054728
swissprot - B7ZLG1
swissprot - Q9BZS1
swissprot - A0A0C4DFW6
Ensembl - ENSG00000049768
  
Related genetic diseases (OMIM): 222100 - {Diabetes mellitus, type I, susceptibility to}, 222100
  304790 - Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 foxp3aENSDARG00000055750Danio rerio
 foxp3bENSDARG00000078279Danio rerio
 Foxp3ENSMUSG00000039521Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FOXP4 / Q8IVH2 / forkhead box P4ENSG0000013716638
FOXP2 / O15409 / forkhead box P2ENSG0000012857338
FOXP1 / Q9H334 / forkhead box P1ENSG0000011486136
FOXG1 / P55316 / forkhead box G1ENSG0000017616513
FOXF2 / Q12947 / forkhead box F2ENSG0000013727313
FOXD2 / O60548 / forkhead box D2ENSG0000018656412
FOXE3 / Q13461 / forkhead box E3ENSG0000018679012
Q9NU39 / FOXD4L1 / forkhead box D4 like 1ENSG0000018449211
Q8WXT5 / FOXD4L4 / forkhead box D4 like 4ENSG0000018465911
Q5VV16 / FOXD4L5 / forkhead box D4 like 5ENSG0000020477911
FOXQ1 / Q9C009 / forkhead box Q1ENSG0000016437911
FOXD3 / Q9UJU5 / forkhead box D3ENSG0000018714011
FOXD4 / Q12950 / forkhead box D4ENSG0000017012211
Q3SYB3 / FOXD4L6 / forkhead box D4 like 6ENSG0000027351411
Q6VB84 / FOXD4L3 / forkhead box D4 like 3ENSG0000018755911
FOXF1 / Q12946 / forkhead box F1ENSG0000010324110
FOXD1 / Q16676 / forkhead box D1ENSG0000025149310
FOXE1 / O00358 / forkhead box E1ENSG0000017891910
AC187653.1ENSG000002487679
FOXH1 / O75593 / forkhead box H1ENSG000001609738


Protein motifs (from Interpro)
Interpro ID Name
 IPR001766  Fork head domain
 IPR013087  Zinc finger C2H2-type
 IPR030456  Fork head domain conserved site 2
 IPR032354  FOXP, coiled-coil domain
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001782 B cell homeostasis IEA
 biological_processGO:0001816 cytokine production IEA
 biological_processGO:0002262 myeloid cell homeostasis IEA
 biological_processGO:0002361 CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation IMP
 biological_processGO:0002362 CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment TAS
 biological_processGO:0002456 T cell mediated immunity IEA
 biological_processGO:0002507 tolerance induction IEA
 biological_processGO:0002513 tolerance induction to self antigen IEA
 biological_processGO:0002637 regulation of immunoglobulin production IEA
 biological_processGO:0002666 positive regulation of T cell tolerance induction IEA
 biological_processGO:0002667 regulation of T cell anergy ISS
 biological_processGO:0002669 positive regulation of T cell anergy IEA
 biological_processGO:0002677 negative regulation of chronic inflammatory response IEA
 biological_processGO:0002725 negative regulation of T cell cytokine production IMP
 biological_processGO:0002851 positive regulation of peripheral T cell tolerance induction IEA
 biological_processGO:0006338 chromatin remodeling NAS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0008285 negative regulation of cell proliferation IDA
 biological_processGO:0009615 response to virus IEP
 biological_processGO:0009653 anatomical structure morphogenesis IBA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0030111 regulation of Wnt signaling pathway TAS
 biological_processGO:0031064 negative regulation of histone deacetylation IGI
 biological_processGO:0032088 negative regulation of NF-kappaB transcription factor activity IDA
 biological_processGO:0032689 negative regulation of interferon-gamma production IMP
 biological_processGO:0032693 negative regulation of interleukin-10 production IDA
 biological_processGO:0032700 negative regulation of interleukin-17 production IMP
 biological_processGO:0032703 negative regulation of interleukin-2 production IMP
 biological_processGO:0032713 negative regulation of interleukin-4 production IDA
 biological_processGO:0032714 negative regulation of interleukin-5 production IEA
 biological_processGO:0032715 negative regulation of interleukin-6 production IEA
 biological_processGO:0032720 negative regulation of tumor necrosis factor production IEA
 biological_processGO:0032753 positive regulation of interleukin-4 production IEA
 biological_processGO:0032792 negative regulation of CREB transcription factor activity IDA
 biological_processGO:0032831 positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation TAS
 biological_processGO:0032914 positive regulation of transforming growth factor beta1 production IEA
 biological_processGO:0033092 positive regulation of immature T cell proliferation in thymus IEA
 biological_processGO:0035066 positive regulation of histone acetylation IMP
 biological_processGO:0035067 negative regulation of histone acetylation IEA
 biological_processGO:0042036 negative regulation of cytokine biosynthetic process IDA
 biological_processGO:0042110 T cell activation IDA
 biological_processGO:0042130 negative regulation of T cell proliferation IMP
 biological_processGO:0043029 T cell homeostasis NAS
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IDA
 biological_processGO:0045066 regulatory T cell differentiation IEA
 biological_processGO:0045077 negative regulation of interferon-gamma biosynthetic process IEA
 biological_processGO:0045085 negative regulation of interleukin-2 biosynthetic process IMP
 biological_processGO:0045589 regulation of regulatory T cell differentiation TAS
 biological_processGO:0045591 positive regulation of regulatory T cell differentiation IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0046007 negative regulation of activated T cell proliferation NAS
 biological_processGO:0048294 negative regulation of isotype switching to IgE isotypes IEA
 biological_processGO:0048302 regulation of isotype switching to IgG isotypes IEA
 biological_processGO:0050672 negative regulation of lymphocyte proliferation IEA
 biological_processGO:0050710 negative regulation of cytokine secretion IDA
 biological_processGO:0050728 negative regulation of inflammatory response IEA
 biological_processGO:0050777 negative regulation of immune response IDA
 biological_processGO:0050852 T cell receptor signaling pathway IEA
 biological_processGO:2000320 negative regulation of T-helper 17 cell differentiation IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0032991 protein-containing complex NAS
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
 molecular_functionGO:0001047 core promoter binding ISS
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA
 molecular_functionGO:0003714 transcription corepressor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0035035 histone acetyltransferase binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0042826 histone deacetylase binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051059 NF-kappaB binding NAS
 molecular_functionGO:0051525 NFAT protein binding IPI


Pathways (from Reactome)
Pathway description
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
RUNX1 regulates transcription of genes involved in WNT signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000819 Diabetes mellitus 
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 HP:0000821 Hypothyroidism 
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 HP:0000964 Eczema "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001873 Thrombocytopenia 
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 HP:0001880 Eosinophilia "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken]
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 HP:0001890 Autoimmune hemolytic anemia 
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 HP:0002014 Diarrhea 
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 HP:0002595 Ileus "Acute obstruction of the intestines preventing passage of the contents of the intestines." [HPO:sdoelken]
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 HP:0002716 Lymphadenopathy 
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 HP:0002958 Immune dysregulation 
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 HP:0003828 Variable expressivity 
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 HP:0011473 Villous atrophy "The enteric villi are atrophic or absent." [HPO:probinson]
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 HP:0100651 Diabetes mellitus Type I 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000067955 CBFB / Q13951 / core-binding factor beta subunit  / reaction / complex
 ENSG00000159216 RUNX1 / Q01196 / runt related transcription factor 1  / reaction / complex
 ENSG00000101096 NFATC2 / Q13469 / nuclear factor of activated T cells 2  / complex / reaction






 

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