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FOXP3 Gene

protein-coding   GIFtS: 57

GC0XM048993
forkhead box P3
(Previous names: immune dysregulation, polyendocrinopathy, enteropathy, X-linked )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: IPEX)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
AIID 1, 2, 5
DIETER 1, 2
IPEX 2, 3, 5
JM2 1, 2
MGC141961 2
MGC141963 2
OTTHUMP00000025832 2
PIDX 1, 2, 5
SCURFIN 1
Scurfin 3
XPID 1, 2, 5
scurfin 2
Descriptions
forkhead box P3 2
immune dysregulation, polyendocrinopathy, enteropathy,
X-linked 1, 2
immunodeficiency, polyendocrinopathy, enteropathy, X-linked 2
External Ids
HGNC: 61061
Entrez Gene: 509432
UniProtKB: Q9BZS13
Ensembl: ENSG000000497687
Search outside databases for aliases for FOXP3 gene

Previous GC identifers: GC0XM047890 GC0XM047348 GC0XM047913 GC0XM048133 GC0XM048863

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for FOXP3:
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]

UniProtKB/Swiss-Prot: FOXP3_HUMAN, Q9BZS1
Function: Probable transcription factor. Plays a critical role in the control of immune response

Gene Wiki entry for FOXP3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the FOXP3 gene  

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

FOXP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM048993:     (about GC identifiers)

Start:
48,994,354 bp from pter
End:
49,008,232 bp from pter
Size:
13,879 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000023.9  NT_079573.3  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: FOXP3_HUMAN, Q9BZS1 (See protein sequence)
Recommended Name: Forkhead box protein P3  
Size: 431 amino acids; 47244 Da
Subcellular location: Nucleus (Potential)
Secondary accessions: A5HJT1 O60827 Q14DD8 Q4ZH51
Alternative splicing: 3 isoforms:  Q9BZS1-1   Q9BZS1-2   Q9BZS1-3   

REFSEQ proteins (2 alternative transcripts): 
NP_001107849.1  NP_054728.2  


ENSEMBL proteins: 
ENSP00000365380 ENSP00000365372 ENSP00000365369 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (FOXP3, FOXP3 (exon 2 deleted))
Human Recombinant Proteins from Abnova (FOXP3)
              OriGene Purified Recombinant Human Protein: FOXP3 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005622 intracellular IEA--
GO:0005634 nucleus IDA11483607 16873067 16920951
GO:0043234 protein complex NAS16903909
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Antibodies for FOXP3: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for FOXP3
R&D Systems Antibodies for FOXP3
Antibodies from Abcam (FOXP3, FOXP3 (exon 2 deleted)), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (FOXP3)
Novus Biologicals Antibodies for FOXP3

Assays for FOXP3: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

5 InterPro domains/families:
 IPR011991 Wing_hlx_DNA_bd
 IPR015880 Znf_C2H2-like
 IPR018122 TF_fork_head_CS
 IPR001766 TF_fork_head
 IPR007087 Znf_C2H2


   GeneDecks  FOXP3 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9BZS1

ProtoNet protein and cluster: Q9BZS1

UniProtKB/Swiss-Prot: FOXP3_HUMAN, Q9BZS1
Similarity: Contains 1 C2H2-type zinc finger
Similarity: Contains 1 fork-head DNA-binding domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (FOXP3)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (FOXP3)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_014009

              Applied Biosystems Silencer® siRNAs for FOXP3

              Sigma-Aldrich siRNA for FOXP3  
                     Sigma-Aldrich shRNA Panels and shRNA for FOXP3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for FOXP3
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001114377
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001114377
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001114377 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_014009

UniProtKB/Swiss-Prot: FOXP3_HUMAN, Q9BZS1
Function: Probable transcription factor. Plays a critical role in the control of immune response

15/21 MGI mutant phenotypes (inferred from 15 alleles(MGI details for Foxp3) (see all 21 ):

behavior/neurologicalcraniofacialdigestive/alimentaryendocrine/exocrine gland
growth/sizehearing/vestibular/earhematopoietic systemhomeostasis/metabolismimmune system
lethality-postnatallethality-prenatal/perinatallife span-post-weaning/agingliver/biliary systemno phenotypic analysis

5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0003700 transcription factor activity NAS11138001
GO:0005515 protein binding IPI16652169
GO:0008270 zinc ion binding IEA--
GO:0016565 general transcriptional repressor activity IDA16920951
GO:0042803 protein homodimerization activity IPI16920951
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


 Gene Network CentralTM Interacting Genes and Proteins Network for  FOXP3 


5/84 Interacting proteins for FOXP3 (ENSP000003653693) via UniProtKB, MINT, and/or STRING (see all 84 )
InteractantInteraction Details
GeneCardExternal ID(s)
IL2ENSP000002267303STRING (score=.999)
IL2RAENSP000003692933STRING (score=.997)
CD4ENSP000000116533STRING (score=.994)
CTLA4ENSP000003039393STRING (score=.994)
IL17AENSP000003441923STRING (score=.992)
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5/17 Gene Ontology (GO) biological process terms (links to tree view) (see all 17 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0002725 negative regulation of T cell cytokine production IDA15466453
GO:0006338 chromatin remodeling NAS16903909
GO:0008285 negative regulation of cell proliferation IDA15652505
GO:0032088 negative regulation of NF-kappaB transcription factor activity IDA16652169
GO:0032689 negative regulation of interferon-gamma production IDA15466453
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for FOXP3
2 Novoseek chemical compound relationships for FOXP3 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
tgf beta1 21.46 1 15249539 (1)
p003 0.00 1 16003241 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (FOXP3)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (FOXP3)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_014009

              Sigma-Aldrich siRNA for FOXP3  
                     Sigma-Aldrich shRNA Panels and shRNA for FOXP3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001114377  NM_014009  

REFSEQ mRNAs for FOXP3 gene (2 alternative transcripts): 

NM_001114377.1   NM_014009.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001114377  NM_014009  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001114377
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001114377
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001114377 

Additional cDNA sequence: 

AF277993.1 AK292052.1 AK299988.1 BC113401.1 BC113403.1 BC143785.1 BC143786.1 DQ010327.1 
EF534714.1 EU855812.1 

3 DOTS entries:

DT.95248575  DT.121322321  DT.100736036 

6 AceView cDNA sequences:

BM832990 AJ005891 NM_014009 AF277993 BP338852 BM918693 

highest scoring ESTs for FOXP3:

AF277993 BM832990 AJ005891 BM918693 BP338852 NM_014009 DA957960 DA959086 DB104925 DQ010327 

Unigene Cluster for FOXP3:

Forkhead box P3
Hs.247700  [show with all ESTs]
Unigene Representative Sequence: NM_014009


GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for FOXP3

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1:                                                                                                            
SP2:                                -                                                                           
SP3:                                -                                                                           
SP4:                                -                                                                           
SP5:                                -     -                                                                     

About this scheme

ECgene alternative splicing isoforms for FOXP3

3 Ensembl transcripts including schematic representations:
ENST00000376207  ENST00000376199  ENST00000376197  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

FOXP3 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for FOXP3

1 / 2 / 3

6 probe-sets matching FOXP3 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

224211_at2, 3 U133-B 1 1.00 1.00 -- -- AF277993 0.80 1.00 0.91 1

221333_at2, 3 U133-A 1 1.00 1.00 -- -- NM_014009 0.60 1.00 0.82 1

221334_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_014009 0.60 1.00 0.82 1

224211_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

221333_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

221334_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.247700
(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for FOXP3 gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
FOXP31   -- forkhead box P3 89.61(n)
90.93(a)
491876  XM_548996.2  XP_548996.2 
chimpanzee
(Pan troglodytes)
FOXP31   -- forkhead box P3 99.2(n)
98.8(a)
740909  XM_001143169.1  XP_001143169.1 
cow
(Bos taurus)
FOXP31   -- forkhead box P3 89.25(n)
90.02(a)
506053  NM_001045933.1  NP_001039398.1 
rat
(Rattus norvegicus)
Foxp31   -- forkhead box P3 84.3(n)
86.48(a)
317382  XM_228771.4  XP_228771.4 
mouse
(Mus musculus)
Foxp31, 5 X (2.10 cM)5
forkhead box P31, 5 85.05(n)1
86.92(a)1
203711  NM_054039.11  NP_473380.11 
 AF2779915  AF2779925  (see all 15)
About this table        Species with no ortholog for FOXP3

ENSEMBL Gene Tree for FOXP3
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for FOXP3 gene
FOXJ32  FOXJ22  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/85 NCBI SNPs in FOXP3 are shown (see all 85 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 26)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr X posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs110912531,2
C,F49008970(-) CCTTCC/TCAGTG 1 -- ng314Minor allele frequency- T:0.18NA EU 184
--
rs22323691,2
H48999196(-) CCAGGC/TGGACC 2 A/V mis1 ese34Minor allele frequency- T:0.00EU EA WA 390
--
rs66088531,2
A49009858(+) CCCTTC/TTGGAA 1 -- ng31 tfbs30--------
--
rs66088511,2
A49009807(+) ACCTTC/TTAAGC 1 -- ng310--------
--
rs22323671,2
C,F49000256(-) CCCAGC/TACCCT 2 S/S syn1 ese33Minor allele frequency- T:0.02NA EU 90
rs37615471,2
A,C,F,H49005405(-) GGGCAA/GTTGTC 1 -- int115Minor allele frequency- G:0.14NA EU EA WA 1082
rs37615491,2
A,C,F,H49004289(-) GCAGCC/TAGTTC 1 -- int17Minor allele frequency- T:0.15EU EA WA NA 510
rs66098591,2
A,C,F,H49006610(+) CCAATG/AAATAG 1 -- int111Minor allele frequency- A:0.08EU EA WA NA 737
rs37615481,2
C,F,H49005185(-) AACTGC/AAGGCC 1 -- int111Minor allele frequency- A:0.22EU EA WA NA 822
rs22808831,2
C,F,H48996072(+) GGGAAT/CGGTGC 1 -- int111Minor allele frequency- C:0.20NA EU EA WA 722
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HapMap Linkage Disequilibrium images for FOXP3 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 300292   disorders: 304790  222100  

UniProtKB/Swiss-Prot: FOXP3_HUMAN, Q9BZS1

  • Defects in FOXP3 are the cause of immunodeficiency polyendocrinopathy, enteropathy,
    X-linked syndrome (IPEX) [MIM:304790]; also known as X-linked autoimmunity-immunodeficiency
    syndrome. IPEX is characterized by neonatal onset insulin-dependent diabetes mellitus, infections,
    secretory diarrhea, trombocytopenia, anemia and eczema. It is usually lethal in infancy
  • 10/27 Novoseek disease relationships for FOXP3 gene (see all 27 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    polyendocrinopathies autoimmune 73.35 5 19122524 (2), 16682278 (1), 15703687 (1)
    autoimmune diseases 68.39 13 16920951 (1), 16216670 (1), 16741580 (1), 15912097 (1) (see all 10)
    autoimmunity 63.06 12 16682278 (1), 16741580 (1), 18317533 (1), 18626575 (1) (see all 9)
    paraparesis tropical spastic 38.03 3 16652169 (1), 18639344 (1)
    hypersensitivity contact 36.38 1 19358983 (1)
    inflammation 34.23 11 16275384 (4), 18451325 (1), 15912097 (1), 18324481 (1) (see all 6)
    biliary cirrhosis primary 27.40 1 16126962 (1)
    colitis 27.34 2 19117830 (1)
    leukemia t-cell 22.16 3 18510697 (2), 15466453 (1)
    lymphopenia 21.66 1 17484867 (1)
    About this table

    GeneTests: FOXP3
    IPEX Syndrome

    Human Gene Mutation Database: FOXP3
    Genetic Association Database: FOXP3
    Human Genome Epidemiology Navigator: FOXP3 (19 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/347 PubMed articles for FOXP3 gene (see all 347 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 50943 HGNC: 6106 AceView: FOXP3 Ensembl:ENSG00000049768 euGenes: HUgn50943
    ECgene: FOXP3 H-InvDB: FOXP3
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for FOXP3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=FOXP3
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for FOXP3:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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