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Aliases & Descriptions for FOXP3
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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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
Search outside databases for aliases for FOXP3 genePrevious GC identifers: GC0XM047890 GC0XM047348 GC0XM047913 GC0XM048133 GC0XM048863
Summaries for FOXP3 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for FOXP3 : The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptionalregulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy,enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiencysyndrome. Alternatively spliced transcript variants encoding different isoforms have beenidentified. [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
Genomic Location 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
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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 Proteins for FOXP3
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 Q4ZH51Alternative 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               OriGene Purified Recombinant Human Protein: FOXP3 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for FOXP3: Assays for FOXP3:
Protein
Domains/ Families for FOXP3(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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 fingerSimilarity : Contains 1 fork-head DNA-binding domain
Gene Function for FOXP3
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               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                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
):5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9
):
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Pathways & Interactions for FOXP3
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for FOXP3 5/84 Interacting proteins for FOXP3 (ENSP00000365369 3 ) via UniProtKB, MINT, and/or STRING (see all 84
)About this table 5/17 Gene Ontology (GO) biological process terms (links to tree view) (see all 17
):
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Drugs & Compounds for FOXP3 (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 )
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Browse Tocris compounds for FOXP3 2 Novoseek chemical compound relationships for FOXP3 gene
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Transcripts for FOXP3(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
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shRNA from
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               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
Expression for FOXP3
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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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 Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.247700
Orthologs for FOXP3
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for FOXP3 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for FOXP3 ENSEMBL Gene Tree for FOXP3 Paralogs for FOXP3 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for FOXP3 gene FOXJ3 2 FOXJ2 2
SNPs/Variants for FOXP3 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for FOXP3 (up to first 250kb)
Disorders & Mutations for FOXP3
(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 .)
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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-immunodeficiencysyndrome. 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)
Medical News for FOXP3 (Possibly Related Articles in
Doctor's Guide )
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Publications for FOXP3 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/347 PubMed articles for FOXP3 gene (see all 347
): Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. (PubMed id 11138001) 2, 3, 4 Brunkow M.E....Ramsdell F. (2001) No association between variation of the FOXP3 gene and common type 1 diabetes in the Sardinian population. (PubMed id 15220219) 1, 3, 6 Zavattari P....Cucca F. (2004) The DNA sequence of the human X chromosome. (PubMed id 15772651) 3, 4 Ross M.T.... Bentley D.R. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes. (PubMed id 12750858) 3, 6 Bassuny W.M....Hara T. (2003) X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. (PubMed id 11137992) 3, 4 Wildin R.S....Brunkow M.E. (2001) Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). (PubMed id 11768393) 3, 4 Kobayashi I....Kobayashi K. (2001) The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. (PubMed id 11137993) 3, 4 Bennett C.L.... Ochs H.D. (2001) X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. (PubMed id 10677306) 2, 3 Bennett C.L....Chance P.F. (2000) JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. (PubMed id 11120765) 3, 4 Chatila T.A.... Bowcock A.M. (2000)
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Genome Databases showing FOXP3
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AceView ,
euGenes ,
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miRBase ,
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and/or
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--
Specialized Databases showing FOXP3 (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
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-- Services for FOXP3 (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
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