Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50943
Gene name Gene Name - the full gene name approved by the HGNC.
Forkhead box P3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FOXP3
Synonyms (NCBI Gene) Gene synonyms aliases
AIID, DIETER, IPEX, JM2, PIDX, XPID
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IPEX
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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 autoim
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs17847095 C>A Pathogenic, benign Coding sequence variant, missense variant
rs28935477 G>A Pathogenic Coding sequence variant, missense variant
rs122467169 A>C Pathogenic Coding sequence variant, missense variant
rs122467170 C>T Pathogenic Coding sequence variant, missense variant
rs122467171 CCT>- Pathogenic Coding sequence variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001180 hsa-miR-31-5p qRT-PCR, Luciferase reporter assay, Western blot 19408243
MIRT001180 hsa-miR-31-5p Luciferase reporter assay 19408243
MIRT001180 hsa-miR-31-5p qRT-PCR 24855107
MIRT001180 hsa-miR-31-5p qRT-PCR 24855107
MIRT731428 rno-miR-125a-5p Luciferase reporter assay 26875774
Transcription factors
Transcription factor Regulation Reference
IRF1 Repression 18641303
MSC Activation 19561533
NFATC2 Activation 16517728
NFKB1 Activation 20462637
PGR Repression 18685848
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300292 6106 ENSG00000049768
Protein
UniProt ID Q9BZS1
Protein name Forkhead box protein P3 (Scurfin) [Cleaved into: Forkhead box protein P3, C-terminally processed; Forkhead box protein P3 41 kDa form]
Protein function Transcriptional regulator which is crucial for the development and inhibitory function of regulatory T-cells (Treg) (PubMed:17377532, PubMed:21458306, PubMed:23947341, PubMed:24354325, PubMed:24722479, PubMed:24835996, PubMed:30513302, PubMed:32
PDB 3QRF , 4WK8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16159 FOXP-CC 193 261 FOXP coiled-coil domain Domain
PF00250 Forkhead 336 417 Forkhead domain Domain
Sequence
MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSS
LNPMPPSQLQLPTLPLVMVAPSGARLGPLPHLQALLQDRPHFMHQLSTVDAHARTPVLQV
HPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEWVSREPALLCTFPNPSAPRKD
STLSAVPQSSYPLLANGVCKWPGCEKVFEEPEDFLKHCQADHLLDEKGRAQCLLQREMVQ
SLEQQLVLEKEKLSAMQAHLA
GKMALTKASSVASSDKGSCCIVAAGSQGPVVPAWSGPRE
APDSLFAVRRHLWGSHGNSTFPEFLHNMDYFKFHNMRPPFTYATLIRWAILEAPEKQRTL
NEIYHWFTRMFAFFRNHPATWKNAIRHNLSLHKCFVRVESEKGAVWTVDELEFRKKR
SQR
PSRCSNPTPGP
Sequence length 431
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Th17 cell differentiation
Inflammatory bowel disease
  RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
RUNX1 regulates transcription of genes involved in WNT signaling
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
17570480
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
17570480
Dermatitis Dermatitis, Occupational rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 29477354
Unknown
Disease term Disease name Evidence References Source
Osteomyelitis Osteomyelitis ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 33057635
Abortion Habitual Inhibit 26345847, 32429643
Abortion Habitual Associate 35767890
Acquired Immunodeficiency Syndrome Associate 33974229
Acute Coronary Syndrome Associate 25740578, 27999237
Acute Coronary Syndrome Inhibit 29259350
Acute Disease Associate 28643491
Acute Lung Injury Associate 31754335
Acute On Chronic Liver Failure Associate 25024610, 34869773
Adenocarcinoma Associate 28831395, 37970475