Gene Gene information from NCBI Gene database.
Entrez ID 50943
Gene name Forkhead box P3
Gene symbol FOXP3
Synonyms (NCBI Gene)
AIIDDIETERIPEXJM2PIDXXPID
Chromosome X
Chromosome location Xp11.23
Summary 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.
30
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.
25
miRTarBase ID miRNA Experiments Reference
MIRT001180 hsa-miR-31-5p qRT-PCRLuciferase reporter assayWestern 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 factors information provided by TRRUST V2 database.
12
Transcription factor Regulation Reference
IRF1 Repression 18641303
MSC Activation 19561533
NFATC2 Activation 16517728
NFKB1 Activation 20462637
PGR Repression 18685848
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
138
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300292 6106 ENSG00000049768
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
345
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Centronuclear myopathy Pathogenic rs2519196832 RCV004587624
FOXP3-related disorder Likely pathogenic; Pathogenic rs2519197052, rs2519185876, rs2519192078, rs1057520529, rs1557115532 RCV003402483
RCV003408398
RCV003982673
RCV003897856
RCV003392329
Hydrops fetalis Pathogenic; Likely pathogenic rs28935477, rs2066032846 RCV001290142
RCV001257372
Insulin-dependent diabetes mellitus secretory diarrhea syndrome Pathogenic; Likely pathogenic rs2147949202, rs2147944391, rs2147944159, rs2147947315, rs2147949090, rs2147949777, rs2147948858, rs2147944106, rs797045588, rs782528935, rs2519194123, rs2519194266, rs28935477, rs2147944039, rs122467169
View all (21 more)
RCV001420358
RCV002035836
RCV002022751
RCV001982984
RCV002029367
RCV001987185
RCV002012477
RCV002249996
RCV000194536
RCV000193687
RCV003143293
RCV003226056
RCV000012160
RCV000012161
RCV000012162
RCV000012163
RCV000012164
RCV000012166
RCV000012167
RCV000012168
RCV000012171
RCV000012172
RCV001380270
RCV003468224
RCV003461593
RCV003227748
RCV000504127
RCV001380271
RCV000697871
RCV000690380
RCV000701902
RCV000801492
RCV000825005
RCV000853242
RCV001035787
RCV001224826
RCV001204541
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs190739204 RCV005909434
Diabetes mellitus type 1 Conflicting classifications of pathogenicity; Uncertain significance rs782511378, rs2066088699 RCV000258798
RCV001281015
Malignant tumor of esophagus Benign rs190739204 RCV005909435
Monogenic diabetes Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs1057524899, rs199917616, rs781861708 RCV000445467
RCV000664161
RCV001174438
Associations from Text MiningDisease associations identified through Pubtator
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