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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Centronuclear myopathy Pathogenic rs2519196832 RCV004587624
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FOXP3-related disorder Likely pathogenic; Pathogenic rs2519197052, rs2519185876, rs2519192078, rs1057520529, rs1557115532 RCV003402483
RCV003408398
RCV003982673
RCV003897856
RCV003392329
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hydrops fetalis Pathogenic; Likely pathogenic rs28935477, rs2066032846 RCV001290142
RCV001257372
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (32 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 19394278, 23432692, 25468195
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis LHGDN 19108017
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 29419888
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 23299803, 23566804, 25740578, 26931655, 31327269
★☆☆☆☆
Found in Text Mining only
Acute intermittent porphyria Intermittent Porphyria BEFREE 19752775, 21113630
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 27016413, 28892380
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease BEFREE 16252254
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18533240
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30405752
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 31513797
★☆☆☆☆
Found in Text Mining only