FOXP3
Chr XXLRforkhead box P3
Also known as: AIID, DIETER, IPEX, JM2, PIDX, XPID
FOXP3 encodes a transcriptional regulator that is crucial for the development and suppressive function of regulatory T-cells, maintaining immune system homeostasis by controlling T-cell activation and cytokine production. Mutations cause X-linked immunodysregulation, polyendocrinopathy, and enteropathy (IPEX syndrome), which typically presents in infancy with severe autoimmunity affecting multiple organ systems including the gastrointestinal tract and endocrine glands. The gene shows X-linked recessive inheritance and is highly constrained against loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FOXP3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Early Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories
RECRUITINGHypofractionated, Dose Escalation Radiotherapy for High Risk Adenocarcinoma of the Prostate
ACTIVE NOT RECRUITINGNeoadjuvant Pembrolizumab + Decitabine Followed by Std Neoadj Chemo for Locally Advanced HER2- Breast Ca
ACTIVE NOT RECRUITINGResidual Disease MEMory in PSOriasis Skin During EnstiLAR® and Narrow-band Ultraviolet B Therapy: The MEMPSOLAR Study
ACTIVE NOT RECRUITINGClinical Phase II/III Trial of Ustekinumab to Treat Type 1 Diabetes (UST1D2)
ACTIVE NOT RECRUITINGCharacterization of Autoreactive Regulatory and Conventional CD4 T Cells in Recent Onset Type 1 Diabetes and Control Individuals
RECRUITINGAn Open-Label Phase II Study of Nivolumab or Nivolumab/Ipilimumab in Adult Participants With Progessive/ Recurrent Meningioma
ACTIVE NOT RECRUITINGPredicting Response In Cervical Intraepithelial Neoplasia to Topical Imiquimod Treatment
RECRUITINGCD4^LVFOXP3 in Participants With IPEX
RECRUITINGCirculating Immune Markers for Prognostic Evaluation in Postoperative Lung Cancer Patients
NOT YET RECRUITINGDose Escalation Study of Immunomodulatory Nanoparticles
ACTIVE NOT RECRUITINGESAN II - Energy Sensing in Depression
RECRUITINGExternal Resources
Links to major genomics databases and tools