FOXP3 Chromosome X
Forkhead box P3
Upload your DNA to see your personal genotypes for variants in FOXP3.
What This Gene Does
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 autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000049768
Associated Conditions (10)
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Inborn genetic diseases
Monogenic diabetes
Diabetes mellitus type 1
Hydrops fetalis
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
FOXP3-related disorder
Non-obstructive azoospermia
Centronuclear myopathy
Neurodevelopmental disorder
Key Variants
RS122467173
Conflicting classifications of pathogenicity
Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Health Risk
RS1373580534
Conflicting classifications of pathogenicity
Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Inborn genetic diseases, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Health Risk
RS1382549860
Conflicting classifications of pathogenicity
Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Health Risk
RS140222626
Conflicting classifications of pathogenicity
Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Health Risk
RS1424687079
Conflicting classifications of pathogenicity
Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Health Risk
RS1602682433
Conflicting classifications of pathogenicity
Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Health Risk
RS1602693008
Conflicting classifications of pathogenicity
Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Health Risk
RS200554980
Conflicting classifications of pathogenicity
Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Health Risk
RS200928046
Conflicting classifications of pathogenicity
Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Health Risk
RS2066089464
Conflicting classifications of pathogenicity
Inborn genetic diseases, Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Inborn genetic diseases
Health Risk
RS2232367
Conflicting classifications of pathogenicity
Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Health Risk
RS2519185601
Conflicting classifications of pathogenicity
Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Health Risk
All Variants (75)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS122467173 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1373580534 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Inborn genetic diseases, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1382549860 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS140222626 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1424687079 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1602682433 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1602693008 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS200554980 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS200928046 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2066089464 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Inborn genetic diseases |
| RS2232367 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2519185601 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2519186420 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS367860281 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS373767482 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS55711326 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS74162067 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Inborn genetic diseases, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS781805416 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Inborn genetic diseases |
| RS781861708 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Monogenic diabetes, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS781881326 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS782085584 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS782088695 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS782178764 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Inborn genetic diseases, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS782511378 | Health Risk | Conflicting classifications of pathogenicity | Diabetes mellitus type 1, Diabetes mellitus type 1 |
| RS782572328 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS782640594 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS782731811 | Health Risk | Conflicting classifications of pathogenicity | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1057518281 | Health Risk | Likely pathogenic | — |
| RS1064795069 | Health Risk | Likely pathogenic | — |
| RS1569529565 | Health Risk | Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1602679681 | Health Risk | Likely pathogenic | — |
| RS1602684221 | Health Risk | Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2066030589 | Health Risk | Likely pathogenic | — |
| RS2066032846 | Health Risk | Likely pathogenic | Hydrops fetalis, Hydrops fetalis |
| RS2066083033 | Health Risk | Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2147944159 | Health Risk | Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2147947553 | Health Risk | Likely pathogenic | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |
| RS2147948858 | Health Risk | Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2147949090 | Health Risk | Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2519185876 | Health Risk | Likely pathogenic | FOXP3-related disorder, FOXP3-related disorder |
| RS2519192078 | Health Risk | Likely pathogenic | FOXP3-related disorder, FOXP3-related disorder |
| RS2519194123 | Health Risk | Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2519194266 | Health Risk | Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2519197052 | Health Risk | Likely pathogenic | FOXP3-related disorder, FOXP3-related disorder |
| RS782377881 | Health Risk | Likely pathogenic | — |
| RS782528935 | Health Risk | Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1057517736 | Health Risk | Pathogenic | — |
| RS122467169 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS122467171 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS122467172 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |