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 |
|---|---|---|---|
| RS122467174 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS122467175 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1569529715 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1602679037 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1602684496 | Health Risk | Pathogenic | Non-obstructive azoospermia, Non-obstructive azoospermia |
| RS2066088072 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2147944039 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2147944106 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2147944391 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2147947315 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2147949186 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2147949202 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2147949777 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2519186384 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2519196832 | Health Risk | Pathogenic | Centronuclear myopathy, Centronuclear myopathy |
| RS28935477 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Hydrops fetalis, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS797045588 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS886041596 | Health Risk | Pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1057520529 | Health Risk | Pathogenic/Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, FOXP3-related disorder, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS122467170 | Health Risk | Pathogenic/Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1557115532 | Health Risk | Pathogenic/Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, FOXP3-related disorder, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1557116163 | Health Risk | Pathogenic/Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS886044787 | Health Risk | Pathogenic/Likely pathogenic | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS2066044949 | Health Risk | Pathogenic/Likely pathogenic/Likely risk allele | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Neurodevelopmental disorder, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
| RS1557115786 | Health Risk | Pathogenic/Likely risk allele | Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome |