|
Gene id |
50943 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
FOXP3 Gene UCSC Ensembl |
|
Aliases |
AIID, DIETER, IPEX, JM2, PIDX, XPID |
|
Gene name |
forkhead box P3 |
|
Alternate names |
forkhead box protein P3, FOXP3delta7, immune dysregulation, polyendocrinopathy, enteropathy, X-linked, immunodeficiency, polyendocrinopathy, enteropathy, X-linked, scurfin, |
|
Gene location |
Xp11.23 (49264931: 49250435) Exons: 12 NC_000023.11
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
300292 |
|
| Pathway id | Pathway name |
|---|
| hsa04659 | Th17 cell differentiation | | hsa05321 | Inflammatory bowel disease | |
|
| Associated diseases |
References |
| Cancer | GAD: 19264232 |
| Sarcoidosis | GAD: 18496979 |
| Addison's disease | GAD: 16901927 |
| Atopy | GAD: 20028375 |
| Juvenile arthritis | GAD: 17526924 |
| Celiac disease | GAD: 16996248 |
| Diabetes | GAD: 15220219 |
| Female infertility | INFBASE: 23173675 |
| Endometriosis | INFBASE: 23450493 |
| Female infertility | INFBASE: 22541024 |
| Reproductive disorderes | INFBASE: 23173675 |
| Miscarriage | INFBASE: 21314851 |
| Primary unexplained infertility | INFBASE: 16574699 |
| Preeclampsia | INFBASE: 22809231 |
| Chronic prostatitis | INFBASE: 19800664 |
| Defective endometrial receptivity | INFBASE: 25935494 |
| Rhinitis | GAD: 19679154 |
| Cryptorchidism | MIK: 28606200 |
| Male infertility | MIK: 24258212 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 24258212 |
Male infer
tility
|
|
|
|
Male infertility |
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|