| Tbio | Transcription factor RFX3 |
Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left-right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity). Together with RFX6, participates in the differentiation of 4 of the 5 islet cell types during endocrine pancreas development, with the exception of pancreatic PP (polypeptide-producing) cells. Regulates transcription by forming a heterodimer with another RFX protein and binding to the X-box in the promoter of target genes (PubMed:20148032). Represses transcription of MAP1A in non-neuronal cells but not in neuronal cells (PubMed:12411430).
This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Arsenic Poisoning | 62 | 0.0 | 0.0 |
| Skin Diseases | 71 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Dermatologic disorders | 93 |
| Disease | Target Count | P-value |
|---|---|---|
| tuberculosis and treatment for 3 months | 179 | 1.2e-05 |
| osteosarcoma | 7950 | 2.4e-04 |
| atypical teratoid / rhabdoid tumor | 5112 | 2.8e-04 |
| Breast cancer | 3578 | 5.7e-04 |
| group 3 medulloblastoma | 4104 | 1.2e-02 |
| chronic rhinosinusitis | 512 | 1.5e-02 |
| intraductal papillary-mucinous adenoma (IPMA) | 2955 | 1.5e-02 |
| ependymoma | 4679 | 2.8e-02 |
| primitive neuroectodermal tumor | 3035 | 2.8e-02 |
| cystic fibrosis and chronic rhinosinusitis | 214 | 3.5e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Chordoid glioma | 4 | 3.978 | 2.0 |
| Ciliopathy | 71 | 3.416 | 1.7 |
| Pineoblastoma | 6 | 3.373 | 1.7 |
| Pancreatic agenesis | 17 | 3.283 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| atypical teratoid / rhabdoid tumor | 1.600 | 2.8e-04 |
| Breast cancer | -1.100 | 5.7e-04 |
| chronic rhinosinusitis | -1.907 | 1.5e-02 |
| cystic fibrosis and chronic rhinosinusit... | -1.552 | 3.5e-02 |
| ependymoma | 1.500 | 2.8e-02 |
| group 3 medulloblastoma | 1.200 | 1.2e-02 |
| intraductal papillary-mucinous adenoma (... | 1.800 | 1.5e-02 |
| osteosarcoma | -1.974 | 2.4e-04 |
| primitive neuroectodermal tumor | 1.100 | 2.8e-02 |
| tuberculosis and treatment for 3 months | 1.200 | 1.2e-05 |
MQTSETGSDTGSTVTLQTSVASQAAVPTQVVQQVPVQQQVQQVQTVQQVQHVYPAQVQYVEGSDTVYTNG 1 - 70 AIRTTTYPYTETQMYSQNTGGNYFDTQGSSAQVTTVVSSHSMVGTGGIQMGVTGGQLISSSGGTYLIGNS 71 - 140 MENSGHSVTHTTRASPATIEMAIETLQKSDGLSTHRSSLLNSHLQWLLDNYETAEGVSLPRSTLYNHYLR 141 - 210 HCQEHKLDPVNAASFGKLIRSIFMGLRTRRLGTRGNSKYHYYGIRVKPDSPLNRLQEDMQYMAMRQQPMQ 211 - 280 QKQRYKPMQKVDGVADGFTGSGQQTGTSVEQTVIAQSQHHQQFLDASRALPEFGEVEISSLPDGTTFEDI 281 - 350 KSLQSLYREHCEAILDVVVNLQFSLIEKLWQTFWRYSPSTPTDGTTITESSNLSEIESRLPKAKLITLCK 351 - 420 HESILKWMCNCDHGMYQALVEILIPDVLRPIPSALTQAIRNFAKSLEGWLSNAMNNIPQRMIQTKVAAVS 421 - 490 AFAQTLRRYTSLNHLAQAARAVLQNTSQINQMLSDLNRVDFANVQEQASWVCQCDDNMVQRLETDFKMTL 491 - 560 QQQSTLEQWAAWLDNVMMQALKPYEGRPSFPKAARQFLLKWSFYSSMVIRDLTLRSAASFGSFHLIRLLY 561 - 630 DEYMFYLVEHRVAQATGETPIAVMGEFGDLNAVSPGNLDKDEGSEVESEMDEELDDSSEPQAKREKTELS 631 - 700 QAFPVGCMQPVLETGVQPSLLNPIHSEHIVTSTQTIRQCSATGNTYTAV 701 - 749 //
