| Tbio | DNA-binding protein RFX2 |
Transcription factor that acts as a key regulator of spermatogenesis. Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (By similarity). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters (PubMed:10330134). Probably activates transcription of the testis-specific histone gene HIST1H1T (By similarity).
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, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]
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, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| Breast cancer | 3469 | 2.1e-19 |
| non-small cell lung cancer | 2799 | 7.9e-15 |
| lung adenocarcinoma | 2627 | 7.1e-11 |
| ovarian cancer | 8297 | 9.0e-08 |
| nasopharyngeal carcinoma | 1024 | 1.4e-07 |
| osteosarcoma | 7766 | 5.3e-05 |
| invasive ductal carcinoma | 2867 | 1.0e-04 |
| ductal carcinoma in situ | 1686 | 1.1e-04 |
| atypical teratoid / rhabdoid tumor | 4971 | 3.5e-04 |
| glioblastoma | 5635 | 4.0e-04 |
| medulloblastoma, large-cell | 6086 | 6.1e-04 |
| astrocytic glioma | 2530 | 2.5e-03 |
| tuberculosis | 1963 | 3.0e-03 |
| group 3 medulloblastoma | 4002 | 5.2e-03 |
| ependymoma | 4559 | 5.9e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cognitive disorder | 48 | 0.0 | 1.4 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Amyotrophic lateral sclerosis type 3 | 17 | 3.426 | 1.7 |
| Spermatic cord torsion | 12 | 3.058 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | 1.100 | 2.5e-03 |
| atypical teratoid / rhabdoid tumor | 1.400 | 3.5e-04 |
| Breast cancer | -1.700 | 2.1e-19 |
| ductal carcinoma in situ | -1.100 | 1.1e-04 |
| ependymoma | 1.200 | 5.9e-03 |
| glioblastoma | 1.200 | 4.0e-04 |
| group 3 medulloblastoma | -1.100 | 5.2e-03 |
| invasive ductal carcinoma | -1.400 | 1.0e-04 |
| lung adenocarcinoma | -1.200 | 7.1e-11 |
| medulloblastoma, large-cell | 1.200 | 6.1e-04 |
| nasopharyngeal carcinoma | -1.400 | 1.4e-07 |
| non-small cell lung cancer | -1.695 | 7.9e-15 |
| osteosarcoma | 1.189 | 5.3e-05 |
| ovarian cancer | -1.100 | 9.0e-08 |
| tuberculosis | -1.100 | 3.0e-03 |
MQNSEGGADSPASVALRPSAAAPPVPASPQRVLVQAASSNPKGAQMQPISLPRVQQVPQQVQPVQHVYPA 1 - 70 QVQYVEGGDAVYTNGAIRTAYTYNPEPQMYAPSSTASYFEAPGGAQVTVAASSPPAVPSHSMVGITMDVG 71 - 140 GSPIVSSAGAYLIHGGMDSTRHSLAHTSRSSPATLEMAIENLQKSEGITSHKSGLLNSHLQWLLDNYETA 141 - 210 EGVSLPRSSLYNHYLRHCQEHKLDPVNAASFGKLIRSVFMGLRTRRLGTRGNSKYHYYGIRLKPDSPLNR 211 - 280 LQEDTQYMAMRQQPMHQKPRYRPAQKTDSLGDSGSHSGLHSTPEQTMAVQSQHHQQYIDVSHVFPEFPAP 281 - 350 DLGSFLLQDGVTLHDVKALQLVYRRHCEATVDVVMNLQFHYIEKLWLSFWNSKASSSDGPTSLPASDEDP 351 - 420 EGAVLPKDKLISLCQCDPILRWMRSCDHILYQALVEILIPDVLRPVPSTLTQAIRNFAKSLEGWLTNAMS 421 - 490 DFPQQVIQTKVGVVSAFAQTLRRYTSLNHLAQAARAVLQNTSQINQMLSDLNRVDFANVQEQASWVCQCE 491 - 560 ESVVQRLEQDFKLTLQQQSSLDQWASWLDSVVTQVLKQHAGSPSFPKAARQFLLKWSFYSSMVIRDLTLR 561 - 630 SAASFGSFHLIRLLYDEYMFYLVEHRVAEATGETPIAVMGEFNDLASLSLTLLDKDDMGDEQRGSEAGPD 631 - 700 ARSLGEPLVKRERSDPNHSLQGI 701 - 723 //
