| Tbio | Homeobox protein SIX1 |
Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development. Plays an important role in the development of several organs, including kidney, muscle and inner ear. Depending on context, functions as transcriptional repressor or activator. Lacks an activation domain, and requires interaction with EYA family members for transcription activation. Mediates nuclear translocation of EYA1 and EYA2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter. Regulates the expression of numerous genes, including MYC, CCND1 and EZR. Acts as activator of the IGFBP5 promoter, probably coactivated by EYA2. Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex. During myogenesis, seems to act together with EYA2 and DACH2 (By similarity). Regulates the expression of CCNA1.
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Branchio-Oto-Renal Syndrome | 4 | 0.0 | 0.0 |
| Branchiootic syndrome 3 | 1 | 0.0 | 0.0 |
| Congenital Abnormalities | 11 | 0.0 | 0.0 |
| Craniofacial Abnormalities | 151 | 0.0 | 0.0 |
| DEAFNESS, AUTOSOMAL DOMINANT 23 | 1 | 0.0 | 0.0 |
| Endometrial Neoplasms | 55 | 0.0 | 0.0 |
| Wilms Tumor | 28 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| lung carcinoma | 2843 | 4.2e-16 |
| non-small cell lung cancer | 2890 | 2.8e-15 |
| breast carcinoma | 1638 | 4.5e-14 |
| lung adenocarcinoma | 2716 | 5.1e-08 |
| Astrocytoma, Pilocytic | 3081 | 5.0e-05 |
| malignant mesothelioma | 3232 | 1.1e-04 |
| glioblastoma | 5792 | 1.2e-04 |
| lung cancer | 4740 | 1.2e-04 |
| adult high grade glioma | 3801 | 2.3e-04 |
| atypical teratoid / rhabdoid tumor | 5112 | 4.3e-04 |
| nasopharyngeal carcinoma | 1058 | 1.0e-03 |
| ovarian cancer | 8520 | 2.7e-03 |
| invasive ductal carcinoma | 2951 | 5.2e-03 |
| medulloblastoma, large-cell | 6241 | 1.4e-02 |
| non primary Sjogren syndrome sicca | 891 | 2.0e-02 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 2.5e-02 |
| group 4 medulloblastoma | 1855 | 3.7e-02 |
| Breast cancer | 3578 | 4.2e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Nonsyndromic deafness | 142 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Autosomal dominant nonsyndromic deafness 23 | 3 | 3.857 | 1.9 |
| Autosomal dominant nonsyndromic deafness 10 | 4 | 3.8 | 1.9 |
| Renal agenesis | 29 | 3.741 | 1.9 |
| Cancer | 2499 | 3.416 | 1.7 |
| Townes-Brocks syndrome | 15 | 3.057 | 1.5 |
| Disease | Target Count |
|---|---|
| Branchiootorenal syndrome | 8 |
| Branchiootic syndrome | 12 |
| Melnick-Fraser syndrome | 2 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | 1.900 | 2.3e-04 |
| Astrocytoma, Pilocytic | 2.700 | 5.0e-05 |
| atypical teratoid / rhabdoid tumor | 2.200 | 4.3e-04 |
| Breast cancer | 2.100 | 4.2e-02 |
| breast carcinoma | 1.300 | 4.5e-14 |
| glioblastoma | 2.500 | 1.2e-04 |
| group 4 medulloblastoma | 2.000 | 3.7e-02 |
| intraductal papillary-mucinous neoplasm ... | 1.800 | 2.5e-02 |
| invasive ductal carcinoma | 1.800 | 5.2e-03 |
| lung adenocarcinoma | 2.800 | 5.1e-08 |
| lung cancer | 3.600 | 1.2e-04 |
| lung carcinoma | 2.200 | 4.2e-16 |
| malignant mesothelioma | 1.400 | 1.1e-04 |
| medulloblastoma, large-cell | 2.300 | 1.4e-02 |
| nasopharyngeal carcinoma | -1.200 | 1.0e-03 |
| non primary Sjogren syndrome sicca | 1.200 | 2.0e-02 |
| non-small cell lung cancer | 1.736 | 2.8e-15 |
| ovarian cancer | 1.900 | 2.7e-03 |
MSMLPSFGFTQEQVACVCEVLQQGGNLERLGRFLWSLPACDHLHKNESVLKAKAVVAFHRGNFRELYKIL 1 - 70 ESHQFSPHNHPKLQQLWLKAHYVEAEKLRGRPLGAVGKYRVRRKFPLPRTIWDGEETSYCFKEKSRGVLR 71 - 140 EWYAHNPYPSPREKRELAEATGLTTTQVSNWFKNRRQRDRAAEAKERENTENNNSSSNKQNQLSPLEGGK 141 - 210 PLMSSSEEEFSPPQSPDQNSVLLLQGNMGHARSSNYSLPGLTASQPSHGLQTHQHQLQDSLLGPLTSSLV 211 - 280 DLGS 281 - 284 //
