| Tbio | Transcription factor SOX-8 |
May play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity).
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008]
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count |
|---|---|
| Peripheral Neuropathy | 303 |
| Disease | Target Count | P-value |
|---|---|---|
| psoriasis | 6685 | 1.9e-10 |
| pilocytic astrocytoma | 3086 | 6.8e-08 |
| non-inflammatory breast cancer | 208 | 2.9e-05 |
| medulloblastoma, large-cell | 6234 | 8.9e-05 |
| posterior fossa group A ependymoma | 1511 | 9.6e-05 |
| group 3 medulloblastoma | 2254 | 2.0e-04 |
| atypical teratoid/rhabdoid tumor | 1095 | 1.9e-03 |
| breast carcinoma | 1614 | 4.4e-03 |
| oligodendroglioma | 2849 | 5.6e-03 |
| invasive ductal carcinoma | 2950 | 8.9e-03 |
| subependymal giant cell astrocytoma | 2287 | 9.2e-03 |
| astrocytic glioma | 2241 | 1.8e-02 |
| Pick disease | 1893 | 2.8e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Campomelic dysplasia | 7 | 4.088 | 2.0 |
| Myoblastoma | 4 | 4.039 | 2.0 |
| Alpha thalassemia | 10 | 3.003 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | 2.600 | 1.8e-02 |
| oligodendroglioma | 3.100 | 5.6e-03 |
| posterior fossa group A ependymoma | -2.100 | 9.6e-05 |
| group 3 medulloblastoma | -3.200 | 2.0e-04 |
| atypical teratoid/rhabdoid tumor | -1.600 | 1.9e-03 |
| medulloblastoma, large-cell | -3.400 | 8.9e-05 |
| breast carcinoma | -1.400 | 4.4e-03 |
| pilocytic astrocytoma | 2.200 | 6.8e-08 |
| subependymal giant cell astrocytoma | -3.138 | 9.2e-03 |
| invasive ductal carcinoma | -1.294 | 8.9e-03 |
| psoriasis | -1.800 | 1.9e-10 |
| non-inflammatory breast cancer | -1.900 | 2.9e-05 |
| Pick disease | -1.100 | 2.8e-02 |
| PMID | Text | |
|---|---|---|
| 25550787 | In non-small cell lung cancer, SOX8 expression was elevated, and correlated with tumor size, lymph node metastasis, clinical stage and differentiation classification. | |
| 25400731 | Suggest that miRNA-124 may regulate non-small cell lung carcinoma cell proliferation via decreasing SOX8. | |
| 24643625 | SOX8 promotes cancer cell proliferation and its expression is correlated with elevated beta-catenin levels in hepatocellular carcinoma | |
| 24449344 | SOX8 mRNA levels decrease during in vitro dedifferentiation of human articular chondrocytes and increase during chondrogenic differentiation of mesenchymal stromal cells. | |
| 23739915 | The SOX8 single nucleotide polymorphism, rs2744148, is associated with increased genetic risk for multiple sclerosis. | |
| 19369635 | SOX2 and SOX17 expression patterns can distinguish between seminoma and embryonal carcinoma, and this distinction may be diagnostically useful. | |
| 18512230 | Quantitative changes of enteric glia represented by SOX8 provide a basis for pathological assessment of glial proliferation and/or degeneration in the diseased gut. |
MLDMSEARSQPPCSPSGTASSMSHVEDSDSDAPPSPAGSEGLGRAGVAVGGARGDPAEAADERFPACIRD 1 - 70 AVSQVLKGYDWSLVPMPVRGGGGGALKAKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLW 71 - 140 RLLSESEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSAKAGHSDSDSGAELGPHPGGGAVYKAEAGLGD 141 - 210 GHHHGDHTGQTHGPPTPPTTPKTELQQAGAKPELKLEGRRPVDSGRQNIDFSNVDISELSSEVMGTMDAF 211 - 280 DVHEFDQYLPLGGPAPPEPGQAYGGAYFHAGASPVWAHKSAPSASASPTETGPPRPHIKTEQPSPGHYGD 281 - 350 QPRGSPDYGSCSGQSSATPAAPAGPFAGSQGDYGDLQASSYYGAYPGYAPGLYQYPCFHSPRRPYASPLL 351 - 420 NGLALPPAHSPTSHWDQPVYTTLTRP 421 - 446 //
| PMID | Year | Title | |
|---|---|---|---|
| 25550787 | 2014 | miRNA-124 down-regulates SOX8 expression and suppresses cell proliferation in non-small cell lung cancer. | |
| 25400731 | 2014 | miRNA-124 down-regulates SOX8 expression and suppresses cell proliferation in non-small cell lung cancer. | |
| 24643625 | 2014 | Oncogenicity of the transcription factor SOX8 in hepatocellular carcinoma. | |
| 24449344 | 2014 | Brief report: importance of SOX8 for in vitro chondrogenic differentiation of human mesenchymal stromal cells. | |
| 23739915 | 2013 | MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis. | |
| 21833088 | 2011 | Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. | |
| 19369635 | 2009 | Differential expression of SOX2 and SOX17 in testicular germ cell tumors. | |
| 18512230 | 2008 | Quantitative assessment of glial cells in the human and guinea pig enteric nervous system with an anti-Sox8/9/10 antibody. | |
| 16582099 | 2006 | The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors. | |
| 15616553 | 2004 | The sequence and analysis of duplication-rich human chromosome 16. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. | |
| 12732652 | 2003 | SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro. | |
| 12665801 | 2003 | Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | |
| 11483257 | 2001 | Sox8 gene expression identifies immature glial cells in developing cerebellum and cerebellar tumours. | |
| 11157797 | 2001 | Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. | |
| 10684944 | 2000 | Cloning and characterisation of the Sry-related transcription factor gene Sox8. | |
| 10662550 | 2000 | The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. |
