Recombinant Human Transcription factor SOX-3 (SOX3)

1. Pathogenic missense mutation in SOX3 gene is associated with intellectual disability, microphthalmia, coloboma, hypopituitarism, facial dysmorphology and dental anomalies, including microcephaly, retrognathia and a solitary median maxillary central incisor amongst other features. PMID: 29175558
2. our data indicate that SOX3 may serve as an oncogene in osteosarcoma PMID: 29484385
3. deletion of the SOX3 gene may have a role in intellectual disability with hemophilia B PMID: 27477789
4. Results show that SOX3 is upregulated in human osteosarcoma (OS) tissues and provide evidence that SOX3 promotes migration, invasiveness, and EMT in OS cells via transcriptional activation of Snail1 expression. PMID: 28335789
5. we provide a first map of the epigenetic landscape of SOX3 in pluripotent cells and during the early phases of neural differentiation. We found SOX3 gene to be non methylated from undifferentiated NT2/D1 to cells committed towards neural lineage. PMID: 28886103
6. These findings demonstrate the novel mechanism by which Sox3 contributes to endometrial cancer stem cell invasion and suggest that repression of Sox3 by microRNA-194 may have therapeutic potential to suppress endometrial carcinoma metastasis. The cancer stem cell marker, CD133, might be the surface marker of endometrial cancer stem cell. PMID: 28618953
7. Data indicate that SRY-box 3 transcription factor SOX-3 targets Src kinase in epithelial ovarian cancer (EOC) cells. PMID: 27251670
8. SOX3 overdosage permits normal sex development in 46,XX individuals with random X inactivation. PMID: 25791725
9. Translocations interrupting this region may also affect the gonadal development, possibly depending on the chromatin context of the recipient chromosome. SOX3 duplications may substitute SRY in some XX subjects PMID: 25351776
10. Screening for SOX3 should be advised not only for hypopituitary patients with an ectopic posterior pituitary, but also for those with a structurally normal pituitary PMID: 25140394
11. Our study provides additional evidence that deletion in polyalanine tracts of SOX3 is associated with hypopituitarism PMID: 24346842
12. SOX3 duplication is a genetic cause for XH but has incomplete penetrance. Moreover, increased SOX3 levels may be a risk factor for NTD and potentially other clinical characteristics. PMID: 24737742
13. the results point at CREB as a positive regulator of SOX3 gene transcription in NT2/D1 cells, while its contribution to RA induction of SOX3 promoter is not prominent. PMID: 24257117
14. Overexpression of Sox3 is associated with esophageal squamous cell carcinoma. PMID: 23238694
15. Data indicate that HESX1, LHX4 and SOX3 polymorphisms may be associated with pituitary stalk interruption syndrome (PSIS). PMID: 23199197
16. TGIF (TG-interacting factor) is an additional TALE superfamily member involved in the regulation of human SOX3 gene expression PMID: 22293114
17. these results strongly support the pathogenicity of the identified insertions near SOX3 and establish X-linked congenital hypertrichosis syndrome as a genomic disorder. PMID: 21636067
18. identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal PMID: 21183788
19. SRY is a hybrid of DGCR8 and SOX3, and is regulated by the transcription factor CP2. PMID: 19902333
20. Data demonstrated that overexpressed PBX1 and MEIS1 increased endogenous SOX3 protein expression in both uninduced and RA-induced NT2/D1 cells. PMID: 19799567
21. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency PMID: 12428212
22. ... mechanisms underlying X-linked hypopituitarism are...being unravelled, with involvement of SOX3 in a pedigree with X-linked mental retardation ...isol. growth hormone defic., and PHF6 in two siblings with Borjeson-F-Leahmann syndrome. p. 1208 PMID: 14714741
23. Three nucleotide substitutions (609 T-->C, 732 A-->C, and 978 G-->A) were identified, none of which altered the amino acid sequence, suggesting that they are polymorphic variants. PMID: 15292361
24. Interestingly, all X linked hypopituitarism duplications contain SOX3 PMID: 15342697
25. SUMO-1 represses transcriptional activity of SOX3. PMID: 15788563
26. We conclude that both over- and underdosage of SOX3 are associated with similar phenotypes, consisting of infundibular hypoplasia and hypopituitarism but not necessarily MR. PMID: 15800844
27. liganded RXRalpha is a potent activator of endogenous SOX3 protein expression PMID: 17005281
28. Deregulation of SOX3 target genes may contribute to dysfunction of the hypothalamic-pituitary axis in X-linked Hypopituitarism patients. PMID: 17127446
29. Mutation by deletion of a polyalanine tract does not segregate with mental retardation. PMID: 17627381
30. Our data indicate that multiple CCAAT control elements are involved in the regulation of the SOX3 promoter, suggesting that NF-Y functions as a key regulator of SOX3 gene expression. PMID: 17910945
31. of the Xq27.1 breakpoint localized it to a 90 kb interval 3' of the SOX3 gene, supporting a novel role of SOX3 misexpression in the development of Peters anomaly of the eye PMID: 17994562

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HGNC: 11199

OMIM: 300123

KEGG: hsa:6658

STRING: 9606.ENSP00000359567

UniGene: Hs.157429