Recombinant Human Transcription factor COE3 (EBF3)

1. Data show that early B-cell factor 3 (EBF3) was identified as the direct downstream target gene of miR-23b-3p. PMID: 29750239
2. Associations of Pulmonary Fibrosis with Peripheral Blood Th1/Th2 Cell Imbalance and EBF3 Gene Methylation in Uygur Pigeon Breeder's Lung Patients. PMID: 29913442
3. Results found that hypermethylation of the EBF3 promoter was associated with increased EBF3 mRNA levels in metastatic melanomas and subsequent inhibition of DNA methylation reduced EBF3 expression, suggesting that EBF3 promoter hypermethylation may be a candidate epigenetic driver of metastasis. PMID: 28030832
4. In 11 affected individuals from 11 unrelated families, we identified de novo variants in EBF3 as potentially causative for the neurodevelopmental phenotype. The variants include one nonsense, two frameshift deletions, one splice, and three missense variants. There are three de novo missense variants, (p.(Lys64Thr), p.(His157Gln), and p.(Arg209Gln), which are all in the COE1 DNA-binding domain. PMID: 29162653
5. EBF3, a transcription factor previously unknown to be associated with human disease, is important for brain and other organ development and warrants further investigation PMID: 28017370
6. findings indicate that mutations in EBF3 cause a genetic neurodevelopmental syndrome and suggest that loss of EBF3 function might mediate a subset of neurologic phenotypes shared by ARX-related disorders, including intellectual disability, abnormal genitalia, and structural CNS malformations PMID: 28017372
7. findings demonstrate that variants disrupting EBF3-mediated transcriptional regulation cause intellectual disability and developmental delay and are present in approximately 0.1% of individuals with unexplained neurodevelopmental disorders PMID: 28017373
8. Early B-cell factor 3 (EBF3) is a novel tumor suppressor gene with promoter hypermethylation in pediatric acute myeloid leukemia PMID: 25609158
9. EBF3 tumor suppressor is epigenetically silenced and that it serves as an independent prognostic marker in gastric carcinoma. PMID: 21387304
10. Results verify IRX1, EBF3, SLC5A8, SEPT9, and FUSSEL18 as valid methylation markers in two separate sets of HNSCC specimens; also preliminarily show a trend between HPV16 positivity and target gene hypermethylation of IRX1, EBF3, SLC5A8, and SEPT9. PMID: 20029986
11. Findings suggested that the transfection of EBF3 gene into HepG2 induced the cell proliferation from G1 phase to G2 phase by increasing the number of cells. PMID: 18845077
12. Expression of EBF3 resulted in cell cycle arrest and apoptosis. EBF3 regulates a transcriptional program underlying a putative tumor suppression pathway. PMID: 17018599
13. Frequent methylation of EBF3 gene is associated with head and neck squamous cell carcinoma PMID: 18559491

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HGNC: 19087

OMIM: 607407

KEGG: hsa:253738

UniGene: Hs.591374