The EBF3 gene encodes Early B-cell Factor 3, a transcription factor critical for neuronal development and function. EBF3 belongs to the Collier/Olfactory/EBF (COE) family of transcription factors and is essential for proper brain development, synapse formation, and cognitive function.
| Attribute | Value |
|---|---|
| Symbol | EBF3 |
| Full Name | Early B-cell Factor 3 |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 1999 |
| OMIM | 607414 |
| Ensembl ID | ENSG00000108001 |
| UniProt | Q5VTU4 |
EBF3 is a transcription factor that regulates gene expression:
| Disease | Mechanism | Evidence |
|---|---|---|
| Alzheimer's Disease | EBF3 is downregulated in AD brains; loss affects neuronal survival genes | PMID: 29458324 |
| Huntington's Disease | EBF3 dysfunction may contribute to striatal neuron vulnerability | PMID: 26782345 |
| Neurodevelopmental Disorders | EBF3 mutations cause intellectual disability and developmental delay | PMID: 26350204 |
EBF3 acts as a tumor suppressor in several cancers; loss is associated with poor prognosis.
EBF3 is a potential target for: