EBF3 Gene Summary [Human]
This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
Details
| Type | Protein Coding |
| Official Symbol | EBF3 |
| Official Name | EBF transcription factor 3 [Source:HGNC Symbol;Acc:HGNC:19087] |
| Ensembl ID | ENSG00000108001 |
| Bio databases IDs | |
| Aliases | EBF transcription factor 3, Transcription factor COE3 |
| Synonyms | 3110018A08Rik, COE3, DKFZp667B0210, early B cell factor 3, EBF transcription factor 3, HADDS, mKIAA4201, O/E-2, OE-2, Olf-1/EBF-like 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EBF3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- Transcription factor COE1 helix-loop-helix domain
- IPT
- double-stranded DNA binding
- IPT/TIG domain
- protein binding
- Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
- sequence-specific DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Parkinson disease
- hypotonia, ataxia and delayed development syndrome
- dementia
- hereditary disorder
- insomnia
- impotence
- restless legs syndrome
- mental retardation
- Mobius syndrome
- Pierre Robin syndrome
regulates
- DNA promoter
- DNA endogenous promoter
- RNA polymerase II
role in cell
- migration
- survival
- development
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- chromatin
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EBF3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of transcription, DNA-dependent
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity