EBF2 Gene Summary [Human]
The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]
Details
| Type | Protein Coding |
| Official Symbol | EBF2 |
| Official Name | EBF transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:19090] |
| Ensembl ID | ENSG00000221818 |
| Bio databases IDs | |
| Aliases | EBF transcription factor 2, Collier, Olf and EBF transcription factor 2 |
| Synonyms | COE2, D14Ggc1e, early B cell factor 2, EBF transcription factor 2, Mmot1, O/E-3, OE-3 |
| 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 EBF2 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
- transcription regulator
- nucleic acid binding
- Transcription factor COE1 helix-loop-helix domain
- IPT
- chromatin binding
- Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- IPT/TIG domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- hypertension
- obesity
- epithelial cancer
- inguinal hernia
- prostate cancer
- metabolic syndrome X
- breast carcinoma
- cardiovascular disorder
- hypoplasia
role in cell
- binding
- expression in
- differentiation
- activation in
- migration
- development
- abnormal morphology
- number
- conduction
- generation
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
- nucleoplasm
- chromatin
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EBF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- brown fat cell differentiation
- positive regulation of transcription from RNA polymerase II promoter
- cell fate determination
- adipose tissue development
- 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
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity