EBF2: Early B-Cell Factor 2 – A Key Regulator of Adipogenesis and Neuronal Development
Comprehensive genomic and functional analysis of EBF2, a transcription factor involved in brown fat differentiation and bone homeostasis.
Gene Information Card
| Symbol | EBF2 |
|---|---|
| Full Name | Early B-Cell Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.2 |
| NCBI Gene ID | 64641 ncbi.nlm.nih.gov/gene/64641 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9HAK2 |
| OMIM ID | 609639 |
| HGNC ID | 3127 |
| Aliases | COE2, O/E-3, OE-3 |
Description
EBF2 (Early B-Cell Factor 2) encodes a transcription factor belonging to the COE (Collier/Olf/EBF) family. It plays a critical role in the differentiation of brown adipocytes, osteoblastogenesis, and neuronal development. EBF2 binds to DNA as a homodimer and regulates genes involved in energy metabolism and skeletal patterning.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoporosis | EBF2 deficiency impairs osteoblast differentiation and bone formation, leading to reduced bone mass. | Mouse models (OMIM 609639) |
| Obesity / Metabolic Syndrome | EBF2 is essential for brown adipose tissue development; loss of function disrupts thermogenesis and energy expenditure. | Mouse knockout studies (NCBI Gene) |
| Neural Tube Defects | EBF2 is expressed in developing forebrain; mutations may contribute to abnormal neuronal migration. | Expression studies (UniProt Q9HAK2) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue (brown) | 12.5 | High |
| Bone marrow | 8.3 | Medium |
| Brain (cerebral cortex) | 6.1 | Medium |
| Skeletal muscle | 2.4 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HMC3 (microglia) | 9.7 | Neuronal lineage expression |
| hTERT-HME1 (mammary epithelial) | 4.2 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 7.5 | Neuronal model |
| 3T3-L1 (preadipocyte) | 11.3 | High during adipogenesis |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | Rare (0.0004) | Potential loss of DNA-binding affinity |
| c.1022_1023del (p.Leu341Argfs*12) | Frameshift | Very rare | Truncated protein, likely loss of function |
| c.754G>A (p.Gly252Ser) | Missense | 0.0001 | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in EBF2 are predicted to cause haploinsufficiency, impairing brown adipocyte differentiation and bone formation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EBF2.
Dominant Negative (DN)
Missense mutations in the DNA-binding domain may act in a dominant-negative manner by forming non-functional dimers.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PPAR signaling pathway (Reactome: R-HSA-381340)
• Transcriptional regulation of white adipocyte differentiation (WikiPathways: WP287)
• Brown adipocyte differentiation (KEGG: hsa04931)
Protein Summary
EBF2 is a 575-amino acid transcription factor containing a DNA-binding domain and a helix-loop-helix dimerization domain. It forms homodimers and binds to EBF-binding sites in promoters of target genes. The protein is predominantly nuclear and is essential for the specification and maturation of brown adipocytes, as well as for osteoblast function. Post-translational modifications include phosphorylation, which may modulate its transcriptional activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EBF2 Knockout HEK293 Cell Line | EDJ-KQ1997 | Human | 64641 | Details Get a Quote |
| EBF2 Knockout HCT 116 Cell Line | EDJ-KQ22001 | Human | 64641 | Details Get a Quote |
| EBF2 Knockout HeLa Cell Line | EDJ-KQ57067 | Human | 64641 | Details Get a Quote |
| EBF2 Knockout A-549 Cell Line | EDJ-KQ65579 | Human | 64641 | Details Get a Quote |
