CEBPE: CCAAT Enhancer Binding Protein Epsilon
A key myeloid transcription factor in granulocyte differentiation and immune function
Gene Information Card
| Symbol | CEBPE |
|---|---|
| Full Name | CCAAT Enhancer Binding Protein Epsilon |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 1051 ncbi.nlm.nih.gov/gene/1051 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q15744 |
| OMIM ID | 600749 |
| HGNC ID | 1836 |
| Aliases | C/EBP-epsilon, CRP1 |
Description
CEBPE encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. This protein is specifically expressed in myeloid cells and is essential for terminal differentiation of granulocytes, particularly neutrophils and eosinophils. It regulates genes involved in immune response and myeloid cell maturation. Mutations in CEBPE cause neutrophil-specific granule deficiency, a rare primary immunodeficiency characterized by recurrent infections and abnormal neutrophil morphology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neutrophil-specific granule deficiency (SGD) | Loss-of-function mutations in CEBPE impair terminal granulocyte differentiation, leading to absence of secondary granules in neutrophils and defective chemotaxis and bactericidal activity. | OMIM #245480; ClinVar; PMID: 11751629 |
| Acute myeloid leukemia (AML) | CEBPE mutations (e.g., frameshift, nonsense) are recurrent in AML, particularly in the CEBPE isoform, disrupting myeloid differentiation and promoting leukemogenesis. | COSMIC; PMID: 19838197 |
| Myelodysplastic syndromes (MDS) | CEBPE alterations contribute to dysplastic hematopoiesis and progression to AML. | COSMIC; PMID: 21572415 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Blood | 6.7 | Low |
| Lung | 1.2 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (promyelocytic leukemia) | 15.2 | High expression; model for granulocytic differentiation |
| K-562 (chronic myeloid leukemia) | 3.1 | Low expression |
| THP-1 (monocytic leukemia) | 2.5 | Low expression |
| NB4 (acute promyelocytic leukemia) | 18.7 | High expression; induced by retinoic acid |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.247C>T (p.Arg83*) | Nonsense | Rare | Loss of function; truncation of DNA-binding domain; associated with SGD |
| c.325_326insA (p.Thr109Asnfs*12) | Frameshift | Rare | Loss of function; premature stop; associated with SGD |
| c.502C>T (p.Arg168Cys) | Missense | Rare | Loss of function; disrupts DNA binding; reported in AML |
| c.668_669delAG (p.Glu223Glyfs*19) | Frameshift | Rare | Loss of function; truncation; reported in AML |
Mutation functional classification
Loss of Function (LOF)
Most CEBPE mutations (nonsense, frameshift, missense in DNA-binding domain) result in loss of transcriptional activity, impairing granulocyte differentiation and causing neutrophil-specific granule deficiency or predisposing to AML.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CEBPE.
Dominant Negative (DN)
Some CEBPE mutations (e.g., truncations retaining dimerization domain) may exert dominant-negative effects by interfering with wild-type C/EBP family members, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Myeloid cell differentiation (Reactome: R-HSA-9616222)
• Transcriptional regulation of granulopoiesis (KEGG: hsa04630)
• C/EBP transcription factor network (WikiPathways: WP437)
Protein Summary
CEBPE is a 281-amino acid transcription factor with a basic leucine zipper (bZIP) domain that mediates DNA binding and dimerization. It is predominantly expressed in myeloid progenitor cells and is critical for the expression of secondary granule proteins (e.g., lactoferrin, gelatinase) in neutrophils. The protein forms homodimers or heterodimers with other C/EBP family members (e.g., CEBPA, CEBPB) to regulate target genes. Post-translational modifications include phosphorylation, which modulates its activity. Loss of CEBPE function leads to neutrophil-specific granule deficiency, while aberrant expression is implicated in acute myeloid leukemia.
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