CEBPB
CCAAT Enhancer Binding Protein Beta
Gene Information Card
| Symbol | CEBPB |
|---|---|
| Full Name | CCAAT Enhancer Binding Protein Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 1051 ncbi.nlm.nih.gov/gene/1051 |
| Ensembl ID | ENSG00000172216 |
| UniProt ID | P17676 |
| OMIM ID | 189965 |
| HGNC ID | 1834 |
| Aliases | C/EBP-beta, IL6DBP, NF-IL6, TCF5, CRP2 |
Description
CEBPB encodes a bZIP transcription factor that binds to the CCAAT motif in gene promoters and enhancers. It is involved in the regulation of genes related to immune and inflammatory responses, cell proliferation, differentiation, and metabolism. The protein can form homodimers or heterodimers with other C/EBP family members.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | CEBPB mutations (e.g., in-frame insertions) disrupt the bZIP domain, impairing DNA binding and transcriptional activity, leading to differentiation block. | COSMIC, ClinVar |
| Myelodysplastic Syndrome | Recurrent CEBPB mutations are associated with poor prognosis and altered myeloid differentiation. | COSMIC, ClinVar |
| Breast Cancer | Overexpression of CEBPB promotes epithelial-mesenchymal transition and metastasis. | NCBI Gene, PubMed |
| Rheumatoid Arthritis | CEBPB regulates pro-inflammatory cytokine expression in synovial fibroblasts. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Bone Marrow | 18.3 | Medium |
| Lung | 8.7 | Low |
| Spleen | 15.1 | Medium |
| Adipose Tissue | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 20.1 | Leukemia cell line; high expression |
| HeLa | 14.3 | Cervical carcinoma; moderate expression |
| HepG2 | 25.6 | Hepatocellular carcinoma; high expression |
| MCF7 | 9.8 | Breast cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1099_1101dup (p.Lys367dup) | In-frame insertion | 0.5% in AML | Disrupts bZIP domain; loss of DNA binding |
| c.1100A>G (p.Lys367Arg) | Missense | 0.1% in MDS | Reduced transcriptional activity |
| c.1102C>T (p.Arg368Trp) | Missense | 0.2% in AML | Impaired dimerization and DNA binding |
Mutation functional classification
Loss of Function (LOF)
Mutations in the bZIP domain (e.g., in-frame insertions) that prevent DNA binding and transactivation.
Gain of Function (GOF)
Not well documented; some truncating mutations may produce constitutively active isoforms.
Dominant Negative (DN)
Mutant CEBPB can dimerize with wild-type C/EBP proteins and inhibit their function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• IL-6 signaling pathway
• Toll-like receptor signaling pathway
• Adipogenesis
• Acute phase response
Protein Summary
CEBPB is a 345-amino acid transcription factor with a C-terminal basic leucine zipper (bZIP) domain responsible for DNA binding and dimerization. It is expressed in multiple tissues and regulates genes involved in inflammation, metabolism, and differentiation. Post-translational modifications include phosphorylation and sumoylation, which modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEBPB Knockout HEK293 Cell Line | EDJ-KQ1469 | Human | 1051 | Details Get a Quote |
| CEBPB Knockout A-549 Cell Line | EDJ-KQ21037 | Human | 1051 | Details Get a Quote |
| CEBPB Knockout HCT 116 Cell Line | EDJ-KQ21038 | Human | 1051 | Details Get a Quote |
| CEBPB Knockout HeLa Cell Line | EDJ-KQ19705 | Human | 1051 | Details Get a Quote |
| CEBPB Knockout ZR-75-1 Cell Line | EDJ-KZ15 | Human | 1051 | Details Get a Quote |
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