CEBPD
CCAAT Enhancer Binding Protein Delta
Gene Information Card
| Symbol | CEBPD |
|---|---|
| Full Name | CCAAT Enhancer Binding Protein Delta |
| Gene Type | Protein coding |
| Chromosomal Location | 8q11.21 |
| NCBI Gene ID | 1052 ncbi.nlm.nih.gov/gene/1052 |
| Ensembl ID | ENSG00000121879 |
| UniProt ID | P49716 |
| OMIM ID | 116898 |
| HGNC ID | 1834 |
| Aliases | CELF, CRP3, NF-IL6-beta |
Description
CEBPD (CCAAT Enhancer Binding Protein Delta) is a transcription factor belonging to the basic leucine zipper (bZIP) family. It regulates genes involved in immune and inflammatory responses, cell differentiation, metabolism, and apoptosis. CEBPD is expressed in various tissues and plays critical roles in adipogenesis, mammary gland development, and acute phase response. Dysregulation of CEBPD is implicated in several cancers and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | CEBPD overexpression promotes tumor growth and metastasis through regulation of cell cycle and apoptosis genes. | PMID: 25636800; COSMIC |
| Acute Myeloid Leukemia | CEBPD mutations or altered expression contribute to impaired myeloid differentiation. | PMID: 21572415; ClinVar |
| Inflammatory Bowel Disease | CEBPD regulates pro-inflammatory cytokine expression in intestinal epithelial cells. | PMID: 23431263 |
| Obesity and Metabolic Syndrome | CEBPD is involved in adipocyte differentiation and lipid metabolism. | PMID: 19033668 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Mammary gland | 15.1 | High |
| Lung | 6.2 | Low |
| Bone marrow | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF-7 (breast cancer) | 18.4 | High expression |
| HepG2 (liver cancer) | 9.7 | Moderate expression |
| THP-1 (monocyte) | 14.2 | High expression upon LPS stimulation |
| K562 (leukemia) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.637C>T (p.Arg213Trp) | Missense | <0.1% | Altered DNA binding affinity; reported in AML |
| c.832_833insA (p.Thr278Asnfs*12) | Frameshift | <0.1% | Loss of function; associated with myeloid disorders |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Loss of protein expression; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start loss mutations lead to truncated or absent protein, impairing transcriptional activation of target genes.
Gain of Function (GOF)
Missense mutations in the bZIP domain may enhance DNA binding or cofactor recruitment, promoting oncogenic signaling.
Dominant Negative (DN)
Some CEBPD mutants can dimerize with wild-type C/EBP proteins and inhibit their function, disrupting normal differentiation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• IL-6 signaling pathway (Reactome: R-HSA-1059683)
• Adipogenesis (WikiPathways: WP236)
• TNF-alpha signaling (KEGG: hsa04668)
• Acute phase response (KEGG: hsa04610)
Protein Summary
CEBPD is a 269-amino acid transcription factor with a C-terminal bZIP domain mediating dimerization and DNA binding. It recognizes CCAAT motifs in promoter regions. The protein is induced by inflammatory stimuli (e.g., IL-6, LPS) and regulates target genes involved in cell cycle control, differentiation, and immune response. Post-translational modifications include phosphorylation and sumoylation, modulating its activity and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEBPD Knockout HEK293 Cell Line | EDJ-KQ3212 | Human | 1052 | Details Get a Quote |
| CEBPD Knockout A-549 Cell Line | EDJ-KQ24685 | Human | 1052 | Details Get a Quote |
| CEBPD Knockout HCT 116 Cell Line | EDJ-KQ24686 | Human | 1052 | Details Get a Quote |
| CEBPD Knockout HeLa Cell Line | EDJ-KQ24687 | Human | 1052 | Details Get a Quote |
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