CEBPA Gene - CCAAT Enhancer Binding Protein Alpha
Key regulator of myeloid differentiation and tumor suppressor in acute myeloid leukemia
Gene Information Card
| Symbol | CEBPA |
|---|---|
| Full Name | CCAAT enhancer binding protein alpha |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 1050 ncbi.nlm.nih.gov/gene/1050 |
| Ensembl ID | ENSG00000245848 |
| UniProt ID | P49715 |
| OMIM ID | 116897 |
| HGNC ID | 1833 |
| Aliases | C/EBP-alpha, CEBP, C/EBP |
Description
CEBPA encodes the CCAAT/enhancer-binding protein alpha (C/EBPα), a transcription factor critical for myeloid lineage commitment and differentiation. It functions as a tumor suppressor in hematopoietic cells; biallelic mutations are recurrent in acute myeloid leukemia (AML), particularly in the normal karyotype subtype. C/EBPα regulates genes involved in cell cycle arrest and granulocytic differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | Biallelic CEBPA mutations disrupt DNA binding or dimerization, impairing differentiation and promoting leukemogenesis. | ClinVar, COSMIC, OMIM |
| Myelodysplastic syndromes (MDS) | CEBPA mutations contribute to ineffective hematopoiesis and progression to AML. | ClinVar, NCBI |
| Familial AML with mutated CEBPA | Germline CEBPA mutations predispose to AML with autosomal dominant inheritance. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Bone marrow | 8.7 | Medium |
| Lung | 6.2 | Low |
| Spleen | 5.1 | Low |
| Adipose tissue | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 | 15.2 | Promyelocytic leukemia line; high CEBPA expression |
| K-562 | 2.1 | Chronic myeloid leukemia line; low expression |
| HEK 293 | 1.5 | Embryonic kidney; minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.937C>T (p.Arg313*) | Nonsense | ~5% in AML | Truncation; loss of DNA-binding domain |
| c.1100_1105dup (p.Lys368_Glu369dup) | In-frame duplication | ~3% in AML | Disrupts basic region; dominant-negative effect |
| c.247C>T (p.Arg83Cys) | Missense | <1% | Reduced DNA binding; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in the N-terminal or bZIP domain abolish DNA binding and transactivation, impairing granulocytic differentiation.
Gain of Function (GOF)
Not commonly described; CEBPA acts primarily as a tumor suppressor.
Dominant Negative (DN)
C-terminal in-frame insertions/duplications produce proteins that dimerize with wild-type C/EBPα but fail to bind DNA, blocking normal function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Transcriptional regulation of granulopoiesis
• CEBPA-regulated myeloid differentiation
• p53-independent cell cycle arrest
Protein Summary
C/EBPα is a 42 kDa transcription factor with an N-terminal transactivation domain and a C-terminal basic leucine zipper (bZIP) domain. It forms homodimers or heterodimers with other C/EBP family members to regulate genes essential for myeloid differentiation, including CSF3R and G-CSF receptor. The protein also interacts with cell cycle machinery to induce growth arrest.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEBPA Knockout ZR-75-1 Cell Line | EDJ-KZ149 | Human | 1050 | Details Get a Quote |
| CEBPA Knockout HEK293 Cell Line | EDJ-KQ50184 | Human | 1050 | Details Get a Quote |
| CEBPA Knockout HeLa Cell Line | EDJ-KQ52873 | Human | 1050 | Details Get a Quote |
| CEBPA Knockout A-549 Cell Line | EDJ-KQ61344 | Human | 1050 | Details Get a Quote |
| CEBPA Knockout HCT 116 Cell Line | EDJ-KQ69838 | Human | 1050 | Details Get a Quote |
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