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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CEBPA
CCAAT enhancer binding protein alpha
Chromosome 19 Β· 19q13.11
NCBI Gene: 1050Ensembl: ENSG00000245848.3HGNC: HGNC:1833UniProt: P49715
553PubMed Papers
21Diseases
0Drugs
67Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IISTAT family protein bindingnegative regulation of cell population proliferationregulation of DNA-templated transcriptionacute myeloid leukemiaInherited cancer-predisposing syndromehereditary neoplastic syndromeneurodegenerative disease
✦AI Summary

CEBPA (CCAAT enhancer binding protein alpha) is a key transcription factor that regulates myeloid differentiation and serves as a critical prognostic marker in acute myeloid leukemia (AML). The protein functions as a DNA-binding transcription factor that enhances gene expression, particularly of differentiation-promoting genes like claudin-5 in endothelial cells 1. In AML, CEBPA mutations occur in 5-15% of cases and are classified into single (CEBPAsm) or double (CEBPAdm) mutations affecting different protein domains 23. Mechanistically, mutations in the basic leucine zipper (bZIP) domain, particularly in-frame insertions/deletions (bZIPInDel), are the primary determinants of favorable prognosis in CEBPA-mutant AML 45. These bZIP mutations confer superior complete remission rates and overall survival compared to other CEBPA mutation types. The protein's function is regulated through complex interactions with other transcription factors including GATA2, with TET2 co-mutations affecting GATA2 expression levels and disease aggressiveness 6. Additionally, CEBPA can be repressed by oncogenic factors like MECOM, which blocks differentiation programs and drives aggressive leukemia phenotypes 7. Clinically, CEBPA bZIP mutations serve as powerful independent prognostic indicators, with potential implications for treatment stratification and targeted therapeutic approaches in AML patients.

Sources cited
1
CEBPA acts as a transcription factor that directly binds the claudin-5 promoter to enhance endothelial barrier function
PMID: 32673519
2
CEBPA mutations occur in 5.1% of AML cases and are classified into biallelic (CEBPAdm) and monoallelic (CEBPAsm) mutations with different prognostic impacts
PMID: 34320176
3
CEBPAsm and CEBPAdm AML show distinct co-mutation patterns with different genes like NPM1, FLT3-ITD, GATA2, and WT1
PMID: 35314954
4
bZIPInDel mutations are the major independent determinant of favorable outcome in CEBPA-mutant AML
PMID: 38228680
5
CEBPA mutations in the bZIP domain are strongly associated with favorable prognosis, higher complete remission rates, and better overall survival
PMID: 34448807
6
TET2 co-mutations affect GATA2 expression levels through promoter methylation, rebalancing GATA2 levels in CEBPA-mutant AML
PMID: 37794021
7
MECOM directly represses CEBPA through a cis-regulatory element, blocking differentiation programs and driving aggressive AML phenotypes
PMID: 40991835
Disease Associationsβ“˜21
acute myeloid leukemiaOpen Targets
0.83Strong
hereditary neoplastic syndromeOpen Targets
0.39Weak
Inherited cancer-predisposing syndromeOpen Targets
0.39Weak
neurodegenerative diseaseOpen Targets
0.37Weak
inherited acute myeloid leukemiaOpen Targets
0.37Weak
acute myeloid leukemia with mutated NPM1Open Targets
0.37Weak
acute myeloid leukemia, t(3;5)(q25;q34)Open Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.33Weak
chronic myelogenous leukemiaOpen Targets
0.30Weak
non-small cell lung carcinomaOpen Targets
0.30Weak
myelodysplastic syndromeOpen Targets
0.29Weak
small cell lung carcinomaOpen Targets
0.29Weak
lung adenocarcinomaOpen Targets
0.29Weak
chronic myelomonocytic leukemiaOpen Targets
0.29Weak
diffuse large B-cell lymphomaOpen Targets
0.28Weak
urinary bladder carcinomaOpen Targets
0.28Weak
multiple myelomaOpen Targets
0.28Weak
skin squamous cell carcinomaOpen Targets
0.28Weak
cervical squamous cell carcinomaOpen Targets
0.28Weak
prostate adenocarcinomaOpen Targets
0.28Weak
Leukemia, acute myelogenousUniProt
Pathogenic Variants67
NM_004364.5(CEBPA):c.68dup (p.His24fs)Pathogenic
Acute myeloid leukemia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 24
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter)Pathogenic
Acute myeloid leukemia
β˜…β˜…β˜†β˜†2022β†’ Residue 108
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter)Pathogenic
not provided|Acute myeloid leukemia
β˜…β˜…β˜†β˜†2021β†’ Residue 59
NM_004364.5(CEBPA):c.247del (p.Gln83fs)Pathogenic
not provided|Acute myeloid leukemia
β˜…β˜…β˜†β˜†2020β†’ Residue 83
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs)Pathogenic
Acute myeloid leukemia|not provided
β˜…β˜…β˜†β˜†2017β†’ Residue 111
NM_004364.5(CEBPA):c.134dup (p.Pro46fs)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2026β†’ Residue 46
NM_004364.5(CEBPA):c.253dup (p.Ser85fs)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2025β†’ Residue 85
NM_004364.5(CEBPA):c.62del (p.Ser21fs)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2025β†’ Residue 21
NM_004364.5(CEBPA):c.63_64delinsA (p.Ser21fs)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2025β†’ Residue 21
NM_004364.5(CEBPA):c.96del (p.Arg35fs)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2025β†’ Residue 35
NM_004364.5(CEBPA):c.932A>C (p.Gln311Pro)Likely pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2024β†’ Residue 311
NM_004364.5(CEBPA):c.350del (p.Gly117fs)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2024β†’ Residue 117
NM_004364.5(CEBPA):c.341del (p.Gly114fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 114
NM_004364.5(CEBPA):c.273_309delinsGGCCAGGGTCT (p.Lys92fs)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2024β†’ Residue 92
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 148
NM_004364.5(CEBPA):c.179dup (p.Ser61fs)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2023β†’ Residue 61
NM_004364.5(CEBPA):c.890G>C (p.Arg297Pro)Likely pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2022β†’ Residue 297
NM_004364.5(CEBPA):c.69del (p.His24fs)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2022β†’ Residue 24
NM_004364.5(CEBPA):c.324C>A (p.Tyr108Ter)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2022β†’ Residue 108
NM_004364.5(CEBPA):c.186_190del (p.Asp63fs)Pathogenic
Acute myeloid leukemia
β˜…β˜†β˜†β˜†2022β†’ Residue 63
View on ClinVar β†—
Related Genes
CREB1Protein interaction100%GATA2Protein interaction99%IL6RProtein interaction99%CDK2Protein interaction99%CDKN1AProtein interaction99%RUNX1Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
18%
Lung
11%
Brain
3%
Heart
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
CEBPACREB1GATA2IL6RCDK2CDKN1ARUNX1
PROTEIN STRUCTURE
Preparing viewer…
PDB8K8C Β· 2.06 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.37LoF Tolerant
pLIβ“˜
0.26Tolerant
Observed/Expected LoF0.45 [0.18–1.37]
RankingsWhere CEBPA stands among ~20K protein-coding genes
  • #442of 20,598
    Most Researched553 Β· top 5%
  • #1,077of 5,498
    Most Pathogenic Variants67 Β· top quartile
  • #14,299of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedCEBPA
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Prognostic impact of CEBPA mutational subgroups in adult AML.
PMID: 38228680
Leukemia Β· 2024
1.00
2
Mutant CEBPA promotes tolerance to inflammatory stress through deficient AP-1 activation.
PMID: 40221437
Nat Commun Β· 2025
0.94
3
Prognostic impact of CEBPA bZIP domain mutation in acute myeloid leukemia.
PMID: 34448807
Blood Adv Β· 2022
0.90
4
Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemia.
PMID: 38972954
Nat Commun Β· 2024
0.82
5
CEBPA mutations in 4708 patients with acute myeloid leukemia: differential impact of bZIP and TAD mutations on outcome.
PMID: 34320176
Blood Β· 2022
0.80