Overview

Location [1]
19q13.11
Protein [2]
CCAAT/enhancer-binding protein alpha
Synonyms [1]
C/EBP-alpha, CEBP

CCAAT/enhancer binding protein, alpha (CEBPA) is a gene that encodes a protein that functions as a transcription factor that contains a leucine zipper and identifies CCAAT motifs in the promoter regions of gene targets. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as hematopoietic and lymphoid cancers, cervical cancer, and intestinal cancer.

CEBPA is altered in 1.37% of all cancers with non-small cell lung carcinoma, ovarian neoplasm, breast carcinoma, colorectal adenocarcinoma, and leukemia having the greatest prevalence of alterations [3].

CEBPA GENIE Cases - Top Diseases

The most common alterations in CEBPA are CEBPA Mutation (0.67%), CEBPA Amplification (0.62%), CEBPA Missense (0.53%), CEBPA Deletion (0.05%), and CEBPA Insertion (0.04%) [3].

CEBPA GENIE Cases - Top Alterations

Significance of CEBPA in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Myeloid Sarcoma +

Refractory Anemia With Excess Blasts +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.