Aliases for CEBPE Gene
External Ids for CEBPE Gene
Previous GeneCards Identifiers for CEBPE Gene
The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for CEBPE Gene
CEBPE (CCAAT/Enhancer Binding Protein Epsilon) is a Protein Coding gene. Diseases associated with CEBPE include Specific Granule Deficiency 1 and Neutrophil-Specific Granule Deficiency. Among its related pathways are Transcriptional misregulation in cancer and Endometrial cancer. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is CEBPB.
UniProtKB/Swiss-Prot for CEBPE Gene
Transcriptional activator (PubMed:26019275). C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Required for the promyelocyte-myelocyte transition in myeloid differentiation (PubMed:10359588).