CEBPE CCAAT enhancer binding protein epsilon
Gene ID: 1053, updated on 5-Mar-2024Gene type: protein coding
Also known as: CRP1; SGD1; IMD108; C/EBP-epsilon; c/EBP epsilon
- See all available tests in GTR for this gene
- Go to complete Gene record for CEBPE
- Go to Variation Viewer for CEBPE variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. GeneReviews: Not available | |
| Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. GeneReviews: Not available | |
| Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. GeneReviews: Not available | |
| Pelger-Huet-like anomaly and episodic fever with abdominal pain | See labs |
| Specific granule deficiency 1 | See labs |
| Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. GeneReviews: Not available |
Genomic context
- Location:
- 14q11.2
- Sequence:
- Chromosome: 14; NC_000014.9 (23117306..23119255, complement)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CEBPE variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CEBPE database
- CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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