CEBPE

Chr 14q11.2

CCAAT enhancer binding protein epsilon

Aliases:: CRP1
MANE:: ENST00000206513.6

OMIM: 600749 ↗NCBI: 1053 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CEBPE · Q15744

v62025-08-01

Predicted Aligned Error matrix for CEBPE — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.2/ 100

Low

281 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)5%
Low(50–70)39%
Very low(< 50)33%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

Recurrent infection due to specific granule deficiency
0.75
specific granule deficiency
0.66
Pelger-Huet-like anomaly and episodic fever with abdominal pain
0.50
acute lymphoblastic leukemia
0.28
B-cell acute lymphoblastic leukemia
0.26
hereditary disease
0.19
liver disorder
0.12
common variable immunodeficiency
0.07
isolated agammaglobulinemia
0.07
Miyoshi myopathy
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

CCAAT/enhancer-binding protein epsilon

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)