CEBPB
Chr 20CCAAT enhancer binding protein beta
Also known as: C/EBP-beta, IL6DBP, NF-IL6, TCF5
CEBPB encodes a transcription factor with a basic leucine zipper domain that regulates genes involved in immune and inflammatory responses, adipogenesis, gluconeogenesis, and hematopoiesis. Mutations cause autosomal recessive intellectual developmental disorder with dysmorphic facies, seizures, and behavioral abnormalities. The gene shows moderate tolerance to loss-of-function variants (pLI 0.36, LOEUF 1.03).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
62 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 48 | 1 | 0 | 49 |
Likely Benign | 0 | 1 | 1 | 1 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 49 | 12 | 1 | 62 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CEBPB · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools