CEBPB

Chr 20

CCAAT enhancer binding protein beta

Also known as: C/EBP-beta, IL6DBP, NF-IL6, TCF5

NCBI Gene: 1051 ENSG00000172216 UniProt: P17676

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).

ResearchSummary from RefSeq, UniProt

This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions. [provided by RefSeq, Oct 2013]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

245

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.02

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)