EBF2

Chr 8

EBF transcription factor 2

Also known as: COE2, EBF-2, O/E-3, OE-3

NCBI Gene: 64641 ENSG00000221818 UniProt: Q9HAK2 OMIM: 609934

EBF2 encodes a transcription factor that regulates bone development by activating TNFRSF11B in osteoblasts, which controls osteoclast differentiation and bone remodeling. Mutations cause autosomal dominant hypodontia and delayed tooth eruption. This gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=0.19), indicating that such mutations are likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]

OMIM 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

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted