EFR3B

Chr 2

EFR3 homolog B

Also known as: KIAA0953

NCBI Gene: 22979 ENSG00000084710 UniProt: Q9Y2G0 OMIM: 616797

The EFR3B protein is a component of a complex that localizes phosphatidylinositol 4-kinase to the plasma membrane and regulates phosphatidylinositol 4-phosphate synthesis, serving as the membrane-anchoring component of this complex. Mutations in EFR3B cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy or early childhood. The gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

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

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P/LP missense

0.44

LOEUF

Multiple*

Mechanism· predicted