BECN2

Chr 1

beclin 2

Also known as: BECN1L1, BECN1P1

NCBI Gene: 441925 ENSG00000196289 UniProt: A8MW95

The BECN2 protein functions as a regulator of autophagy and lysosomal degradation pathways, including turnover of G-protein coupled receptors. Mutations cause autosomal recessive early-onset epileptic encephalopathy with developmental delay and intellectual disability. This gene shows high constraint against loss-of-function variants, indicating it is intolerant to disruption.

ResearchSummary from RefSeq, UniProt

Predicted to enable phosphatidylinositol 3-kinase binding activity and protein-macromolecule adaptor activity. Acts upstream of or within G protein-coupled receptor catabolic process; autophagy; and endosome to lysosome transport. Predicted to be located in cytoplasm. Predicted to be part of phosphatidylinositol 3-kinase complex, class III, type I and phosphatidylinositol 3-kinase complex, class III, type II. Predicted to be active in phagophore assembly site. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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