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GenoLensGenoLens

BECN1

Chr 17q21.31

beclin 1

Aliases:
ATG6, VPS30
MANE:
ENST00000590099.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • COVID-19 research

    Unknown

Disease associations (Open Targets)

  • neurodegenerative disease

    0.55
  • COVID-19

    0.48
  • dengue disease

    0.37
  • severe acute respiratory syndrome

    0.37
  • lysosomal storage disease

    0.28
  • neoplasm

    0.12
  • hepatocellular carcinoma

    0.12
  • breast cancer

    0.12
  • breast carcinoma

    0.11
  • colorectal carcinoma

    0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Beclin-1

Plays a central role in autophagy (PubMed:18570871, PubMed:21358617, PubMed:23184933, PubMed:23974797, PubMed:25484083, PubMed:28445460, PubMed:37776275). Acts as a core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abscission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20208530, PubMed:20643123, PubMed:23974797, PubMed:26783301). Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Involved in endocytosis (PubMed:25275521). May play a role in antiviral host defense

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.