BECN2
protein-codingbeclin 2
Gene summary
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]
- BECN1P1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~1.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to BECN2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001290693.1. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 0 | |||||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 1 | 1 | 0 | 2 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001277622.1 | 1 | MANE Select | |
| Ensembl | ENSP00000488361.1 | 1 | MANE Select |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human)
- Apoptosis - multiple species - Homo sapiens (human)
- Autophagy - animal - Homo sapiens (human)
- Autophagy - other - Homo sapiens (human)
- Mitophagy - animal - Homo sapiens (human)
Biological Process
- autophagosome assembly
- autophagy
- cellular response to nitrogen starvation
- endosome to lysosome transport
- protein localization by the Cvt pathway
Molecular Function
- protein binding
- protein-containing complex binding
Cellular Component
- phagophore assembly site
- extrinsic component of membrane
- phosphatidylinositol 3-kinase complex, class III, type I
- phosphatidylinositol 3-kinase complex, class III, type II
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Involved in 2 distinct lysosomal degradation pathways: acts as a regulator of autophagy and as a regulator of G-protein coupled receptors turnover. Regulates degradation in lysosomes of a variety of G-protein coupled receptors via its interaction with GPRASP1/GASP1. {ECO:0000269|PubMed:23954414}.;