BECN2
Beclin 2, Autophagy and Endolysosomal Trafficking Regulator
Gene Information Card
| Symbol | BECN2 |
|---|---|
| Full Name | Beclin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q43 |
| NCBI Gene ID | 100506742 ncbi.nlm.nih.gov/gene/100506742 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A6NCL1 |
| OMIM ID | 615847 |
| HGNC ID | 37206 |
| Aliases | beclin 2, beclin-2 |
Description
BECN2 (Beclin 2) is a protein-coding gene that encodes a key regulator of autophagy and endolysosomal trafficking. It functions as a scaffold protein, interacting with the class III phosphatidylinositol 3-kinase (PI3K) complex to initiate autophagosome formation and also mediates the endolysosomal degradation of G protein-coupled receptors (GPCRs), such as the GABA-B receptor. BECN2 is essential for cellular homeostasis and its dysregulation is implicated in cancer, neurodegenerative disorders, and metabolic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (e.g., breast, lung) | Loss of BECN2 expression impairs autophagy, promoting tumorigenesis and resistance to chemotherapy. | PMID: 23479731, COSMIC |
| Neurodegeneration (Alzheimer's, Parkinson's) | Defective autophagy due to BECN2 deficiency leads to accumulation of toxic protein aggregates. | PMID: 23479731 |
| Metabolic disorders (obesity, diabetes) | BECN2-mediated degradation of GPCRs (e.g., GABA-B receptor) influences insulin signaling and energy balance. | PMID: 23479731 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Liver | 3.8 | Low |
| Kidney | 4.1 | Low |
| Lung | 2.9 | Low |
| Breast | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.3 | Low expression |
| HeLa | 1.8 | Low expression |
| MCF7 | 0.9 | Not detected |
| A549 | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of function; reduced autophagy |
| c.100C>T (p.Arg34Trp) | Missense | <0.1% | Unknown; predicted damaging by SIFT |
| c.200delA | Frameshift | <0.1% | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to truncated or unstable BECN2 protein impair autophagy and endolysosomal trafficking, contributing to tumorigenesis and neurodegeneration.
Gain of Function (GOF)
No gain-of-function mutations reported in BECN2.
Dominant Negative (DN)
No dominant-negative mutations reported in BECN2.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • endolysosomal trafficking |
| • protein binding | • phosphatidylinositol 3-kinase complex assembly |
| • G protein-coupled receptor catabolic process |
Pathways
• Autophagy (KEGG hsa04140)
• Endocytosis (KEGG hsa04144)
• PI3K/AKT signaling
Protein Summary
Beclin 2 is a 446-amino acid protein containing a Bcl-2 homology 3 (BH3) domain and a coiled-coil domain. It interacts with ATG14L, VPS34, and other autophagy-related proteins to promote autophagosome formation. Additionally, it binds to the GABA-B receptor and targets it for lysosomal degradation, regulating GPCR signaling. Beclin 2 is structurally similar to Beclin 1 but has distinct functions in endolysosomal trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BECN2 Knockout HEK293 Cell Line | EDJ-KQ1443 | Human | 441925 | Details Get a Quote |
| BECN2 Knockout HeLa Cell Line | EDJ-KQ60442 | Human | 441925 | Details Get a Quote |
| BECN2 Knockout A-549 Cell Line | EDJ-KQ68910 | Human | 441925 | Details Get a Quote |
| BECN2 Knockout HCT 116 Cell Line | EDJ-KQ77271 | Human | 441925 | Details Get a Quote |
