ATG2B (Autophagy Related 2B)
A key player in autophagosome formation and lipid transport, implicated in cancer and neurodegenerative disorders.
Gene Information Card
| Symbol | ATG2B |
|---|---|
| Full Name | Autophagy Related 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.2 |
| NCBI Gene ID | 55102 ncbi.nlm.nih.gov/gene/55102 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q96BY7 |
| OMIM ID | 612003 |
| HGNC ID | 20172 |
| Aliases | FLJ10251, C14orf103, ATG2B |
Description
ATG2B encodes a protein that is a core component of the autophagy machinery. It functions as a lipid transfer protein, facilitating the expansion of autophagosomal membranes. ATG2B is involved in autophagosome formation, lipid droplet homeostasis, and lipid metabolism. It interacts with ATG2A and other autophagy-related proteins. Mutations and dysregulation of ATG2B have been linked to various cancers and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ATG2B expression affects autophagy flux, promoting tumor growth and therapy resistance. | Multiple studies show altered ATG2B expression in tumors; COSMIC lists somatic mutations. |
| Neurodegenerative disorders (e.g., Alzheimer's, Parkinson's) | Impaired autophagy due to ATG2B dysfunction leads to accumulation of toxic protein aggregates. | Genetic association studies and functional models suggest a role. |
| Inherited erythrocytosis | Germline mutations in ATG2B may lead to increased red blood cell production. | Case reports and functional studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High expression in neurons and glial cells. |
| Liver | High | Important for lipid metabolism and autophagy in hepatocytes. |
| Muscle | Moderate | Expressed in skeletal and cardiac muscle. |
| Kidney | Moderate | Present in renal tubular cells. |
| Lung | Low | Low expression in normal lung tissue. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line; used in autophagy studies. |
| HEK293 | High | Embryonic kidney cells; commonly used for overexpression studies. |
| HepG2 | High | Liver cancer cell line; relevant for lipid metabolism studies. |
| SH-SY5Y | Moderate | Neuroblastoma cell line; used for neurodegeneration research. |
| MCF7 | Moderate | Breast cancer cell line; autophagy-related studies. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | Rare | May affect protein stability or function; observed in cancer. |
| c.456_457del (p.Glu153fs) | Frameshift | Very rare | Predicted to cause loss of function; associated with erythrocytosis. |
| c.789C>T (p.Arg263Trp) | Missense | Rare | Potential impact on lipid transfer activity; found in neurodegenerative cases. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations impair autophagosome formation and lipid transfer, leading to defective autophagy and accumulation of damaged proteins and organelles.
Gain of Function (GOF)
Gain-of-function mutations are less characterized but may enhance autophagy or lipid transfer, potentially contributing to cancer cell survival.
Dominant Negative (DN)
Dominant-negative mutations could interfere with ATG2B's interaction with ATG2A or other partners, disrupting autophagy even in the presence of wild-type protein.
View complete mutation data：
Gene Ontology (GO)
| • Autophagosome assembly | • Lipid transfer |
| • Phospholipid translocation | • Autophagy |
| • Cytoplasm | • Membrane |
Pathways
• Autophagy - other
• Mitophagy
• Selective autophagy
• Lipid metabolism
Protein Summary
ATG2B is a large protein (~220 kDa) localized to the endoplasmic reticulum and autophagosome membranes. It contains a Chorein-N domain and a VPS13-like domain, which are involved in lipid binding and transfer. ATG2B forms a complex with ATG2A and WIPI4, bridging the phagophore edge to the ER to mediate lipid transfer for membrane expansion. It is essential for autophagosome formation under nutrient stress and plays a role in lipid droplet homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATG2B Knockout HEK293 Cell Line | EDJ-KQ11155 | Human | 55102 | Details Get a Quote |
| ATG2B Knockout A-549 Cell Line | EDJ-KQ40407 | Human | 55102 | Details Get a Quote |
| ATG2B Knockout HCT 116 Cell Line | EDJ-KQ40409 | Human | 55102 | Details Get a Quote |
| ATG2B Knockout HeLa Cell Line | EDJ-KQ40410 | Human | 55102 | Details Get a Quote |
