ATG2A Gene (Autophagy Related 2A)
Key regulator of autophagosome formation and lipid transport
Gene Information Card
| Symbol | ATG2A |
|---|---|
| Full Name | Autophagy Related 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 23130 ncbi.nlm.nih.gov/gene/23130 |
| Ensembl ID | ENSG00000110046 |
| UniProt ID | Q2TAZ0 |
| OMIM ID | 616503 |
| HGNC ID | 29042 |
| Aliases | FLJ10055, ATG2, FLJ20458 |
Description
ATG2A encodes a protein involved in autophagy, specifically in autophagosome formation. It functions as a lipid transfer protein that facilitates the expansion of the phagophore membrane. ATG2A is part of the ATG2 family and interacts with ATG9A and other autophagy-related proteins. It is widely expressed and plays a role in cellular homeostasis and stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders | Impaired autophagy due to ATG2A dysfunction may lead to accumulation of damaged proteins and organelles. | Inferred from functional studies and model organisms |
| Cancer | Altered ATG2A expression may influence tumor progression and response to therapy. | Expression data from COSMIC and literature |
| Metabolic diseases | Autophagy dysregulation can affect lipid metabolism and insulin sensitivity. | Inferred from pathway involvement |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Muscle | 5.1 | Low |
| Kidney | 7.9 | Low |
| Lung | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK293 | 12.8 | Embryonic kidney cells |
| HepG2 | 9.7 | Liver cancer cell line |
| A549 | 8.4 | Lung carcinoma cells |
| MCF7 | 7.1 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% | Potential impact on protein stability |
| c.456delC (p.Leu153fs) | Frameshift | Rare | Loss of function |
| c.789G>A (p.Val263Ile) | Missense | 0.02% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to reduced ATG2A protein levels, impairing autophagy.
Gain of Function (GOF)
No evidence for gain-of-function mutations currently.
Dominant Negative (DN)
Not reported; ATG2A functions as part of a complex, but no dominant-negative variants are documented.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • lipid transfer |
| • membrane organization | • protein homodimerization activity |
| • phospholipid binding |
Pathways
• Autophagy - other
• Mitophagy
• Selective autophagy
Protein Summary
ATG2A is a large protein (~2000 amino acids) localized to the endoplasmic reticulum and autophagosome precursors. It contains a Chorein-N domain and a VPS13-like domain, which are involved in lipid transfer. ATG2A forms a complex with ATG9A and ATG18 (WIPI proteins) to mediate lipid transport from the ER to the phagophore, enabling membrane expansion. It is essential for starvation-induced autophagy and plays a role in lipid droplet homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATG2A Knockout HEK293 Cell Line | EDJ-KQ1958 | Human | 23130 | Details Get a Quote |
| ATG2A Knockout A-549 Cell Line | EDJ-KQ20621 | Human | 23130 | Details Get a Quote |
| ATG2A Knockout HCT 116 Cell Line | EDJ-KQ21915 | Human | 23130 | Details Get a Quote |
| ATG2A Knockout HeLa Cell Line | EDJ-KQ21916 | Human | 23130 | Details Get a Quote |
