ATG9B
Autophagy Related 9B Gene
Gene Information Card
| Symbol | ATG9B |
|---|---|
| Full Name | Autophagy Related 9B |
| Gene Type | Protein coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 79026 ncbi.nlm.nih.gov/gene/79026 |
| Ensembl ID | ENSG00000106462 |
| UniProt ID | Q86VY4 |
| OMIM ID | 612247 |
| HGNC ID | 22408 |
| Aliases | APG9L2, APG9B, FLJ10853, MGC138211, MGC138213 |
Description
ATG9B (Autophagy Related 9B) is a protein-coding gene that encodes a transmembrane protein essential for autophagosome formation. It is a core component of the autophagy machinery, involved in the delivery of membrane lipids to the expanding phagophore. ATG9B cycles between the Golgi apparatus, endosomes, and the phagophore assembly site, regulating autophagic flux. The gene is located on chromosome 7q36.1 and is expressed in multiple tissues, with highest levels in the brain, heart, and skeletal muscle. Mutations and altered expression of ATG9B have been implicated in cancer, neurodegenerative disorders, and metabolic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulated autophagy due to ATG9B mutations or altered expression may promote tumorigenesis by impairing cellular quality control and stress responses. | COSMIC; ClinVar |
| Neurodegenerative disorders (e.g., Alzheimer disease) | Impaired autophagy contributes to accumulation of misfolded proteins; ATG9B variants may affect autophagic clearance. | NCBI Gene; OMIM |
| Metabolic syndrome | ATG9B involvement in lipid metabolism and autophagy may influence insulin resistance and obesity. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Skeletal muscle | 9.2 | Medium |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.3 | Embryonic kidney cells |
| HeLa | 7.1 | Cervical cancer cells |
| SH-SY5Y | 11.2 | Neuroblastoma cells |
| HepG2 | 5.9 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.457G>A (p.Gly153Ser) | Missense | <0.01% | Likely benign; no known disease association |
| c.1234A>G (p.Thr412Ala) | Missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ATG9B are predicted to impair autophagosome formation, leading to defective autophagy and accumulation of damaged organelles and proteins.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for ATG9B.
Dominant Negative (DN)
No dominant-negative mutations have been reported for ATG9B.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • autophagosome assembly |
| • protein transport | • Golgi to endosome transport |
| • membrane fusion | • lipid transport |
Pathways
• Autophagy - animal
• mTOR signaling pathway
• Mitophagy
• Selective autophagy
Protein Summary
ATG9B is a multi-pass transmembrane protein that localizes to the Golgi apparatus, endosomes, and autophagosomal membranes. It is the only transmembrane core autophagy protein, functioning as a membrane scramblase to supply lipids for phagophore expansion. ATG9B interacts with ATG2A/WIPI complexes and cycles between donor membranes and the phagophore assembly site. Its activity is essential for autophagosome biogenesis and cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATG9B Knockout HEK293 Cell Line | EDJ-KQ2582 | Human | 285973 | Details Get a Quote |
| ATG9B Knockout HCT 116 Cell Line | EDJ-KQ24654 | Human | 285973 | Details Get a Quote |
| ATG9B Knockout HeLa Cell Line | EDJ-KQ59541 | Human | 285973 | Details Get a Quote |
| ATG9B Knockout A-549 Cell Line | EDJ-KQ68009 | Human | 285973 | Details Get a Quote |
