ATG2B Gene Summary [Human]
This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | ATG2B |
| Official Name | autophagy related 2B [Source:HGNC Symbol;Acc:HGNC:20187] |
| Ensembl ID | ENSG00000066739 |
| Bio databases IDs | |
| Aliases | autophagy related 2B, bridge-like lipid transfer protein family member 4B |
| Synonyms | 2410024A21RIK, autophagy related 2B, AW558123, BLTP4B, C030004M05RIK, C14orf103, C630028L02Rik, mKIAA4067, RGD1304878 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATG2B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid transporter
- N-terminal region of Chorein or VPS13
- protein binding
- Autophagy-related protein C terminal domain
- transporter
Pathways
Biological processes and signaling networks where the ATG2B gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dementia
role in cell
- binding in
- formation
- formation in
- accumulation in
- accumulation
- autophagy in
- autophagic flux in
- frequency
- clustering in
- clustering
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATG2B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- autophagic vacuole assembly
- piecemeal microautophagy of nucleus
- peroxisome degradation
- mitochondrion degradation
Cellular Component
Where in the cell the gene product is active
- lipid particle
- endoplasmic reticulum membrane
- pre-autophagosomal structure membrane
- pre-autophagosomal structure
Molecular Function
What the gene product does at the molecular level
- protein anchor
- phosphatidylinositol-3-phosphate binding