EDEM2 Gene Summary [Human]
In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | EDEM2 |
| Official Name | ER degradation enhancing alpha-mannosidase like protein 2 [Source:HGNC Symbol;Acc:HGNC:15877] |
| Ensembl ID | ENSG00000088298 |
| Bio databases IDs | |
| Aliases | ER degradation enhancing alpha-mannosidase like protein 2 |
| Synonyms | 9530090G24Rik, bA4204.1, C20orf31, C20orf49, ER degradation enhancer, mannosidase alpha-like 2, ER degradation enhancer, mannosidase α-like 2, ER degradation enhancing alpha-mannosidase like protein 2, ER degradation enhancing α-mannosidase like protein 2, RGD1303074 |
| 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 EDEM2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyl hydrolase family 47
- mannosyl-oligosaccharide 1,2-alpha-mannosidase
- Cyclases involved in the biosynthesis of lantibiotics, and similar proteins
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- ulcerative colitis
- schizophrenia
- angioedema
role in cell
- degradation in
- stabilization in
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
- Extracellular Space
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EDEM2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- viral protein processing
- carbohydrate metabolic process
- mannoprotein catabolic process
- response to unfolded protein
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- membrane
- endoplasmic reticulum quality control compartment
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- calcium ion binding
- mannosyl-oligosaccharide 1,2-alpha-mannosidase activity