ORMDL2 Gene Summary [Human]
Involved in ceramide metabolic process. Acts upstream of or within negative regulation of ceramide biosynthetic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | ORMDL2 |
| Official Name | ORMDL sphingolipid biosynthesis regulator 2 [Source:HGNC Symbol;Acc:HGNC:16037] |
| Ensembl ID | ENSG00000123353 |
| Bio databases IDs | |
| Aliases | ORMDL sphingolipid biosynthesis regulator 2 |
| Synonyms | 0610012C09Rik, adoplin-2, HSPC160, MST095, MSTP095, ORM1-like 2 (S. cerevisiae), ORMDL sphingolipid biosynthesis regulator 2 |
| 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 ORMDL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- ORMDL family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- myopia
role in cell
- expression in
- synthesis in
- regulation in
- inhibition 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
- cellular membrane
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ORMDL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of ceramide biosynthetic process
- cellular sphingolipid homeostasis
- ceramide metabolic process
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
- serine C-palmitoyltransferase complex
Molecular Function
What the gene product does at the molecular level
- protein binding