PCYT2 Gene Summary [Human]
This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | PCYT2 |
| Official Name | phosphate cytidylyltransferase 2, ethanolamine [Source:HGNC Symbol;Acc:HGNC:8756] |
| Ensembl ID | ENSG00000185813 |
| Bio databases IDs | |
| Aliases | phosphate cytidylyltransferase 2, ethanolamine, CTP:phosphoethanolamine cytidylyltransferase, phosphorylethanolamine transferase, ethanolamine-phosphate cytidylyltransferase: |
| Synonyms | 1110033E03Rik, ET, phosphate cytidylyltransferase 2, ethanolamine, Phosphorylethanolamine Transferase, SPG82 |
| 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 PCYT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cytidylyltransferase-like
- cytidyltransferase-like domain
- ethanolamine-phosphate cytidylyltransferase
- enzyme
- protein binding
- nucleotidyl transferase superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive spastic paraplegia type 82
- hereditary disorder
- gastric adenocarcinoma
- gastric epithelial cancer
- cutaneous melanoma
- cutaneous melanoma cancer
role in cell
- accumulation in
- frequency
- accumulation
- morphology
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
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PCYT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phosphatidylethanolamine biosynthetic process
- phospholipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- ethanolamine-phosphate cytidylyltransferase activity
- protein binding