PYCR2 Gene Summary [Human]
This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
Details
| Type | Protein Coding |
| Official Symbol | PYCR2 |
| Official Name | pyrroline-5-carboxylate reductase 2 [Source:HGNC Symbol;Acc:HGNC:30262] |
| Ensembl ID | ENSG00000143811 |
| Bio databases IDs | |
| Aliases | pyrroline-5-carboxylate reductase 2 |
| Synonyms | 1810018M05Rik, Ebaf, HLD10, P5CR2, pyrroline-5-carboxylate reductase 2, pyrroline-5-carboxylate reductase family, member 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 PYCR2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- pyrroline-5-carboxylate reductase
- NADP oxidoreductase coenzyme F420-dependent
- enzyme
- protein binding
- Pyrroline-5-carboxylate reductase dimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- liver cancer
- organismal death
- hypomyelinating leukodystrophy type 10
- leukodystrophy
- colorectal cancer
- neuroaxonal dystrophy
- kyphosis
- hepatitis B virus-related hepatocellular carcinoma
role in cell
- proliferation
- migration
- growth
- expression in
- apoptosis
- phosphorylation in
- formation
- abnormal morphology
- epithelial-mesenchymal transition
- degeneration
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
- Nucleus
- Mitochondria
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PYCR2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to oxidative stress
- proline biosynthetic process
- L-proline biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- pyrroline-5-carboxylate reductase activity
- protein binding