MTHFD2L Gene Summary [Human]
Predicted to enable methenyltetrahydrofolate cyclohydrolase activity; methylenetetrahydrofolate dehydrogenase (NAD+) activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in tetrahydrofolate interconversion. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | MTHFD2L |
| Official Name | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like [Source:HGNC Symbol;Acc:HGNC:31865] |
| Ensembl ID | ENSG00000163738 |
| Bio databases IDs | |
| Aliases | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like |
| Synonyms | 1110019K23Rik, C630010D07Rik, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like, MGC72244, RGD1310879 |
| 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 MTHFD2L 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
- Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
- methylenetetrahydrofolate dehydrogenase (NADP)
- methylenetetrahydrofolate dehydrogenase (NAD)
- methenyltetrahydrofolate cyclohydrolase
- 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
- organismal death
- male pattern hair loss
- rheumatoid arthritis
regulates
- folic acid
- 10-formyltetrahydrofolic acid
- UTP
role in cell
- tubulation
- tubulation in
- fragmentation in
- fragmentation
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
- Mitochondria
- mitochondrial matrix
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MTHFD2L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- methionine biosynthetic process
- purine nucleotide biosynthetic process
- folic acid metabolic process
- tetrahydrofolate interconversion
- histidine biosynthetic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- methylenetetrahydrofolate dehydrogenase (NAD+) activity
- methylenetetrahydrofolate dehydrogenase (NADP+) activity
- methenyltetrahydrofolate cyclohydrolase activity