MTHFD2 Gene Summary [Human]
This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | MTHFD2 |
| Official Name | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase [Source:HGNC Symbol;Acc:HGNC:7434] |
| Ensembl ID | ENSG00000065911 |
| Bio databases IDs | |
| Aliases | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase |
| Synonyms | LOC684490, methylenetetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase, NMDMC |
| 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 MTHFD2 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
- magnesium ion binding
- phosphate binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- experimental autoimmune encephalomyelitis
- neoplasia
- epithelial cancer
- organismal death
- amyotrophic lateral sclerosis
- breast cancer
- epithelial uterine cancer
- cervical cancer
- hereditary paraganglioma-pheochromocytoma syndrome
- prostatic adenocarcinoma
role in cell
- expression in
- proliferation
- apoptosis
- peroxidation in
- quantity
- colony formation by
- migration
- sphere formation
- cell proliferation
- gefitinib sensitivity
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
- Nucleus
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MTHFD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- folic acid metabolic process
- tetrahydrofolate interconversion
- tetrahydrofolate metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular space
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- protein binding
- phosphate ion binding
- methylenetetrahydrofolate dehydrogenase (NAD+) activity
- methylenetetrahydrofolate dehydrogenase (NADP+) activity
- methenyltetrahydrofolate cyclohydrolase activity