MTHFD2

Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial is an enzyme that in humans is encoded by the MTHFD2 gene.^[5][6][7]

MTHFD2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1ZN4
Identifiers
Aliases	MTHFD2, NMDMC, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
External IDs	OMIM: 604887; MGI: 1338850; HomoloGene: 21321; GeneCards: MTHFD2; OMA:MTHFD2 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p13.1 Start 74,186,172 bp[1] End 74,217,565 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 C3|6 35.94 cM Start 83,282,673 bp[2] End 83,302,890 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cartilage tissue Descending thoracic aorta popliteal artery tibial arteries ascending aorta gonad left coronary artery right coronary artery stromal cell of endometrium tibia Top expressed in lacrimal gland seminal vesicula Ileal epithelium zygote calvaria secondary oocyte primary oocyte primitive streak Paneth cell salivary gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity catalytic activity hydrolase activity methenyltetrahydrofolate cyclohydrolase activity magnesium ion binding methylenetetrahydrofolate dehydrogenase (NAD+) activity methylenetetrahydrofolate dehydrogenase (NADP+) activity phosphate ion binding Cellular component mitochondrion cytosol mitochondrial matrix extracellular space Biological process metabolism one-carbon metabolic process tetrahydrofolate metabolic process folic acid metabolic process tetrahydrofolate interconversion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10797 17768 Ensembl ENSG00000065911 ENSMUSG00000005667 UniProt P13995 P18155 RefSeq (mRNA) NM_001040409 NM_006636 NM_008638 RefSeq (protein) NP_006627 NP_032664 Location (UCSC) Chr 2: 74.19 – 74.22 Mb Chr 6: 83.28 – 83.3 Mb PubMed search [3] [4]
Wikidata
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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 multiple transcripts encoding different isoforms. This gene has a pseudogene on chromosome 7.^[7]