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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)
End	74,217,565 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	83,302,890 bp
RNA expression pattern
	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
	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
	10797
	17768
	ENSG00000065911
	ENSMUSG00000005667
	P13995
	P18155
	NM_001040409; NM_006636
	NM_008638
	NP_006627
	NP_032664
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000065911 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000005667 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Peri KG, Belanger C, Mackenzie RE (Dec 1989). "Nucleotide sequence of the human NAD-dependent methylene tetrahydrofolate dehydrogenase-cyclohydrolase". Nucleic Acids Res. 17 (21): 8853. doi:10.1093/nar/17.21.8853. PMC 335047. PMID 2587219.
^ Yang XM, MacKenzie RE (Nov 1993). "NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase is the mammalian homolog of the mitochondrial enzyme encoded by the yeast MIS1 gene". Biochemistry. 32 (41): 11118–23. doi:10.1021/bi00092a022. PMID 8218174.
^ ^a ^b "Entrez Gene: MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase".

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Kokame K, Kato H, Miyata T (1997). "Homocysteine-respondent genes in vascular endothelial cells identified by differential display analysis. GRP78/BiP and novel genes". J. Biol. Chem. 271 (47): 29659–65. doi:10.1074/jbc.271.47.29659. PMID 8939898.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Pawelek PD, MacKenzie RE (1998). "Methenyltetrahydrofolate cyclohydrolase is rate limiting for the enzymatic conversion of 10-formyltetrahydrofolate to 5,10-methylenetetrahydrofolate in bifunctional dehydrogenase-cyclohydrolase enzymes". Biochemistry. 37 (4): 1109–15. doi:10.1021/bi971906t. PMID 9454603.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000065911 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000005667 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2587219-5] Peri KG, Belanger C, Mackenzie RE (Dec 1989). "Nucleotide sequence of the human NAD-dependent methylene tetrahydrofolate dehydrogenase-cyclohydrolase". Nucleic Acids Res. 17 (21): 8853. doi:10.1093/nar/17.21.8853. PMC 335047. PMID 2587219.

[pmid8218174-6] Yang XM, MacKenzie RE (Nov 1993). "NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase is the mammalian homolog of the mitochondrial enzyme encoded by the yeast MIS1 gene". Biochemistry. 32 (41): 11118–23. doi:10.1021/bi00092a022. PMID 8218174.

[entrez-7] "Entrez Gene: MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase".

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MTHFD2

References

Further reading