• Gene id: 10797

Gene Summary

• Gene Symbol: MTHFD2   Gene   UCSC   Ensembl
• Aliases: NMDMC
• Gene name: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
• Alternate names: bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial, NAD-dependent methylene tetrahydrofolate dehydrogenase cyclohydrolase,
• Gene location: 2p13.1 (91880732: 91870928)     Exons: 4     NC_000007.14
• Gene summary(Entrez): 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 ma
• OMIM: 604887

Protein Summary

• Protein general information: P13995  
  • Name: Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial [Includes: NAD dependent methylenetetrahydrofolate dehydrogenase (EC 1.5.1.15); Methenyltetrahydrofolate cyclohydrolase (EC 3.5.4.9)]
  • Length: 350  
  • Mass: 37895
• Sequence:

  MAATSLMSALAARLLQPAHSCSLRLRPFHLAAVRNEAVVISGRKLAQQIKQEVRQEVEEWVASGNKRPHLSVILV
  GENPASHSYVLNKTRAAAVVGINSETIMKPASISEEELLNLINKLNNDDNVDGLLVQLPLPEHIDERRICNAVSP
  DKDVDGFHVINVGRMCLDQYSMLPATPWGVWEIIKRTGIPTLGKNVVVAGRSKNVGMPIAMLLHTDGAHERPGGD
  ATVTISHRYTPKEQLKKHTILADIVISAAGIPNLITADMIKEGAAVIDVGINRVHDPVTAKPKLVGDVDFEGVRQ
  KAGYITPVPGGVGPMTVAMLMKNTIIAAKKVLRLEEREVLKSKELGVATN

• Structural information:
  • Interpro: IPR036291  IPR000672  IPR020630  IPR020867  IPR020631  
  • Prosite: PS00766 PS00767
  • CDD: cd01080
  • PDB: 1ZN4 5TC4 6JIB 6JID 6KG2
  • PDBsum: 1ZN4 5TC4 6JIB 6JID 6KG2
  • STRING: ENSP00000377617
• Other Databases: GeneCards:  MTHFD2  Malacards:  MTHFD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004477	methenyltetrahydrofolate cyclohydrolase activity	IBA	molecular function
GO:0004487	methylenetetrahydrofolate dehydrogenase (NAD+) activity	IBA	molecular function
GO:0004488	methylenetetrahydrofolate dehydrogenase (NADP+) activity	IBA	molecular function
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0035999	tetrahydrofolate interconversion	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0042301	phosphate ion binding	IMP	molecular function
GO:0000287	magnesium ion binding	IMP	molecular function
GO:0004487	methylenetetrahydrofolate dehydrogenase (NAD+) activity	IMP	molecular function
GO:0004488	methylenetetrahydrofolate dehydrogenase (NADP+) activity	IMP	molecular function
GO:0004488	methylenetetrahydrofolate dehydrogenase (NADP+) activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004487	methylenetetrahydrofolate dehydrogenase (NAD+) activity	IEA	molecular function
GO:0004477	methenyltetrahydrofolate cyclohydrolase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0046655	folic acid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0042301	phosphate ion binding	IDA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0046653	tetrahydrofolate metabolic process	IDA	biological process
GO:0004488	methylenetetrahydrofolate dehydrogenase (NADP+) activity	IDA	molecular function
GO:0004487	methylenetetrahydrofolate dehydrogenase (NAD+) activity	IDA	molecular function
GO:0005615	extracellular space	HDA	cellular component
GO:0004477	methenyltetrahydrofolate cyclohydrolase activity	ISS	molecular function
GO:0005739	mitochondrion	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)