Homo sapiens Gene: MTHFD2
Summary
InnateDB Gene IDBG-57007.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MTHFD2
Gene Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
Synonyms NMDMC
Species Homo sapiens
Ensembl Gene ENSG00000065911
Encoded Proteins
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:74198562-74217565
Strand Forward strand
Band p13.1
Transcripts
ENST00000394053 ENSP00000377617
ENST00000409804 ENSP00000386536
ENST00000409601 ENSP00000386542
ENST00000470592 ENSP00000419067
ENST00000477455
ENST00000489041 ENSP00000419550
ENST00000488086
ENST00000462026
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000287 magnesium ion binding
GO:0003824 catalytic activity
GO:0004477 methenyltetrahydrofolate cyclohydrolase activity
GO:0004487 methylenetetrahydrofolate dehydrogenase (NAD+) activity
GO:0004488 methylenetetrahydrofolate dehydrogenase (NADP+) activity
GO:0016787 hydrolase activity
GO:0042301 phosphate ion binding
Biological Process
GO:0006730 one-carbon metabolic process
GO:0009396 folic acid-containing compound biosynthetic process
GO:0046653 tetrahydrofolate metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005615 extracellular space
GO:0005739 mitochondrion
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
One carbon pool by folate pathway
INOH
Folate metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.596295 Hs.697648
RefSeq NM_006636 XM_006711924
HUGO
OMIM
CCDS CCDS1935
HPRD 05351
IMGT
EMBL
GenPept
RNA Seq Atlas