Gene Gene information from NCBI Gene database.
Entrez ID 10797
Gene name Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
Gene symbol MTHFD2
Synonyms (NCBI Gene)
NMDMC
Chromosome 2
Chromosome location 2p13.1
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 ma
miRNA miRNA information provided by mirtarbase database.
876
miRTarBase ID miRNA Experiments Reference
MIRT001354 hsa-miR-1-3p pSILAC 18668040
MIRT021039 hsa-miR-155-5p Proteomics 18668040
MIRT001354 hsa-miR-1-3p Proteomics;Other 18668040
MIRT031940 hsa-miR-16-5p Proteomics 18668040
MIRT047797 hsa-miR-30d-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 8218174
GO:0000287 Function Magnesium ion binding IMP 16100107
GO:0003824 Function Catalytic activity IEA
GO:0004477 Function Methenyltetrahydrofolate cyclohydrolase activity IBA
GO:0004477 Function Methenyltetrahydrofolate cyclohydrolase activity IDA 16100107
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604887 7434 ENSG00000065911
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P13995
Protein name Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial [Includes: NAD-dependent methylenetetrahydrofolate dehydrogenase (EC 1.5.1.15); Methenyltetrahydrofolate cyclohydrolase (EC 3.5.4.9)]
Protein function Although its dehydrogenase activity is NAD-specific, it can also utilize NADP at a reduced efficiency.
PDB 5TC4 , 6JIB , 6JID , 6KG2 , 6S4A , 6S4E , 6S4F , 7EHJ , 7EHM , 7EHN , 7EHV , 9IS9 , 9ISC , 9IT3 , 9IT6 , 9ITA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00763 THF_DHG_CYH 39 155 Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain Domain
PF02882 THF_DHG_CYH_C 158 332 Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain Domain
Sequence
Sequence length 350
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  One carbon pool by folate
Metabolic pathways
Biosynthesis of cofactors
  Metabolism of folate and pterines
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs371097814 RCV005939401
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenine Nucleotide Translocator Deficiency Inhibit 30532069
Adenocarcinoma of Lung Stimulate 36138435
Breast Neoplasms Associate 22761433, 24870594, 27315223, 35349697, 38310106
Breast Neoplasms Stimulate 23295955, 24451681
Calcinosis Cutis Associate 23295955
Carcinogenesis Associate 30532069
Carcinoma Hepatocellular Associate 30482855
Carcinoma Hepatocellular Stimulate 38287824
Carcinoma Non Small Cell Lung Associate 33015789, 36827714
Carcinoma Non Small Cell Lung Stimulate 36051358