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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CONGESTIVE HEART FAILURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HODGKIN DISEASE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Hodgkin Lymphoma Hodgkin Lymphoma CTD_human_DG 24688052
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29895827
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 29895827
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20198662, 21105050, 23295955, 24451681
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22761433, 24870594, 27315223, 35349697, 38310106 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23295955, 24451681 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 30532069 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30482855 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 38287824 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 30466107 Associate
★☆☆☆☆
Found in Text Mining only