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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MTHFD2
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
Chromosome 2 · 2p13.1
NCBI Gene: 10797Ensembl: ENSG00000065911.13HGNC: HGNC:7434UniProt: P13995
138PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionGO:0005615methenyltetrahydrofolate cyclohydrolase activitymethylenetetrahydrofolate dehydrogenase (NAD+) activityneurodegenerative diseasesign or symptomcancerbreast cancer
✦AI Summary

MTHFD2 is a mitochondrial enzyme that catalyzes key reactions in one-carbon metabolism, specifically methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities 1. The enzyme primarily supports de novo purine synthesis by generating one-carbon units within mitochondria, which are essential for nucleotide biosynthesis 2. MTHFD2 also contributes to mitochondrial tRNA methylation, specifically producing taurinomethyluridine modifications required for proper mitochondrial translation and oxidative phosphorylation 3. Beyond its metabolic functions, MTHFD2 exhibits non-metabolic roles in cell signaling by driving UDP-GlcNAc biosynthesis, which promotes O-GlcNAcylation of proteins including cMYC, enhancing transcription factor stability and PD-L1 expression 4. MTHFD2 is highly upregulated in various cancers and serves as a metabolic checkpoint controlling T cell differentiation and inflammatory responses 5. The enzyme is regulated by mTORC1 signaling through ATF4 transcription factor activation 2. Clinically, MTHFD2 represents a promising therapeutic target, as its inhibition shows anticancer effects and can overcome drug resistance mechanisms, including sunitinib resistance in renal cell carcinoma 67.

Sources cited
1
MTHFD2 catalyzes key reactions in mitochondrial one-carbon metabolism
PMID: 27641100
2
MTHFD2 supports de novo purine synthesis and is regulated by mTORC1 signaling
PMID: 26912861
3
MTHFD2 contributes to mitochondrial tRNA methylation required for mitochondrial translation
PMID: 29364879
4
MTHFD2 promotes O-GlcNAcylation and PD-L1 expression through non-metabolic signaling functions
PMID: 33782411
5
MTHFD2 serves as a metabolic checkpoint controlling T cell differentiation and inflammatory responses
PMID: 34767747
6
MTHFD2 mediates sunitinib resistance in renal cell carcinoma
PMID: 39804969
7
MTHFD2 represents a promising therapeutic target in cancer treatment
PMID: 37922465
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.40Weak
sign or symptomOpen Targets
0.27Weak
cancerOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.10Weak
acute myeloid leukemiaOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.10Suggestive
ovarian cancerOpen Targets
0.09Suggestive
esophageal squamous cell carcinomaOpen Targets
0.09Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
bladder transitional cell carcinomaOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.07Suggestive
urinary bladder carcinomaOpen Targets
0.07Suggestive
neuroblastomaOpen Targets
0.07Suggestive
lung cancerOpen Targets
0.07Suggestive
renal cell carcinomaOpen Targets
0.06Suggestive
hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADSLProtein interaction100%ASNSProtein interaction100%ATICProtein interaction99%GLDCProtein interaction99%MTHFRProtein interaction99%PPATProtein interaction99%
Tissue Expression6 tissues
Brain
100%
Lung
54%
Heart
23%
Bone Marrow
22%
Ovary
14%
Liver
3%
Gene Interaction Network
Click a node to explore
MTHFD2ADSLASNSATICGLDCMTHFRPPAT
PROTEIN STRUCTURE
Preparing viewer…
PDB5TC4 · 1.89 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.98LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.68 [0.47–0.98]
RankingsWhere MTHFD2 stands among ~20K protein-coding genes
  • #3,343of 20,598
    Most Researched138 · top quartile
  • #9,403of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedMTHFD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
One-Carbon Metabolism in Health and Disease.
PMID: 27641100
Cell Metab · 2017
1.00
2
MTHFD2 is a metabolic checkpoint controlling effector and regulatory T cell fate and function.
PMID: 34767747
Immunity · 2022
0.90
3
Characterizing mitochondrial features in osteoarthritis through integrative multi-omics and machine learning analysis.
PMID: 39026663
Front Immunol · 2024
0.80
4
Targeting MTHFD2 to Exploit Cancer-Specific Metabolism and the DNA Damage Response.
PMID: 37922465
Cancer Res · 2024
0.70
5
Mitochondrial translation requires folate-dependent tRNA methylation.
PMID: 29364879
Nature · 2018
0.60