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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MTHFD2L
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like
Chromosome 4 · 4q13.3
NCBI Gene: 441024Ensembl: ENSG00000163738.20HGNC: HGNC:31865UniProt: Q9H903
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein bindingmethylenetetrahydrofolate dehydrogenase (NAD+) activitymethylenetetrahydrofolate dehydrogenase (NADP+) activityjoint diseaseandrogenetic alopeciaresponse to allogeneic hematopoietic stem cell transplantresponse to vaccine
✦AI Summary

MTHFD2L is a bifunctional mitochondrial enzyme catalyzing both methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities in one-carbon (1C) metabolism 1. Unlike its paralog MTHFD2, MTHFD2L exhibits dual redox cofactor specificity, utilizing both NAD+ and NADP+ 2, and is constitutively expressed in normal adult tissues 3. Unlike the cancer-associated MTHFD2, MTHFD2L shows no association with proliferation or growth factor stimulation, making it unsuitable as a cancer drug target 3. However, MTHFD2L demonstrates emerging clinical significance in neurodegenerative disease. Genetic variations in MTHFD2L are linked to Alzheimer's disease (AD) risk, and enhancing mitochondrial 1C metabolism through MTHFD2L orthologs improves mitochondrial function and provides neuroprotection in AD models 4. Additionally, a circular RNA-encoded peptide from MTHFD2L (CM-248aa) suppresses gastric cancer progression through SET-PP2A pathway inhibition, though this represents a non-canonical function 5. MTHFD2L's role in maintaining mitochondrial redox homeostasis and cellular metabolism positions it as a potential therapeutic target for neurodegenerative diseases rather than cancer.

Sources cited
1
MTHFD2L is a bifunctional mitochondrial folate-interconverting enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities; structural basis for enzyme inhibition
PMID: 35712863
2
MTHFD2L exhibits dual redox cofactor specificity, utilizing both NAD+ and NADP+ at physiologically relevant conditions
PMID: 29225823
3
MTHFD2L is constitutively expressed in normal and cancer cells; does not show association with proliferation, growth factor stimulation, or cancer development
PMID: 31377316
4
Genetic variations in MTHFD2L are linked to Alzheimer's disease risk; enhancing mitochondrial 1C metabolism through MTHFD2L is neuroprotective in AD models
PMID: 39582067
5
A circular RNA-encoded MTHFD2L peptide (CM-248aa) suppresses gastric cancer progression through SET-PP2A pathway inhibition
PMID: 37101395
6
MTHFD2L should not be considered as a drug target for cancer treatment; MTHFD2 is the preferred mitochondrial target
PMID: 33664451
Disease Associationsⓘ20
joint diseaseOpen Targets
0.20Weak
androgenetic alopeciaOpen Targets
0.16Weak
response to allogeneic hematopoietic stem cell transplantOpen Targets
0.14Weak
response to vaccineOpen Targets
0.10Suggestive
functional neutrophil defectOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
breast fibrocystic diseaseOpen Targets
0.03Suggestive
brain aneurysmOpen Targets
0.03Suggestive
placental retentionOpen Targets
0.03Suggestive
Precordial painOpen Targets
0.03Suggestive
breast diseaseOpen Targets
0.02Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
neural tube defectOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.01Suggestive
whooping coughOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
pulmonary arterial hypertensionOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADSLProtein interaction100%TYMSProtein interaction99%IBA57Protein interaction99%ATICProtein interaction99%GLDCProtein interaction99%AMTProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
98%
Heart
47%
Ovary
32%
Brain
32%
Lung
24%
Gene Interaction Network
Click a node to explore
MTHFD2LADSLTYMSIBA57ATICGLDCAMT
PROTEIN STRUCTURE
Preparing viewer…
PDB7QEI · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.58–1.19]
RankingsWhere MTHFD2L stands among ~20K protein-coding genes
  • #16,505of 20,598
    Most Researched12
  • #12,498of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedMTHFD2L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The First Structure of Human MTHFD2L and Its Implications for the Development of Isoform-Selective Inhibitors.
PMID: 35712863
ChemMedChem · 2022
1.00
2
Circular MTHFD2L RNA-encoded CM-248aa inhibits gastric cancer progression by targeting the SET-PP2A interaction.
PMID: 37101395
Mol Ther · 2023
0.90
3
Enhancing mitochondrial one-carbon metabolism is neuroprotective in Alzheimer's disease models.
PMID: 39582067
Cell Death Dis · 2024
0.80
4
Mitochondrial MTHFD isozymes display distinct expression, regulation, and association with cancer.
PMID: 31377316
Gene · 2019
0.70
5
Selectivity analysis of diaminopyrimidine-based inhibitors of MTHFD1, MTHFD2 and MTHFD2L.
PMID: 39256448
Sci Rep · 2024
0.60