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Aliases for MTHFD2L Gene

Aliases for MTHFD2L Gene

  • Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2-Like 2 3 5
  • NADP-Dependent Methylenetetrahydrofolate Dehydrogenase 2-Like Protein 3 4
  • MTHFD2-Like 3 4
  • Probable Bifunctional Methylenetetrahydrofolate Dehydrogenase/Cyclohydrolase 2 3
  • Tetrahydrofolate Dehydrogenase/Cyclohydrolase 3

External Ids for MTHFD2L Gene

Previous GeneCards Identifiers for MTHFD2L Gene

  • GC04P075358
  • GC04P075207
  • GC04P074979
  • GC04P070834

Summaries for MTHFD2L Gene

GeneCards Summary for MTHFD2L Gene

MTHFD2L (Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2-Like) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include formate-tetrahydrofolate ligase activity and methylenetetrahydrofolate dehydrogenase (NADP+) activity. An important paralog of this gene is MTHFD2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTHFD2L Gene

Genomics for MTHFD2L Gene

Regulatory Elements for MTHFD2L Gene

Enhancers for MTHFD2L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F074018 1.5 FANTOM5 Ensembl ENCODE 14.1 -95.6 -95562 1.2 ZNF263 PKNOX1 WT1 TRIM28 CXCL2 CXCL3 EREG CXCL8 MTHFD2L PPBP RN7SL218P LOC105377275
GH04F074016 1.5 FANTOM5 Ensembl ENCODE 14.1 -97.7 -97674 1.0 MTA2 TBX21 SPI1 CXCL2 CXCL3 EREG CXCL8 MTHFD2L PPBP RN7SL218P LOC105377275
GH04F073682 1.7 FANTOM5 Ensembl ENCODE 14 -430.8 -430832 2.2 JUND TEAD4 CEBPB KDM1A CXCL8 CXCL3 CXCL2 MTHFD2L PF4V1 LOC105377272 CXCL5 RASSF6
GH04F073660 1.2 FANTOM5 Ensembl ENCODE 13.5 -451.8 -451778 3.3 CTCF ATF1 JUN RAD21 YY1 ZNF664 SMC3 FOS MAFK ZNF654 CXCL3 CXCL2 CXCL8 RASSF6 MTHFD2L PF4V1 LOC105377272
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MTHFD2L on UCSC Golden Path with GeneCards custom track

Genomic Location for MTHFD2L Gene

74,114,174 bp from pter
74,303,099 bp from pter
188,926 bases
Plus strand

Genomic View for MTHFD2L Gene

Genes around MTHFD2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTHFD2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTHFD2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTHFD2L Gene

Proteins for MTHFD2L Gene

  • Protein details for MTHFD2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2
    Protein Accession:
    Secondary Accessions:
    • Q6P079
    • Q8N560

    Protein attributes for MTHFD2L Gene

    347 amino acids
    Molecular mass:
    37315 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    • Sequence=AAH32771.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14441.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for MTHFD2L Gene


neXtProt entry for MTHFD2L Gene

Post-translational modifications for MTHFD2L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTHFD2L Gene

Domains & Families for MTHFD2L Gene

Suggested Antigen Peptide Sequences for MTHFD2L Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.
  • Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.
genes like me logo Genes that share domains with MTHFD2L: view

No data available for Gene Families for MTHFD2L Gene

Function for MTHFD2L Gene

Molecular function for MTHFD2L Gene

UniProtKB/Swiss-Prot CatalyticActivity:
5,10-methylenetetrahydrofolate + NAD(+) = 5,10-methenyltetrahydrofolate + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
5,10-methenyltetrahydrofolate + H(2)O = 10-formyltetrahydrofolate.

Gene Ontology (GO) - Molecular Function for MTHFD2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004329 NOT formate-tetrahydrofolate ligase activity IBA --
GO:0004477 methenyltetrahydrofolate cyclohydrolase activity TAS --
GO:0004487 methylenetetrahydrofolate dehydrogenase (NAD+) activity TAS --
GO:0004488 methylenetetrahydrofolate dehydrogenase (NADP+) activity IEA,IBA --
genes like me logo Genes that share ontologies with MTHFD2L: view
genes like me logo Genes that share phenotypes with MTHFD2L: view

Animal Models for MTHFD2L Gene

MGI Knock Outs for MTHFD2L:

Animal Model Products

miRNA for MTHFD2L Gene

miRTarBase miRNAs that target MTHFD2L

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTHFD2L Gene

Localization for MTHFD2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTHFD2L Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

Jensen Localization Image for MTHFD2L Gene COMPARTMENTS Subcellular localization image for MTHFD2L gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for MTHFD2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IBA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 NOT cytosol IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MTHFD2L: view

Pathways & Interactions for MTHFD2L Gene

genes like me logo Genes that share pathways with MTHFD2L: view

Pathways by source for MTHFD2L Gene

UniProtKB/Swiss-Prot Q9H903-MTD2L_HUMAN

  • Pathway: One-carbon metabolism; tetrahydrofolate interconversion.

Gene Ontology (GO) - Biological Process for MTHFD2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000105 histidine biosynthetic process IEA --
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0006730 one-carbon metabolic process IEA,IBA --
GO:0008152 metabolic process IEA --
GO:0008652 cellular amino acid biosynthetic process IEA --
genes like me logo Genes that share ontologies with MTHFD2L: view

No data available for SIGNOR curated interactions for MTHFD2L Gene

Drugs & Compounds for MTHFD2L Gene

(4) Drugs for MTHFD2L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
NAD Pharma Full agonist, Agonist 0
Magnesium Nutra 0
NADH Nutra 0

(4) Additional Compounds for MTHFD2L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 10-Formyl-(6RS)-tetrahydrofolic acid
  • 10-Formyl-H4PteGlu1
  • 10-Formyl-tetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolate
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyl-THF
  • 5,10-Methenyltetrahydrofolate
  • Anhydro-leucovorin
  • Anhydro-leucovorin a
  • Anhydroleucovorin
  • (6R)-5,10-methylenetetrahydrofolate
  • 5,10-Methenyltetrahydropteroylglutamate
  • 5,10-Methylene-6-Hydrofolate
  • 5,10-Methylene-6-Hydrofolic acid
  • 5,10-Methylene-THF
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with MTHFD2L: view

Transcripts for MTHFD2L Gene

Unigene Clusters for MTHFD2L Gene

Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTHFD2L Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - -
SP2: - -
SP5: -

Relevant External Links for MTHFD2L Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MTHFD2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTHFD2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTHFD2L Gene

This gene is overexpressed in Amniocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MTHFD2L Gene

Protein tissue co-expression partners for MTHFD2L Gene

NURSA nuclear receptor signaling pathways regulating expression of MTHFD2L Gene:


SOURCE GeneReport for Unigene cluster for MTHFD2L Gene:


mRNA Expression by UniProt/SwissProt for MTHFD2L Gene:

Tissue specificity: Isoform 1, isoform 4 and isoform 5 are expressed in brain and placenta.
genes like me logo Genes that share expression patterns with MTHFD2L: view

Primer Products

No data available for mRNA differential expression in normal tissues for MTHFD2L Gene

Orthologs for MTHFD2L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MTHFD2L Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MTHFD2L 34 35
  • 99.51 (n)
(Canis familiaris)
Mammalia MTHFD2L 35
  • 97 (a)
LOC482197 34
  • 93.44 (n)
(Monodelphis domestica)
Mammalia MTHFD2L 35
  • 88 (a)
(Bos Taurus)
Mammalia MTHFD2L 34 35
  • 87.99 (n)
(Mus musculus)
Mammalia Mthfd2l 34 16 35
  • 83.93 (n)
(Rattus norvegicus)
Mammalia Mthfd2l 34
  • 83.43 (n)
(Ornithorhynchus anatinus)
Mammalia MTHFD2L 35
  • 75 (a)
(Gallus gallus)
Aves MTHFD2L 34 35
  • 74.9 (n)
(Anolis carolinensis)
Reptilia MTHFD2L 35
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfd2l 34
  • 74.44 (n)
(Danio rerio)
Actinopterygii mthfd2l 35
  • 60 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nmdmc 35
  • 52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE3 35
  • 13 (a)
MTD1 37
Species where no ortholog for MTHFD2L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MTHFD2L Gene

Gene Tree for MTHFD2L (if available)
Gene Tree for MTHFD2L (if available)

Paralogs for MTHFD2L Gene

Paralogs for MTHFD2L Gene

(4) SIMAP similar genes for MTHFD2L Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MTHFD2L: view

Variants for MTHFD2L Gene

Sequence variations from dbSNP and Humsavar for MTHFD2L Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10003785 -- 74,164,435(+) TAAGG(G/T)GGTTA intron-variant
rs10006334 -- 74,250,633(+) TTCTG(C/T)GTGCA intron-variant
rs10006685 -- 74,296,207(+) gacct(C/T)gattg intron-variant
rs10008940 -- 74,163,897(+) TTGAG(A/G)CAGAG intron-variant
rs10009707 -- 74,266,931(+) CTGGC(C/T)TTCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTHFD2L Gene

Variant ID Type Subtype PubMed ID
dgv5320n100 CNV loss 25217958
dgv9134n54 CNV loss 21841781
esv2421669 CNV deletion 20811451
esv2662787 CNV deletion 23128226
esv2760892 CNV loss 21179565
esv29295 CNV loss 19812545
esv3360374 CNV insertion 20981092
esv3569519 CNV loss 25503493
esv3601011 CNV loss 21293372
esv3601012 CNV loss 21293372
esv8809 CNV gain 19470904
esv998628 CNV insertion 20482838
nsv1004768 CNV gain 25217958
nsv1009099 CNV gain 25217958
nsv1111274 CNV tandem duplication 24896259
nsv1136876 CNV deletion 24896259
nsv1143096 CNV tandem duplication 24896259
nsv437397 CNV loss 16327808
nsv441890 CNV loss 18776908
nsv509908 OTHER sequence alteration 20534489
nsv525980 CNV gain 19592680
nsv967763 CNV duplication 23825009

Variation tolerance for MTHFD2L Gene

Residual Variation Intolerance Score: 62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 21.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTHFD2L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTHFD2L Gene

Disorders for MTHFD2L Gene

Relevant External Links for MTHFD2L

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for MTHFD2L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTHFD2L Gene

Publications for MTHFD2L Gene

  1. Mammalian MTHFD2L encodes a mitochondrial methylenetetrahydrofolate dehydrogenase isozyme expressed in adult tissues. (PMID: 21163947) Bolusani S. … Appling D.R. (J. Biol. Chem. 2011) 2 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PMID: 22610502) Kennedy R.B. … Poland G.A. (Hum. Genet. 2012) 3 64
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4 64

Products for MTHFD2L Gene

Sources for MTHFD2L Gene

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