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Aliases for MTHFD2L Gene

Aliases for MTHFD2L Gene

  • Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2-Like 2 3
  • NADP-Dependent Methylenetetrahydrofolate Dehydrogenase 2-Like Protein 3 4
  • MTHFD2-Like 3 4
  • Probable Bifunctional Methylenetetrahydrofolate Dehydrogenase/Cyclohydrolase 2 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 One carbon pool by folate. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for MTHFD2L Gene at MOPED

Post-translational modifications for MTHFD2L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTHFD2L Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MTHFD2L

No data available for DME Specific Peptides for MTHFD2L Gene

Domains 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 --
GO:0004329 NOT formate-tetrahydrofolate ligase activity IBA --
GO:0004477 methenyltetrahydrofolate cyclohydrolase activity IBA --
GO:0004487 methylenetetrahydrofolate dehydrogenase (NAD+) activity IBA --
GO:0004488 methylenetetrahydrofolate dehydrogenase (NADP+) activity IBA --
genes like me logo Genes that share ontologies with MTHFD2L: view

Animal Model Products

CRISPR Products

miRNA for MTHFD2L Gene

miRTarBase miRNAs that target MTHFD2L

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , 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
nucleus 1

Gene Ontology (GO) - Cellular Components for MTHFD2L Gene

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

Pathways for MTHFD2L Gene

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

Pathways by source for MTHFD2L Gene

1 BioSystems pathway for MTHFD2L Gene
2 KEGG pathways for MTHFD2L Gene

UniProtKB/Swiss-Prot Q9H903-MTD2L_HUMAN

  • Pathway: One-carbon metabolism; tetrahydrofolate interconversion

Interacting Proteins for MTHFD2L Gene

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 IBA --
GO:0009086 methionine biosynthetic process IEA --
GO:0009396 folic acid-containing compound biosynthetic process IEA --
genes like me logo Genes that share ontologies with MTHFD2L: view

Drugs for MTHFD2L Gene

(8) HMDB Compounds for MTHFD2L Gene

Compound Synonyms Cas Number PubMed IDs
  • 10-Formyl-(6RS)-tetrahydrofolic acid
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyl-THF
  • (6R)-5,10-methylenetetrahydrofolate
Hydrogen Ion
  • Hydrogen cation
  • Magnesium
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTHFD2L

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 for MTHFD2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for MTHFD2L Gene

This gene is overexpressed in Amniocyte (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MTHFD2L Gene

SOURCE GeneReport for Unigene cluster for MTHFD2L Gene Hs.721011

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 expressions with MTHFD2L: view

Expression partners for MTHFD2L Gene

* - Elite partner

Primer Products

In Situ Assay 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
(Bos Taurus)
Mammalia MTHFD2L 35
  • 87.99 (n)
  • 89.34 (a)
  • 89 (a)
(Canis familiaris)
Mammalia LOC482197 35
  • 93.44 (n)
  • 96.67 (a)
  • 97 (a)
(Mus musculus)
Mammalia Mthfd2l 35
  • 83.93 (n)
  • 89.94 (a)
Mthfd2l 16
Mthfd2l 36
  • 90 (a)
(Pan troglodytes)
Mammalia MTHFD2L 35
  • 99.51 (n)
  • 99.11 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Mthfd2l 35
  • 83.43 (n)
  • 88.46 (a)
(Monodelphis domestica)
Mammalia MTHFD2L 36
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia MTHFD2L 36
  • 75 (a)
(Gallus gallus)
Aves MTHFD2L 35
  • 74.9 (n)
  • 78.35 (a)
  • 76 (a)
(Anolis carolinensis)
Reptilia MTHFD2L 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfd2l 35
  • 74.44 (n)
  • 80 (a)
(Danio rerio)
Actinopterygii mthfd2l 36
  • 60 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nmdmc 36
  • 52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE3 36
  • 13 (a)
MTD1 38
Species with no ortholog for MTHFD2L:
  • 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: Pseudogenes for MTHFD2L Gene

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 MAF
rs472689 -- 74,160,351(+) AAAAA(A/G)TATCT intron-variant
rs474734 -- 74,153,519(-) ATCAG(C/G)GATGA intron-variant
rs475092 -- 74,196,622(+) CAAAG(A/G)CAATT intron-variant
rs475236 -- 74,208,414(-) ATAGT(C/G)CCAGT intron-variant
rs476556 -- 74,211,349(+) ttgag(A/G)tacgt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv525980 CNV Gain 19592680
esv2662787 CNV Deletion 23128226
nsv437397 CNV Loss 16327808
esv29295 CNV Loss 19812545
esv2421669 CNV Deletion 20811451
nsv441890 CNV CNV 18776908
esv998628 CNV Insertion 20482838
nsv509908 CNV Loss 20534489
esv8809 CNV Gain 19470904

Relevant External Links for MTHFD2L Gene

HapMap Linkage Disequilibrium report

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

No disorders were found for MTHFD2L Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  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
  5. Quantitative Lys-I/-Gly-Gly (diGly) proteomics coupled with inducible RNAi reveals ubiquitin-mediated proteolysis of DNA damage-inducible transcript 4 (DDIT4) by the E3 ligase HUWE1. (PMID: 25147182) Thompson J.W. … Luchansky S.J. (J. Biol. Chem. 2014) 3

Products for MTHFD2L Gene

Sources for MTHFD2L Gene

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