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Aliases for MTHFD2 Gene

Aliases for MTHFD2 Gene

  • Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2, Methenyltetrahydrofolate Cyclohydrolase 2 3
  • NMDMC 3 4
  • Bifunctional Methylenetetrahydrofolate Dehydrogenase/Cyclohydrolase, Mitochondrial 3
  • NAD-Dependent Methylene Tetrahydrofolate Dehydrogenase Cyclohydrolase 3

External Ids for MTHFD2 Gene

Previous GeneCards Identifiers for MTHFD2 Gene

  • GC02P074563
  • GC02P074638
  • GC02P074383
  • GC02P074400
  • GC02P074337
  • GC02P074095
  • GC02P074425
  • GC02P074161

Summaries for MTHFD2 Gene

Entrez Gene Summary for MTHFD2 Gene

  • 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 magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009]

GeneCards Summary for MTHFD2 Gene

MTHFD2 (Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2, Methenyltetrahydrofolate Cyclohydrolase) is a Protein Coding gene. Among its related pathways are Metabolism and Nucleotide Metabolism. GO annotations related to this gene include magnesium ion binding and formate-tetrahydrofolate ligase activity. An important paralog of this gene is MTHFD1L.

Gene Wiki entry for MTHFD2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTHFD2 Gene

Genomics for MTHFD2 Gene

Regulatory Elements for MTHFD2 Gene

Epigenetics Products

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

Genomic Location for MTHFD2 Gene

Start:
74,198,562 bp from pter
End:
74,217,565 bp from pter
Size:
19,004 bases
Orientation:
Plus strand

Genomic View for MTHFD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MTHFD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTHFD2 Gene

Proteins for MTHFD2 Gene

  • Protein details for MTHFD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13995-MTDC_HUMAN
    Recommended name:
    Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial
    Protein Accession:
    P13995
    Secondary Accessions:
    • Q53G90
    • Q53GV5
    • Q53S36
    • Q7Z650

    Protein attributes for MTHFD2 Gene

    Size:
    350 amino acids
    Molecular mass:
    37895 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer
    Miscellaneous:
    • This NAD-dependent bifunctional enzyme has very different kinetic properties than the larger NADP-dependent trifunctional enzyme and is unique in that it requires formation of an enzyme-magnesium complex to allow binding of NAD
    SequenceCaution:
    • Sequence=AAX93061.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD96546.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD96761.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA34431.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MTHFD2 Gene

    Alternative splice isoforms for MTHFD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTHFD2 Gene

Proteomics data for MTHFD2 Gene at MOPED

Post-translational modifications for MTHFD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTHFD2 Gene

Antibody Products

No data available for DME Specific Peptides for MTHFD2 Gene

Domains for MTHFD2 Gene

Graphical View of Domain Structure for InterPro Entry

P13995

UniProtKB/Swiss-Prot:

MTDC_HUMAN :
  • P13995
Family:
  • Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.
genes like me logo Genes that share domains with MTHFD2: view

No data available for Gene Families for MTHFD2 Gene

Function for MTHFD2 Gene

Molecular function for MTHFD2 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 MTHFD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 8218174
GO:0003824 catalytic activity --
GO:0004329 NOT formate-tetrahydrofolate ligase activity IBA --
GO:0004477 methenyltetrahydrofolate cyclohydrolase activity ISS 8218174
GO:0004487 methylenetetrahydrofolate dehydrogenase (NAD+) activity IDA 8218174
genes like me logo Genes that share ontologies with MTHFD2: view
genes like me logo Genes that share phenotypes with MTHFD2: view

Animal Models for MTHFD2 Gene

MGI Knock Outs for MTHFD2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTHFD2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MTHFD2 Gene

Localization for MTHFD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTHFD2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTHFD2 Gene COMPARTMENTS Subcellular localization image for MTHFD2 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MTHFD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005739 mitochondrion ISS 8218174
GO:0005829 NOT cytosol IBA --
genes like me logo Genes that share ontologies with MTHFD2: view

Pathways for MTHFD2 Gene

genes like me logo Genes that share pathways with MTHFD2: view

Pathways by source for MTHFD2 Gene

Gene Ontology (GO) - Biological Process for MTHFD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IBA --
GO:0009396 folic acid-containing compound biosynthetic process IEA --
GO:0046653 tetrahydrofolate metabolic process IDA 8218174
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with MTHFD2: view

Compounds for MTHFD2 Gene

(13) HMDB Compounds for MTHFD2 Gene

Compound Synonyms Cas Number PubMed IDs
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyltetrahydrofolate
7444-29-3
5,10-Methylene-THF
  • 5,10-methylene-THF
31690-11-6
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Formic acid
  • Add-F
64-18-6

(2) Drugbank Compounds for MTHFD2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target
Tetrahydrofolic acid
  • 5,6,7,8-tetrahydrofolate
135-16-0 target cofactor
genes like me logo Genes that share compounds with MTHFD2: view

Transcripts for MTHFD2 Gene

Unigene Clusters for MTHFD2 Gene

Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTHFD2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MTHFD2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTHFD2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b · 11c
SP1: - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5:
SP6: - - -
SP7: - - - - - - - - - - - -
SP8:

Relevant External Links for MTHFD2 Gene

GeneLoc Exon Structure for
MTHFD2
ECgene alternative splicing isoforms for
MTHFD2

Expression for MTHFD2 Gene

mRNA expression in normal human tissues for MTHFD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTHFD2 Gene

SOURCE GeneReport for Unigene cluster for MTHFD2 Gene Hs.469030

genes like me logo Genes that share expressions with MTHFD2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MTHFD2 Gene

Orthologs for MTHFD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTHFD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTHFD2 35
  • 99.43 (n)
  • 99.71 (a)
MTHFD2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTHFD2 35
  • 89.33 (n)
  • 90.86 (a)
MTHFD2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTHFD2 35
  • 89.81 (n)
  • 92.29 (a)
MTHFD2 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mthfd2 35
  • 85.62 (n)
  • 92 (a)
Mthfd2 16
Mthfd2 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 83 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Mthfd2 35
  • 84.53 (n)
  • 90.83 (a)
chicken
(Gallus gallus)
Aves MTHFD2 35
  • 77.53 (n)
  • 85.58 (a)
MTHFD2 36
  • 82 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 80 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfd2 35
  • 74.45 (n)
  • 84.74 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101886265 35
  • 70.23 (n)
  • 81.55 (a)
mthfd2 36
  • 76 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004677 35
  • 62.01 (n)
  • 61.69 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nmdmc 35
  • 57.21 (n)
  • 57.43 (a)
Nmdmc 36
  • 57 (a)
OneToMany
Nmdmc 37
  • 56 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE3 36
  • 13 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.8473 35
rice
(Oryza sativa)
Liliopsida Os.7067 35
wheat
(Triticum aestivum)
Liliopsida Ta.3377 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.890 35
Species with no ortholog for MTHFD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MTHFD2 Gene

ENSEMBL:
Gene Tree for MTHFD2 (if available)
TreeFam:
Gene Tree for MTHFD2 (if available)

Paralogs for MTHFD2 Gene

Paralogs for MTHFD2 Gene

Selected SIMAP similar genes for MTHFD2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with MTHFD2: view

Variants for MTHFD2 Gene

Sequence variations from dbSNP and Humsavar for MTHFD2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs8001 -- 74,215,280(-) TACCA(C/T)ACCAG utr-variant-3-prime, nc-transcript-variant
rs12196 -- 74,214,672(-) TTCCC(C/T)AATTT utr-variant-3-prime, nc-transcript-variant
rs15132 -- 74,215,228(+) TCAGA(C/T)TTTCT utr-variant-3-prime, nc-transcript-variant
rs828853 -- 74,215,304(-) GGAAG(A/C)CAGAA downstream-variant-500B
rs828903 -- 74,209,594(+) gtttc(A/G)tcatg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTHFD2 Gene

Variant ID Type Subtype PubMed ID
nsv874286 CNV Loss 21882294
nsv834261 CNV Loss 17160897

Relevant External Links for MTHFD2 Gene

HapMap Linkage Disequilibrium report
MTHFD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTHFD2 Gene

Disorders for MTHFD2 Gene

Relevant External Links for MTHFD2

Genetic Association Database (GAD)
MTHFD2
Human Genome Epidemiology (HuGE) Navigator
MTHFD2
genes like me logo Genes that share disorders with MTHFD2: view

No data available for UniProtKB/Swiss-Prot for MTHFD2 Gene

Publications for MTHFD2 Gene

  1. Nucleotide sequence of the human NAD-dependent methylene tetrahydrofolate dehydrogenase-cyclohydrolase. (PMID: 2587219) Peri K.G. … Mackenzie R.E. (Nucleic Acids Res. 1989) 2 3 4
  2. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PMID: 18676680) Hosgood H.D. … Lan Q. (Carcinogenesis 2008) 3 48
  3. Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma. (PMID: 18830263) Wang S.S. … Cerhan J.R. (Leukemia 2009) 3 48
  4. Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. (PMID: 19048631) Boyles A.L. … Lie R.T. (Genet. Epidemiol. 2009) 3 48
  5. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PMID: 19161160) Franke B. … Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009) 3 48

Products for MTHFD2 Gene

Sources for MTHFD2 Gene

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