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Aliases for MTHFR Gene

Aliases for MTHFR Gene

  • Methylenetetrahydrofolate Reductase (NAD(P)H) 2 3
  • EC 1.5.1.20 4 63
  • 5,10-Methylenetetrahydrofolate Reductase (NADPH) 2

External Ids for MTHFR Gene

Summaries for MTHFR Gene

Entrez Gene Summary for MTHFR Gene

  • The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

GeneCards Summary for MTHFR Gene

MTHFR (Methylenetetrahydrofolate Reductase (NAD(P)H)) is a Protein Coding gene. Diseases associated with MTHFR include homocystinuria due to mthfr deficiency and anencephaly. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include modified amino acid binding and methylenetetrahydrofolate reductase (NAD(P)H) activity.

UniProtKB/Swiss-Prot for MTHFR Gene

  • Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine

Gene Wiki entry for MTHFR Gene

PharmGKB "VIP" Summary for MTHFR Gene

No data available for Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for MTHFR Gene

Genomics for MTHFR Gene

Genomic Location for MTHFR Gene

Start:
11,785,723 bp from pter
End:
11,806,920 bp from pter
Size:
21,198 bases
Orientation:
Minus strand

Genomic View for MTHFR Gene

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

RefSeq DNA sequence for MTHFR Gene

Regulatory Elements for MTHFR Gene

Transcription factor binding sites by QIAGEN in the MTHFR gene promoter:

Proteins for MTHFR Gene

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

    Protein Symbol:
    P42898-MTHR_HUMAN
    Recommended name:
    Methylenetetrahydrofolate reductase
    Protein Accession:
    P42898
    Secondary Accessions:
    • B2R7A6
    • Q5SNW6
    • Q5SNW9
    • Q7Z6M6
    • Q8IU73
    • Q9UQR2

    Protein attributes for MTHFR Gene

    Size:
    656 amino acids
    Molecular mass:
    74597 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homodimer

    Alternative splice isoforms for MTHFR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTHFR Gene

Proteomics data for MTHFR Gene at MOPED

Post-translational modifications for MTHFR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTHFR Gene

Domains for MTHFR Gene

Protein Domains for MTHFR Gene

Graphical View of Domain Structure for InterPro Entry

P42898

UniProtKB/Swiss-Prot:

MTHR_HUMAN
Family:
  • Belongs to the methylenetetrahydrofolate reductase family.:
    • P42898
genes like me logo Genes that share domains with MTHFR: view

No data available for Gene Families for MTHFR Gene

Function for MTHFR Gene

Molecular function for MTHFR Gene

GENATLAS Biochemistry: 5-10 methylenetetrahydrofolate (THF) reductase,NADPH dependent,70kDa,reducing 5-10 methylene THF to,5 methyl-THF for methionine biosynthesis,with a common variant putatively involved in occlusive vascular disease,neural tube defects,colon cancer and adult akute leukemia. And a mutation responsible of increased mortality risk in men in middle and old age
UniProtKB/Swiss-Prot CatalyticActivity: 5-methyltetrahydrofolate + NAD(P)(+) = 5,10-methylenetetrahydrofolate + NAD(P)H
UniProtKB/Swiss-Prot EnzymeRegulation: Allosterically regulated by S-adenosylmethionine
UniProtKB/Swiss-Prot Function: Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine

Enzyme Numbers (IUBMB) for MTHFR Gene

Gene Ontology (GO) - Molecular Function for MTHFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004489 methylenetetrahydrofolate reductase (NAD(P)H) activity TAS --
GO:0032403 protein complex binding IPI 24769206
GO:0050660 flavin adenine dinucleotide binding IDA 12673793
GO:0050661 NADP binding IEA --
GO:0072341 modified amino acid binding IDA 20031578
genes like me logo Genes that share ontologies with MTHFR: view
genes like me logo Genes that share phenotypes with MTHFR: view

Animal Models for MTHFR Gene

MGI Knock Outs for MTHFR:

miRNA for MTHFR Gene

miRTarBase miRNAs that target MTHFR

No data available for Transcription Factor Targeting and HOMER Transcription for MTHFR Gene

Localization for MTHFR Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTHFR Gene COMPARTMENTS Subcellular localization image for MTHFR gene
Compartment Confidence
cytosol 4
extracellular 3
nucleus 2
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MTHFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with MTHFR: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MTHFR Gene

Pathways for MTHFR Gene

SuperPathways for MTHFR Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 One carbon pool by folate
3 Metabolism
4 Pyrimidine metabolism
5 Folate Metabolism
genes like me logo Genes that share pathways with MTHFR: view

UniProtKB/Swiss-Prot P42898-MTHR_HUMAN

  • Pathway: One-carbon metabolism; tetrahydrofolate interconversion

Gene Ontology (GO) - Biological Process for MTHFR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006520 cellular amino acid metabolic process TAS 7647779
GO:0006555 methionine metabolic process IGI 10551815
GO:0006730 one-carbon metabolic process IBA --
GO:0006766 vitamin metabolic process TAS --
genes like me logo Genes that share ontologies with MTHFR: view

Compounds for MTHFR Gene

(13) HMDB Compounds for MTHFR Gene

Compound Synonyms Cas Number PubMed IDs
5,10-Methylene-THF
  • 5,10-methylene-THF
31690-11-6
5-Methyltetrahydrofolic acid
  • 5-Methyl tetrahydrofolate
134-35-0
Cyanocobalamin
  • Dimethylbenzimidazoylcobamide
68-19-9
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Menadione
  • Vitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene
58-27-5

(1) Drugbank Compounds for MTHFR Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Tetrahydrofolic acid
  • 5,6,7,8-tetrahydrofolate
135-16-0 target cofactor

(84) Novoseek inferred chemical compound relationships for MTHFR Gene

Compound -log(P) Hits PubMed IDs
homocysteine 96.8 336
folate 96.1 302
5-methyltetrahydrofolate 91.6 111
vitamin b12 90.6 136
methionine 86.8 130
genes like me logo Genes that share compounds with MTHFR: view

Transcripts for MTHFR Gene

Unigene Clusters for MTHFR Gene

Methylenetetrahydrofolate reductase (NAD(P)H):
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^
SP1: - - -
SP2: -
SP3: - - - - - - - -
SP4: - - - - - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - -
SP8: - -
SP9:
SP10: - - - -
SP11: - - -

ExUns: 12 ^ 13 ^ 14 ^ 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for MTHFR Gene

GeneLoc Exon Structure for
MTHFR
ECgene alternative splicing isoforms for
MTHFR

Expression for MTHFR Gene

mRNA expression in normal human tissues for MTHFR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

SOURCE GeneReport for Unigene cluster for MTHFR Gene Hs.214142

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

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

Orthologs for MTHFR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTHFR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTHFR 35
  • 99.54 (n)
  • 99.85 (a)
MTHFR 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTHFR 35
  • 88.53 (n)
  • 90.37 (a)
MTHFR 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTHFR 35
  • 88.74 (n)
  • 90.37 (a)
MTHFR 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mthfr 35
  • 86.78 (n)
  • 90.35 (a)
Mthfr 16
Mthfr 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTHFR 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTHFR 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mthfr 35
  • 85.68 (n)
  • 88.69 (a)
chicken
(Gallus gallus)
Aves MTHFR 35
  • 78.64 (n)
  • 86.08 (a)
MTHFR 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTHFR 36
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia mthfr-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfr 35
  • 71.71 (n)
  • 81.59 (a)
Str.513 35
zebrafish
(Danio rerio)
Actinopterygii mthfr 35
  • 73.9 (n)
  • 80.23 (a)
mthfr 36
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7560 36
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mthf-1 35
  • 53.28 (n)
  • 49.26 (a)
mthf-1 36
  • 45 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR170W 35
  • 54.56 (n)
  • 45.5 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET13 35
  • 51.55 (n)
  • 44.11 (a)
MET13 36
  • 41 (a)
OneToOne
MET13 38
MET13 38
MET13 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09647g 35
  • 49.71 (n)
  • 45.07 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MTHFR1 35
  • 52.03 (n)
  • 45.86 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1973 35
corn
(Zea mays)
Liliopsida Zm.475 35
rice
(Oryza sativa)
Liliopsida Os03g0815200 35
  • 53.58 (n)
  • 46.48 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.1521 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07690 35
  • 55.06 (n)
  • 47.68 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes met9 35
  • 49.52 (n)
  • 44.44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2215 36
  • 60 (a)
OneToOne
Species with no ortholog for MTHFR:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MTHFR Gene

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

Paralogs for MTHFR Gene

Pseudogenes.org Pseudogenes for MTHFR Gene

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

No data available for Paralogs for MTHFR Gene

Variants for MTHFR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MTHFR Gene

P42898-MTHR_HUMAN
Genetic variation in MTHFR influences susceptibility to occlusive vascular disease, neural tube defects (NTD), colon cancer and acute leukemia

Sequence variations from dbSNP and Humsavar for MTHFR Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1413355 -- 11,802,878(-) AAGGT(A/G)AACTC intron-variant
rs1476413 -- 11,792,243(-) TACCA(A/G)GCCCT intron-variant
rs1572151 -- 11,797,654(-) CCATT(A/G)GAAAC intron-variant
rs1801131 other, - 11,794,419(-) TGAAG(A/C)AAGTG reference, missense
rs1801133 Uncertain significance, - 11,796,321(-) GGGAG(C/T)CGATT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv871014 CNV Gain 21882294
dgv140n71 CNV Loss 21882294
nsv871919 CNV Loss 21882294
dgv141n71 CNV Loss 21882294
nsv518652 CNV Loss 19592680

Relevant External Links for MTHFR Gene

HapMap Linkage Disequilibrium report
MTHFR
Human Gene Mutation Database (HGMD)
MTHFR

Disorders for MTHFR Gene

(4) OMIM Diseases for MTHFR Gene (607093)

UniProtKB/Swiss-Prot

MTHR_HUMAN
  • Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]: Autosomal recessive disorder with a wide range of features including homocysteinuria, homocysteinemia [MIM:603174], developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. {ECO:0000269 PubMed:10679944, ECO:0000269 PubMed:7726158, ECO:0000269 PubMed:8940272, ECO:0000269 PubMed:9781030}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269 PubMed:15534175}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Folate-sensitive neural tube defects (FS-NTD) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269 PubMed:10323741, ECO:0000269 PubMed:7564788, ECO:0000269 PubMed:8826441}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(94) Novoseek inferred disease relationships for MTHFR Gene

Disease -log(P) Hits PubMed IDs
hyperhomocysteinemia 95.5 141
methylenetetrahydrofolate reductase deficiency 93.1 50
thrombophilia 86.5 54
neural tube defects 86.2 81
folate deficiency 82.9 33

Relevant External Links for MTHFR

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

Publications for MTHFR Gene

  1. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. (PMID: 7920641) Goyette P. … Rozen R. (Nat. Genet. 1994) 2 3 4 23
  2. Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults. (PMID: 10536004) Skibola C.F. … Morgan G. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 4 23 48
  3. Mutations in the genes regulating methylene tetrahydrofolate reductase (MTHFR C-->T677) and cystathione beta-synthase (CBS G-->A919, CBS T-->c833) are not associated with myocardial infarction in African Americans. (PMID: 11457468) Dilley A. … Evatt B.L. (Thromb. Res. 2001) 3 23 25 48
  4. Serum homocysteine, thermolabile variant of methylene tetrahydrofolate reductase (MTHFR), and venous thromboembolism: Longitudinal Investigation of Thromboembolism Etiology (LITE). (PMID: 12605391) Tsai A.W. … Folsom A.R. (Am. J. Hematol. 2003) 3 23 25 48
  5. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. (PMID: 10679944) Sibani S. … Rozen R. (Hum. Mutat. 2000) 3 4 23

Products for MTHFR Gene

  • antibodies-online proteins for MTHFR
  • antibodies-online antibodies for MTHFR
  • antibodies-online kits for MTHFR

Sources for MTHFR Gene

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