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Aliases for MTHFR Gene

Aliases for MTHFR Gene

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

External Ids for MTHFR Gene

Previous GeneCards Identifiers for MTHFR Gene

  • GC01U990112
  • GC01M011694
  • GC01M011459
  • GC01M011556
  • GC01M011780
  • GC01M011000

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 Thrombophilia Due To Thrombin Defect. Among its related pathways are Folate-Alcohol and Cancer Pathway and Carbon metabolism. GO annotations related to this gene include protein complex binding and NADP binding.

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

Regulatory Elements for MTHFR Gene

Enhancers for MTHFR Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MTHFR on UCSC Golden Path with GeneCards custom track

Promoters for MTHFR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MTHFR on UCSC Golden Path with GeneCards custom track

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

Genomic Location for MTHFR Gene

Chromosome:
1
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

Genes around MTHFR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MTHFR Gene

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

Antibody Products

Domains & Families for MTHFR Gene

Protein Domains for MTHFR Gene

Graphical View of Domain Structure for InterPro Entry

P42898

UniProtKB/Swiss-Prot:

MTHR_HUMAN :
  • Belongs to the methylenetetrahydrofolate reductase family.
Family:
  • Belongs to the methylenetetrahydrofolate reductase family.
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:0050661 NADP binding IEA --
genes like me logo Genes that share ontologies with MTHFR: view
genes like me logo Genes that share phenotypes with MTHFR: view

Human Phenotype Ontology for MTHFR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTHFR Gene

MGI Knock Outs for MTHFR:

Animal Model Products

No data available for Transcription Factor Targets 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 5
nucleus 3
extracellular 2
mitochondrion 2
plasma membrane 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MTHFR Gene

Pathways & Interactions for MTHFR Gene

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 IEA,IGI 10551815
GO:0006766 vitamin metabolic process TAS --
GO:0035999 tetrahydrofolate interconversion IMP 12673793
genes like me logo Genes that share ontologies with MTHFR: view

No data available for SIGNOR curated interactions for MTHFR Gene

Drugs & Compounds for MTHFR Gene

(85) Drugs for MTHFR Gene - From: DrugBank, PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyanocobalamin Approved Nutra Target, cofactor 234
Folic Acid Approved Nutra Enzyme, substrate 4079
Benazepril Approved, Investigational Pharma Enzyme, substrate 45
Methotrexate Approved Pharma Enzyme, substrate Folate antagonist,inhibits DFHR, Cytotoxic agent 1466
Riboflavin Approved Nutra Enzyme, cofactor 150

(38) Additional Compounds for MTHFR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,10-Methylene-THF
  • (6R)-5,10-methylenetetrahydrofolate
  • 5,10-Methenyltetrahydropteroylglutamate
  • 5,10-Methylene-6-Hydrofolate
  • 5,10-Methylene-6-Hydrofolic acid
  • 5,10-Methylene-THF
31690-11-6
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
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

Protein differential expression in normal tissues from HIPED for MTHFR Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.7), Lymph node (15.8), and Stomach (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MTHFR: view

Protein tissue co-expression partners for MTHFR Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia MTHFR 35
  • 99.54 (n)
  • 99.85 (a)
MTHFR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mthfr 35
  • 85.68 (n)
  • 88.69 (a)
oppossum
(Monodelphis domestica)
Mammalia MTHFR 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTHFR 36
  • 86 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfr 35
  • 71.71 (n)
  • 81.59 (a)
Str.513 35
African clawed frog
(Xenopus laevis)
Amphibia mthfr-prov 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)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09647g 35
  • 49.71 (n)
  • 45.07 (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
thale cress
(Arabidopsis thaliana)
eudicotyledons MTHFR1 35
  • 52.03 (n)
  • 45.86 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1973 35
rice
(Oryza sativa)
Liliopsida Os03g0815200 35
  • 53.58 (n)
  • 46.48 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.1521 35
corn
(Zea mays)
Liliopsida Zm.475 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

MTHR_HUMAN-P42898
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
VAR_004319 Methylenetetrahydrofolate reductase deficiency (MTHFRD)
VAR_004320 Methylenetetrahydrofolate reductase deficiency (MTHFRD)
VAR_004321 Methylenetetrahydrofolate reductase deficiency (MTHFRD)
VAR_004322 Methylenetetrahydrofolate reductase deficiency (MTHFRD)
VAR_004323 Methylenetetrahydrofolate reductase deficiency (MTHFRD)

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

Variation tolerance for MTHFR Gene

Residual Variation Intolerance Score: 60% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.52; 95.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTHFR Gene

Human Gene Mutation Database (HGMD)
MTHFR

Disorders for MTHFR Gene

MalaCards: The human disease database

(151) MalaCards diseases for MTHFR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MTHFR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MTHR_HUMAN
  • 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.
  • 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:20236116, ECO:0000269 PubMed:25736335, 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.
  • Neural tube defects, folate-sensitive (NTDFS) [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.

Relevant External Links for MTHFR

Genetic Association Database (GAD)
MTHFR
Human Genome Epidemiology (HuGE) Navigator
MTHFR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTHFR
genes like me logo Genes that share disorders with MTHFR: view

No data available for Genatlas for MTHFR Gene

Publications for MTHFR Gene

  1. 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 67
  2. Role of the MTHFR polymorphisms in cancer risk modification and treatment. (PMID: 19450180) Kim Y.I. (Future Oncol 2009) 3 23 25 26
  3. A common haplotype on methylenetetrahydrofolate reductase gene modifies the effect of angiotensin-converting enzyme inhibitor on blood pressure in essential hypertension patients--a family-based association study. (PMID: 16081343) Jiang S. … Xu X. (Clin. Exp. Hypertens. 2005) 3 23 25 26
  4. Methylenetetrahydrofolate reductase polymorphism interacts with riboflavin intake to influence bone mineral density. (PMID: 15454103) Macdonald H.M. … Reid D.M. (Bone 2004) 3 23 25 26
  5. Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients. (PMID: 11979347) Nakamura T. … Hata A. (Am. J. Kidney Dis. 2002) 3 23 25 26

Products for MTHFR Gene

Sources for MTHFR Gene

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