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Tbio
MTHFR
Methylenetetrahydrofolate reductase

Protein Summary
Description
Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000376583
  • ENSP00000365767
  • ENSG00000177000
  • ENST00000376585
  • ENSP00000365770
  • ENST00000376590
  • ENSP00000365775
  • ENST00000376592
  • ENSP00000365777
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor binding site profile
0.91
disease
0.85
virus perturbation
0.85
biological process
0.82
kinase perturbation
0.81


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 5968.01   (req: < 5)
Gene RIFs: 2185   (req: <= 3)
Antibodies: 342   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 5968.01   (req: >= 5)
Gene RIFs: 2185   (req: > 3)
Antibodies: 342   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 23
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (16)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
homocysteine measurement
3
1
3
97.5
diastolic blood pressure
3
2
3
86.6
Moyamoya disease
1
1
0
1.5
80.4
1
1
1
76.7
mean platelet volume
2
2
2
76
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
homocysteine measurement
3
97.5
diastolic blood pressure
3
86.6
Moyamoya disease
0
1.5
80.4
1
76.7
mean platelet volume
2
76
Orthologs (15)
1 – 5 of 15
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
methylenetetrahydrofolate reductase
VGNC:14309
469800
Macaque
methylenetetrahydrofolate reductase
714840
Mouse
MGI:106639
17769
Rat
RGD:1309952
362657
Dog
methylenetetrahydrofolate reductase
VGNC:43473
478230
Species
Name
OMA
EggNOG
Inparanoid
Chimp
methylenetetrahydrofolate reductase
Macaque
methylenetetrahydrofolate reductase
Mouse
Rat
Dog
methylenetetrahydrofolate reductase
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P42898-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (22)
Metabolism (R-HSA-1430728)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Metabolism
Reactome
Metabolism of folate and pterines
Reactome
Metabolism of vitamins and cofactors
Reactome
Metabolism of water-soluble vitamins and cofactors
Name
Explore in Pharos
Explore in Source
Metabolism
Metabolism of folate and pterines
Metabolism of vitamins and cofactors
Metabolism of water-soluble vitamins and cofactors
Gene Ontology Terms (25)
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (210)
1 – 10 of 210
HSD3B2
Tclin
Family: Enzyme
Novelty: 0.00711552
p_int: 0.999999625
p_ni: 3.75e-7
Score: 0.169
Data Source: BioPlex,STRINGDB
GNAZ
Tbio
Novelty: 0.02008523
p_int: 0.999985447
p_ni: 0.000014553
Data Source: BioPlex
BTN3A1
Tbio
Novelty: 0.02572232
p_int: 0.999976449
p_ni: 0.000023542
p_wrong: 9e-9
Data Source: BioPlex
C6orf222
Tdark
Novelty: 37
p_int: 0.999969976
p_ni: 0.000030024
Data Source: BioPlex
RASSF1
Tbio
Novelty: 0.00137149
p_int: 0.999918691
p_ni: 0.000081309
Score: 0.408
Data Source: BioPlex,STRINGDB
BCL2
Tclin
Novelty: 0.00608635
p_int: 0.999881692
p_ni: 0.000118308
p_wrong: 1e-9
Data Source: BioPlex
ANKLE2
Tbio
Novelty: 0.0995907
p_int: 0.999795447
p_ni: 0.000204547
p_wrong: 6e-9
Data Source: BioPlex
TYROBP
Tbio
Family: Enzyme
Novelty: 0.00410031
p_int: 0.999792974
p_ni: 0.000207025
Data Source: BioPlex
NOX5
Tchem
Family: Enzyme
Novelty: 0.00743692
p_int: 0.999556456
p_ni: 0.000443544
Score: 0.202
Data Source: BioPlex,STRINGDB
TIGD6
Tdark
Novelty: 4.01176838
p_int: 0.999367307
p_ni: 0.000632693
Score: 0.248
Data Source: BioPlex,STRINGDB
Publication Statistics
PubMed Score  5968.01

PubMed score by year
PubTator Score  4502.67

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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