MTHFR
Summary: 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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:607093 Ensembl IDEnsembl:ENSG00000177000 HGNC IDHGNC:HGNC:7436 PHARMGKB IDPA245 Map Location1p36.22 | |||||
GO terms in MTHFR
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004489 | methylenetetrahydrofolate reductase (NAD(P)H) activity |
| MF | IDA | GO:0004489 | methylenetetrahydrofolate reductase (NAD(P)H) activity |
| MF | IGI | GO:0004489 | methylenetetrahydrofolate reductase (NAD(P)H) activity |
| MF | IMP | GO:0004489 | methylenetetrahydrofolate reductase (NAD(P)H) activity |
| MF | TAS | GO:0004489 | methylenetetrahydrofolate reductase (NAD(P)H) activity |
| MF | IPI | GO:0044877 | protein-containing complex binding |
Gene expression in normal tissue: MTHFR
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MTHFR
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-196757 | Metabolism of folate and pterines |
| reactome | R-HSA-196849 | Metabolism of water-soluble vitamins and cofactors |
| reactome | R-HSA-196854 | Metabolism of vitamins and cofactors |
| pharmgkb | PA165291507 | Fluoropyrimidine Pathway, Pharmacodynamics |
| pharmgkb | PA165291575 | Antimetabolite Pathway - Folate Cycle, Pharmacodynamics |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD21 | Fluorouracil | 7 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MTHFR
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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