MTHFR
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Homo sapiens |
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MTHFR is differentially expressed in 267 experiments: 134 organism parts: liver, blood, ... (132 more);, 194 disease states: normal, breast carcinoma, ... (192 more);, 88 cell types 350 cell lines 34 compound treatments and 78 other conditions. |
| Orthologs |
Mthfr
(Rattus norvegicus)
MTHFR
(Danio rerio)
F1MF22_BOVIN
(Bos taurus)
E1BXL1_CHICK
(Gallus gallus)
F6RK00_CIOIN
(Ciona intestinalis)
Mthfr
(Mus musculus)
MET13
(Saccharomyces cerevisiae)
mthfr
(Xenopus laevis)
MTHFR
(Canis familiaris)
(Compare orthologs)
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| Gene Ontology Term |
methylenetetrahydrofolate reductase (NADPH) activity, cytosol, oxidoreductase activity, cellular amino acid metabolic process, methionine metabolic process, methionine biosynthetic process, folic acid metabolic process, vitamin metabolic process, blood circulation, oxidation-reduction process, water-soluble vitamin metabolic process |
| Gene Ontology ID |
GO:0016491, GO:0004489, GO:0005829, GO:0055114, GO:0006520, GO:0006555, GO:0009086, GO:0008015, GO:0006766, GO:0046655, GO:0006767 |
| InterPro Term |
Mehydrof_redctse, Fadh2_euk |
| Ensembl Family Description |
METHYLENETETRAHYDROFOLATE REDUCTASE EC_1.5.1.20 |
| InterPro ID |
IPR003171, IPR004621 |
| Ensembl Family |
ENSFM00250000003343 |
| Description |
methylenetetrahydrofolate reductase (NAD(P)H) [Source:HGNC Symbol;Acc:7436] |
| EMBL-Bank ID |
AY338232, AJ237672, BC053509, AF105982, AF105983, AF105984, AF105985, AF105980, AF105981, AF105979, AF105978, AF105977, AF105987, AF105986, AJ249275, CH471130, AK312907, AF398930, U09806, AL953897, AY046565, AY046564, AY046562, AY046563, AY046560, AY046561 |
| Gene-Disease Assocation |
STROKE, ISCHEMIC, NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE, THROMBOSIS, SUSCEPTIBILITY TO, HOMOCYSTEINEMIA, SCHIZOPHRENIA; SCZD, OROFACIAL CLEFT 1; OFC1 |
| Ensembl Protein ID |
ENSP00000365775, ENSP00000365777, ENSP00000365770, ENSP00000365767, ENSP00000365669, ENSP00000398908, ENSP00000408307, ENSP00000405082, ENSP00000400460 |
| RefSeq ID |
NM_005957, NP_005948 |
| Entrez Gene ID |
4524 |
| UniGene ID |
Hs.214142, Hs.709010 |
| UniProt Accession |
Q9NY63, Q5SNW7, Q5SNW6, Q5SNW5, Q8IU73, Q8IU67, P42898 |
| HGNC Symbol |
MTHFR |
| Ensembl Gene ID |
ENSG00000177000 |
| Ensembl Transcript ID |
ENST00000431243, ENST00000376486, ENST00000376583, ENST00000376585, ENST00000376592, ENST00000376590, ENST00000418034, ENST00000413656, ENST00000423400 |
| Design Element |
ENST00000418034, g6631097_3p_at, 56892_at, 217071_s_at, ENST00000423400, 705_at, 217070_at, 206800_at, 239035_3p_at, ENST00000413656, ENST00000431243, 32897_at, ENST00000376592, ENST00000376590, 239035_at, Hs.293993.0.S1_3p_at, ENST00000376583, 80086_at, ENST00000376585, Hs.214142.1.S1_3p_a_at, 226929_at, Hs.164243.0.S1_3p_x_at, ENST00000376486, 84134_at |
| Search EB-eye |
ENSG00000177000
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