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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. MTHFR, methylenetetrahydrofolate reductase (NAD(P)H)
Sequence ID:NM_005957
RefSeqGene ID:NG_013351
Entrez Gene ID:4524
Ensembl ID:ENSG00000177000

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssemblies

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
NEURAL TUBEDEFECTS, FOLATE-SENSITIVEMTHFD1
MTR
MTRR
SCHIZOAFFECTIVEDISORDERAKT1
APOL1
APOL2
APOL4
CHI3L1
CHI3L1
COMT
DAO
DAOA
DISC1
DISC2
DRD3
DTNBP1
HTR2A
LGR4
RTN4R
SYN2
THROMBOPHILIA DUE TO THROMBIN DEFECTF13A1
F2
HABP2

Cytogenetic Location (from UniGene)

Cytogenetic Location:1p36.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:1: 11863084 - 11865470

 Exon Info From UCSC:
NM_005957

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
6374885Full LengthBC0535095,10-methylenetetrahydrofolate reductase (NADPH)
3949285IncompleteBC0116145,10-methylenetetrahydrofolate reductase (NADPH)
4299889IncompleteBC0187665,10-methylenetetrahydrofolate reductase (NADPH)

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_005957 NP_005948 P42898 EC 1.5.1.20 MTHFR

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
U09806 AAA74440 P42898 EC 1.5.1.20
BC053509 AAH53509 P42898 EC 1.5.1.20
AY046560 AAL17646 Q8IU67  
AY046561 AAL17647 Q8IU67  
AY046562 AAL17648 Q8IU73  
AY046563 AAL17649 Q8IU67  
AY046564 AAL17650 Q8IU67  
AY046565 AAL17651 Q8IU67  
AB209113 BAD92350 Q59GJ6  
AK312907 BAG35753 P42898 EC 1.5.1.20
AJ237672 CAB41971 P42898 EC 1.5.1.20

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens MTHFR NP_005948 M.musculus Mthfr 17769 Gene Info NP_001155270 91
R.norvegicus Mthfr 362657   XP_342976 89
C.elegans C06A8.1 174254   NP_741028 49
N.crassa NCU07690 3877877   XP_961729 48
A.thaliana MTHFR2 819022   NP_566011 45
A.thaliana MTHFR1 825167   NP_191556 45
S.pombe met9 2542993   NP_593224 44
S.cerevisiae MET13 852752   NP_011390 44

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)