Human

Human Kidney Gene DataBase
Name 5,10-methylenetetrahydrofolate reductase (NADPH)
Symbol MTHFR
Aliases Methylenetetrahydrofolate reductase
Gene Product
  • 5,10-methylenetetrahydrofolate reductase (NADPH)
Category
UniGene Hs.152547  Hs.214142 
Reference Sequence
mRNA: NM_005957 Protein: NP_005948
OMIM and SNP
OMIM: 607093 SNP: NCBI SNP
Locus
LocusLink: 4524Chromosome: 1Cytoband: 1p36.3 UCSC Genome Map Eesembl Genome Map
SummaryMethylenetetrahydrofolate reductase (EC 1.5.1.20) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine.[supplied by OMIM]
Gene Ontology
Expression
EST (66 ESTs, 46 libraries)
Tissue Breadth ? CPM ?
boneBreadth of expression: 2 out of 24 libraries express this gene (8.33%)Average CPM:3.30
bone marrowBreadth of expression: 1 out of 22 libraries express this gene (4.55%)Average CPM:4.13
brainBreadth of expression: 4 out of 759 libraries express this gene (0.53%)Average CPM:0.36
colonBreadth of expression: 4 out of 930 libraries express this gene (0.43%)Average CPM:60.61
eyeBreadth of expression: 2 out of 24 libraries express this gene (8.33%)Average CPM:8.20
germ cellBreadth of expression: 1 out of 6 libraries express this gene (16.67%)Average CPM:0.42
head and neckBreadth of expression: 1 out of 680 libraries express this gene (0.15%)Average CPM:18.61
kidneyBreadth of expression: 2 out of 145 libraries express this gene (1.38%)Average CPM:15.24
lungBreadth of expression: 3 out of 334 libraries express this gene (0.90%)Average CPM:68.56
lymph nodeBreadth of expression: 4 out of 22 libraries express this gene (18.18%)Average CPM:85.00
mammary glandBreadth of expression: 2 out of 1038 libraries express this gene (0.19%)Average CPM:4.54
muscleBreadth of expression: 1 out of 83 libraries express this gene (1.20%)Average CPM:2.06
nervousBreadth of expression: 2 out of 21 libraries express this gene (9.52%)Average CPM:5.48
ovaryBreadth of expression: 2 out of 170 libraries express this gene (1.18%)Average CPM:1.51
pancreasBreadth of expression: 1 out of 20 libraries express this gene (5.00%)Average CPM:0.77
placentaBreadth of expression: 7 out of 358 libraries express this gene (1.96%)Average CPM:122.19
prostateBreadth of expression: 2 out of 309 libraries express this gene (0.65%)Average CPM:1.94
skinBreadth of expression: 1 out of 38 libraries express this gene (2.63%)Average CPM:4.43
spleenBreadth of expression: 1 out of 15 libraries express this gene (6.67%)Average CPM:3.81
stomachBreadth of expression: 1 out of 310 libraries express this gene (0.32%)Average CPM:1.70
testisBreadth of expression: 3 out of 180 libraries express this gene (1.67%)Average CPM:54.31
uncharacterized tissueBreadth of expression: 4 out of 1739 libraries express this gene (0.23%)Average CPM:0.26
uterusBreadth of expression: 1 out of 236 libraries express this gene (0.42%)Average CPM:10.37
SAGE (1062837 tags, 20 libraries)
Tissue Breadth ? CPM ?
bloodBreadth of expression: 1 out of 1 libraries express this gene (100.00%)Average CPM:20.61
brainBreadth of expression: 3 out of 30 libraries express this gene (10.00%)Average CPM:14.56
cerebellumBreadth of expression: 1 out of 1 libraries express this gene (100.00%)Average CPM:19.50
cervixBreadth of expression: 1 out of 1 libraries express this gene (100.00%)Average CPM:65.75
colonBreadth of expression: 5 out of 8 libraries express this gene (62.50%)Average CPM:47.37
eyeBreadth of expression: 1 out of 6 libraries express this gene (16.67%)Average CPM:37.27
heartBreadth of expression: 1 out of 1 libraries express this gene (100.00%)Average CPM:11.85
kidneyBreadth of expression: 2 out of 3 libraries express this gene (66.67%)Average CPM:23.43
lungBreadth of expression: 1 out of 1 libraries express this gene (100.00%)Average CPM:67.31
mammary glandBreadth of expression: 3 out of 20 libraries express this gene (15.00%)Average CPM:16.44
muscleBreadth of expression: 2 out of 2 libraries express this gene (100.00%)Average CPM:37.13
nervousBreadth of expression: 1 out of 1 libraries express this gene (100.00%)Average CPM:18.04
ovaryBreadth of expression: 3 out of 10 libraries express this gene (30.00%)Average CPM:25.30
pancreasBreadth of expression: 5 out of 8 libraries express this gene (62.50%)Average CPM:42.46
prostateBreadth of expression: 3 out of 14 libraries express this gene (21.43%)Average CPM:35.30
skinBreadth of expression: 1 out of 7 libraries express this gene (14.29%)Average CPM:112.98
stomachBreadth of expression: 3 out of 4 libraries express this gene (75.00%)Average CPM:34.85
uncharacterized tissueBreadth of expression: 2 out of 20 libraries express this gene (10.00%)Average CPM:17.59
vascularBreadth of expression: 2 out of 3 libraries express this gene (66.67%)Average CPM:18.13
EvidenceHypomethylation in Kidney Neoplasms Mutation in End-Stage Renal Disease

Other key publications related to this gene

© 2004, KGDB, All Rights Reserved.
Department of Urology
University of California, San Francisco