Mthfr (methylenetetrahydrofolate reductase) - Rat Genome Database

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Gene: Mthfr (methylenetetrahydrofolate reductase) Mus musculus
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Symbol: Mthfr
Name: methylenetetrahydrofolate reductase
RGD ID: 1551392
MGI Page MGI
Description: Enables methylenetetrahydrofolate reductase (NAD(P)H) activity. Acts upstream of or within methionine biosynthetic process. Is expressed in several structures, including central nervous system; cranium; heart; sensory organ; and testis. Used to study neural tube defect. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); carcinoma (multiple); cardiovascular system disease (multiple); hematologic cancer (multiple); and liver disease (multiple). Orthologous to human MTHFR (methylenetetrahydrofolate reductase).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 5,10-methylenetetrahydrofolate reductase; AI323986; methylenetetrahydrofolate reductase (NADPH)
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: Mthfr-ps1  
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394148,123,534 - 148,144,019 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4148,123,534 - 148,144,008 (+)EnsemblGRCm39 Ensembl
GRCm384148,039,077 - 148,059,562 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4148,039,077 - 148,059,551 (+)EnsemblGRCm38mm10GRCm38
MGSCv374147,413,186 - 147,433,671 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364146,885,022 - 146,903,349 (+)NCBIMGSCv36mm8
Celera4150,305,674 - 150,326,065 (+)NCBICelera
Cytogenetic Map4E1NCBI
cM Map478.67NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
abdominal aortic aneurysm  (ISO)
acute kidney failure  (ISO)
acute lymphoblastic leukemia  (ISO)
acute myeloid leukemia  (ISO)
Albuminuria  (ISO)
alcoholic liver cirrhosis  (ISO)
allergic disease  (ISO)
alopecia  (ISO)
Alzheimer's disease  (ISO)
amyotrophic lateral sclerosis  (ISO)
anemia  (ISO)
angle-closure glaucoma  (ISO)
ankylosing spondylitis  (ISO)
Aortic Coarctation  (ISO)
aphthous stomatitis  (ISO)
Arsenic Poisoning  (ISO)
Arterial Occlusive Diseases  (ISO)
asthma  (ISO)
atherosclerosis  (ISO)
attention deficit hyperactivity disorder  (ISO)
autism spectrum disorder  (ISO)
autistic disorder  (ISO)
B-Cell Chronic Lymphocytic Leukemia  (ISO)
Banti's Syndrome  (ISO)
bipolar disorder  (ISO)
brain ischemia  (ISO)
Breast Neoplasms  (ISO)
Budd-Chiari syndrome  (ISO)
cardia cancer  (ISO)
cardiovascular system disease  (ISO)
carotid stenosis  (ISO)
cataract  (ISO)
cerebral infarction  (ISO)
cervical cancer  (ISO)
cervix uteri carcinoma in situ  (ISO)
Charcot-Marie-Tooth disease type 2  (ISO)
Chemical and Drug Induced Liver Injury  (ISO)
cholangiocarcinoma  (ISO)
chromosome 1p36 deletion syndrome  (ISO)
chronic kidney disease  (ISO)
chronic myeloid leukemia  (ISO)
clear cell renal cell carcinoma  (ISO)
cleft lip  (ISO)
clubfoot  (ISO)
Cognitive Dysfunction  (ISO)
Colonic Neoplasms  (ISO)
Colorectal Neoplasms  (ISO)
congenital heart disease  (ISO)
Conotruncal Cardiac Defects  (ISO)
coronary artery disease  (ISO)
Coronary Disease  (ISO)
coronary restenosis  (ISO)
Crohn's disease  (ISO)
Cytomegalovirus Infections  (IMP,ISO)
depressive disorder  (ISO)
Developmental Disabilities  (ISO)
dextro-looped transposition of the great arteries  (ISO)
diabetes mellitus  (ISO)
diabetic angiopathy  (ISO)
Diabetic Nephropathies  (ISO)
diabetic retinopathy  (ISO)
diffuse large B-cell lymphoma  (ISO)
Down syndrome  (ISO)
Drug Eruptions  (ISO)
Drug-Related Side Effects and Adverse Reactions  (ISO)
Ehlers-Danlos syndrome kyphoscoliotic type 1  (ISO)
end stage renal disease  (ISO)
Endometrial Neoplasms  (ISO)
epilepsy with generalized tonic-clonic seizures  (ISO)
Experimental Diabetes Mellitus  (ISO)
eye disease  (ISO)
factor VIII deficiency  (ISO)
Familial Atrial Fibrillation 6  (ISO)
familial Mediterranean fever  (ISO)
Female Infertility  (ISO)
Folate-Sensitive Neural Tube Defects  (ISO)
follicular lymphoma  (ISO)
gastrointestinal stromal tumor  (ISO)
gastrointestinal system disease  (ISO)
genetic disease  (ISO)
glomerulonephritis  (ISO)
graft-versus-host disease  (ISO)
Graves' disease  (ISO)
Habitual Abortions  (ISO)
Hearing Loss  (ISO)
Helicobacter Infections  (ISO)
Hematologic Neoplasms  (ISO)
hematopoietic system disease  (ISO)
hepatic veno-occlusive disease  (ISO)
hepatitis B  (ISO)
hepatocellular carcinoma  (ISO)
hyperhomocysteinemia  (ISO)
hyperthyroidism  (ISO)
hypopituitarism  (ISO)
hypothyroidism  (ISO)
inflammatory bowel disease  (ISO)
Inherited Blood Coagulation Disease  (ISO)
intellectual disability  (ISO)
intracranial sinus thrombosis  (ISO)
ischemia  (ISO)
kidney disease  (ISO)
kidney failure  (ISO)
Kuhnt-Junius degeneration  (ISO)
Left Ventricular Hypertrophy  (ISO)
Leukoencephalopathies  (ISO)
leukopenia  (ISO)
liver benign neoplasm  (ISO)
liver cirrhosis  (ISO)
liver disease  (ISO)
Lung Neoplasms  (ISO)
lung small cell carcinoma  (ISO)
lymphoma  (ISO)
male infertility  (ISO)
Malnutrition  (ISO)
Maxillofacial Abnormalities  (ISO)
Meniere's disease  (ISO)
metabolic dysfunction-associated steatotic liver disease  (ISO)
Methylenetetrahydrofolate Reductase Deficiency  (ISO)
Microsatellite Instability  (ISO)
Microvascular Angina  (ISO)
migraine  (ISO)
migraine with aura  (ISO)
mitral valve disease  (ISO)
Mthfr Deficiency, Thermolabile Type  (ISO)
mucositis  (ISO)
multiple myeloma  (ISO)
myeloid neoplasm  (ISO)
myelomeningocele  (ISO)
myocardial infarction  (ISO)
Necrosis  (ISO)
Neoplasm Metastasis  (ISO)
nephroblastoma  (ISO)
nephrosclerosis  (ISO)
nervous system disease  (ISO)
neural tube defect  (IAGP,ISO)
neutropenia  (ISO)
non-arteritic anterior ischemic optic neuropathy  (ISO)
non-Hodgkin lymphoma  (ISO)
open-angle glaucoma  (ISO)
oral squamous cell carcinoma  (ISO)
osteonecrosis  (ISO)
osteosarcoma  (ISO)
pancreatic cancer  (ISO)
papillomavirus infectious disease  (ISO)
Parkinson's disease  (ISO)
peripheral artery disease  (ISO)
portal vein thrombosis  (ISO)
Prenatal Exposure Delayed Effects  (ISO)
prostate cancer  (ISO)
Prostatic Neoplasms  (ISO)
pulmonary embolism  (ISO)
rectal benign neoplasm  (ISO)
renal artery disease  (ISO)
renal cell carcinoma  (ISO)
retinal disease  (IMP)
retinal vein occlusion  (ISO)
rheumatoid arthritis  (ISO)
schizophrenia  (ISO)
sickle cell anemia  (ISO)
skin disease  (ISO)
smallpox  (ISO)
spina bifida  (ISO)
spinal cord disease  (ISO)
sporadic breast cancer  (ISO)
squamous cell carcinoma  (ISO)
steatotic liver disease  (ISO)
stomach cancer  (ISO)
Stomach Neoplasms  (ISO)
Stroke  (ISO)
Sudden Hearing Loss  (ISO)
tetralogy of Fallot  (ISO)
thrombocytopenia  (ISO)
thrombophilia  (ISO)
thrombophilia due to thrombin defect  (ISO)
thrombosis  (ISO)
Thrombotic Microangiopathies  (ISO)
thyrotoxicosis  (ISO)
transitional cell carcinoma  (ISO)
type 1 diabetes mellitus  (ISO)
type 2 diabetes mellitus  (ISO)
urinary bladder cancer  (ISO)
Uterine Cervical Neoplasms  (ISO)
Vascular Calcification  (ISO)
vascular dementia  (ISO)
vascular disease  (ISO)
Venous Thromboembolism  (ISO)
Venous Thrombosis  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (EXP)
1,2-dichloroethane  (EXP)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-butoxyethanol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5,10-methylenetetrahydrofolic acid  (ISO)
5-fluorouracil  (ISO)
5-formyltetrahydrofolic acid  (ISO)
5-methyltetrahydrofolic acid  (ISO)
6-propyl-2-thiouracil  (ISO)
7-Hydroxymethotrexate  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
ancitabine  (ISO)
antirheumatic drug  (ISO)
aristolochic acid A  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
benazepril  (ISO)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (EXP)
bifenthrin  (EXP)
bisphenol A  (ISO)
bromobenzene  (ISO)
butanal  (ISO)
calcitriol  (ISO)
carbon nanotube  (EXP)
choline  (EXP)
clozapine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
corosolic acid  (ISO)
crocidolite asbestos  (EXP,ISO)
cyanocob(III)alamin  (ISO)
cyproconazole  (ISO)
cytarabine  (ISO)
dibenz[a,h]anthracene  (EXP)
epoxiconazole  (ISO)
fentin chloride  (ISO)
floxuridine  (ISO)
folic acid  (EXP,ISO)
gallic acid  (ISO)
gentamycin  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
GW 4064  (EXP)
homocysteine  (EXP,ISO)
indole-3-methanol  (ISO)
inulin  (EXP)
iron dichloride  (ISO)
L-methionine  (EXP)
maneb  (EXP)
methimazole  (ISO)
methotrexate  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (EXP,ISO)
nickel atom  (ISO)
olanzapine  (ISO)
paracetamol  (ISO)
paraquat  (EXP)
parathion  (EXP)
PCB138  (EXP)
pentanal  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
phenylhydrazine  (ISO)
pirinixic acid  (EXP)
propiconazole  (ISO)
raloxifene  (ISO)
riboflavin  (ISO)
ritodrine  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
simvastatin  (EXP,ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
streptozocin  (EXP)
sulfasalazine  (ISO)
sunitinib  (ISO)
tamoxifen  (EXP,ISO)
testosterone  (ISO)
tetrachloromethane  (EXP,ISO)
tetrahydrocurcumin  (EXP)
triadimefon  (ISO)
tributylstannane  (EXP)
trichloroethene  (ISO)
troglitazone  (EXP)
valproic acid  (EXP,ISO)
vigabatrin  (EXP)

References

References - curated
# Reference Title Reference Citation
1. Hyperhomocysteinemia and the MTHFR C677T polymorphism promote steatosis and fibrosis in chronic hepatitis C patients. Adinolfi LE, etal., Hepatology. 2005 May;41(5):995-1003.
2. Frequency of the MTHFR C677T polymorphism in Yemeni children with sickle cell disease. Al-Saqladi AW, etal., Hemoglobin. 2010;34(1):67-77. doi: 10.3109/09687630903554111.
3. Endothelial cell dysfunction in women with cardiac syndrome X and MTHFR C677T mutation. Alroy S, etal., Isr Med Assoc J. 2007 Apr;9(4):321-5.
4. Analysis of polymorphism in renin angiotensin system and other related genes in South Indian chronic kidney disease patients. Anbazhagan K, etal., Clin Chim Acta. 2009 Aug;406(1-2):108-12. Epub 2009 Jun 9.
5. Analysis of inherited thrombophilic mutations and natural anticoagulant deficiency in patients with idiopathic portal hypertension. Bayan K, etal., J Thromb Thrombolysis. 2009 Jul;28(1):57-62. doi: 10.1007/s11239-008-0244-8. Epub 2008 Aug 7.
6. Hyperhomocysteinemia and hypercoagulability in primary biliary cirrhosis. Biagini MR, etal., World J Gastroenterol. 2006 Mar 14;12(10):1607-12.
7. Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. Blom HJ and Smulders Y, J Inherit Metab Dis. 2011 Feb;34(1):75-81. doi: 10.1007/s10545-010-9177-4. Epub 2010 Sep 4.
8. Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and promoter methylation in cervical oncogenic lesions and cancer. Botezatu A, etal., J Cell Mol Med. 2013 Apr;17(4):543-9. doi: 10.1111/jcmm.12032. Epub 2013 Feb 28.
9. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Botto LD and Yang Q, Am J Epidemiol. 2000 May 1;151(9):862-77.
10. Methylenetetrahydrofolate reductase 677 T allele protects against persistent HBV infection in West Africa. Bronowicki JP, etal., J Hepatol. 2008 Apr;48(4):532-9. doi: 10.1016/j.jhep.2007.11.017. Epub 2008 Jan 2.
11. Lack of association between inherited thrombophilic risk factors and idiopathic sudden sensorineural hearing loss in Italian patients. Cadoni G, etal., Ann Otol Rhinol Laryngol. 2006 Mar;115(3):195-200.
12. Genetic polymorphisms of MTHFR and aberrant promoter hypermethylation of the RASSF1A gene in bladder cancer risk in a Chinese population. Cai DW, etal., J Int Med Res. 2009 Nov-Dec;37(6):1882-9.
13. Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms. Capaccio P, etal., Genet Med. 2005 Mar;7(3):206-8.
14. The MTHFR C677T polymorphism is associated with mitral valve rheumatic heart disease. Carlus SJ, etal., Eur Rev Med Pharmacol Sci. 2016;20(1):109-14.
15. Homocysteine and stroke: evidence on a causal link from mendelian randomisation. Casas JP, etal., Lancet. 2005 Jan 15-21;365(9455):224-32.
16. Non-alcoholic fatty liver disease (NAFLD) and MTHFR 1298A > C gene polymorphism. Catalano D, etal., Eur Rev Med Pharmacol Sci. 2014;18(2):151-9.
17. Altered expression of methylenetetrahydrofolate reductase modifies response to methotrexate in mice. Celtikci B, etal., Pharmacogenet Genomics. 2008 Jul;18(7):577-89.
18. Impact of methylenetetrahydrofolate reductase polymorphisms and folate intake on the risk of gastric cancer and their association with Helicobacter pylori infection and tumor site. Chen J, etal., Genet Mol Res. 2014 Jan 24;13(4):9718-26. doi: 10.4238/2014.January.24.2.
19. The role of MTHFR and RFC1 polymorphisms on toxicity and outcome of adult patients with hematological malignancies treated with high-dose methotrexate followed by leucovorin rescue. Chiusolo P, etal., Cancer Chemother Pharmacol. 2012 Mar;69(3):691-6. doi: 10.1007/s00280-011-1751-4. Epub 2011 Oct 9.
20. MTHFR Gene variants C677T, A1298C and association with Down syndrome: A Case-control study from South India. Cyril C, etal., Indian J Hum Genet. 2009 May;15(2):60-4. doi: 10.4103/0971-6866.55217.
21. Thrombophilic genetic factors PAI-1 4G-4G and MTHFR 677TT as risk factors of alcohol, cryptogenic liver cirrhosis and portal vein thrombosis, in a Caucasian population. D'Amico M, etal., Gene. 2015 Aug 15;568(1):85-8. doi: 10.1016/j.gene.2015.05.034. Epub 2015 May 16.
22. The role of vitamin B12 in fasting hyperhomocysteinemia and its interaction with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. A case-control study of patients with early-onset thrombotic events. D'Angelo A, etal., Thromb Haemost. 2000 Apr;83(4):563-70.
23. MTHFR C677T/A1298C genotype: a possible risk factor for liver sinusoidal obstruction syndrome. Efrati E, etal., Bone Marrow Transplant. 2014 May;49(5):726-7. doi: 10.1038/bmt.2014.16. Epub 2014 Mar 3.
24. Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients. El Sebay HM, etal., J Gastroenterol Hepatol. 2016 Jan;31(1):235-40. doi: 10.1111/jgh.13066.
25. MTHFR C677T, A1298C and ACE I/D polymorphisms as risk factors for diabetic nephropathy among type 2 diabetic patients. El-Baz R, etal., J Renin Angiotensin Aldosterone Syst. 2012 May 3.
26. Study of the pharmacokinetic and pharmacogenetic contribution to the toxicity of high-dose methotrexate in children with acute lymphoblastic leukemia. El-Khodary NM, etal., Med Oncol. 2012 Sep;29(3):2053-62. doi: 10.1007/s12032-011-9997-6. Epub 2011 Jun 5.
27. Methylenetetrahydrofolate reductase gene polymorphisms in Turkish children with attention-deficit/hyperactivity disorder. Ergul E, etal., Genet Test Mol Biomarkers. 2012 Jan;16(1):67-9. doi: 10.1089/gtmb.2011.0062. Epub 2011 Aug 5.
28. Thrombophilic risk factors in the pathogenesis of non-arteritic anterior ischemic optic neuropathy patients. Felekis T, etal., Graefes Arch Clin Exp Ophthalmol. 2010 Jun;248(6):877-84. doi: 10.1007/s00417-010-1308-y. Epub 2010 Feb 17.
29. Impact of the MTHFR C677T polymorphism on risk of Wilms tumor: case-control study. Ferrara M, etal., J Pediatr Hematol Oncol. 2009 Apr;31(4):256-8.
30. Methylenetetrahydrofolate reductase (MTHFR) deficiency enhances resistance against cytomegalovirus infection. Fodil-Cornu N, etal., Genes Immun. 2009 Oct;10(7):662-6. doi: 10.1038/gene.2009.50. Epub 2009 Jul 16.
31. Comprehensive analysis of Methylenetetrahydrofolate reductase C677T in younger acute lymphoblastic leukemia patients: A single-center experience. Frikha R, etal., J Oncol Pharm Pract. 2019 Jul;25(5):1182-1186. doi: 10.1177/1078155218818244. Epub 2018 Dec 14.
32. Methylenetetrahydrofolate reductase (MTHFR) polymorphism A1298C (Glu429Ala) predicts decline in renal function over time in the African-American Study of Kidney Disease and Hypertension (AASK) Trial and Veterans Affairs Hypertension Cohort (VAHC). Fung MM, etal., Nephrol Dial Transplant. 2012 Jan;27(1):197-205. Epub 2011 May 25.
33. Role of genetic and acquired prothrombotic risk factors in genesis of sudden sensorineural hearing loss. Fusconi M, etal., Audiol Neurootol. 2011;16(3):185-90. doi: 10.1159/000319310. Epub 2010 Aug 25.
34. The G1691 --> A mutation of factor V, but not the G20210 --> A mutation of factor II or the C677 --> T mutation of methylenetetrahydrofolate reductase genes, is associated with venous thrombosis in patients with lupus anticoagulants. Galli M, etal., Br J Haematol. 2000 Mar;108(4):865-70.
35. MTHFR C677T mutation in central retinal vein occlusion: a case-control study in Chinese population. Gao W, etal., Thromb Res. 2008;121(5):699-703. Epub 2007 Aug 23.
36. Identification of a biomarker profile associated with resistance to neoadjuvant chemoradiation therapy in rectal cancer. Garcia-Aguilar J, etal., Ann Surg. 2011 Sep;254(3):486-92; discussion 492-3.
37. C677T substitution in the methylenetetrahydrofolate reductase gene as a risk factor for venous thrombosis and arterial disease in selected patients. Gemmati D, etal., Haematologica. 1999 Sep;84(9):824-8.
38. Renal vascular sclerosis is associated with inherited thrombophilias. Goforth RL, etal., Kidney Int. 2006 Aug;70(4):743-50. Epub 2006 Jun 7.
39. Analysis of thrombophilic genetic mutations in patients with Sheehan's syndrome: is thrombophilia responsible for the pathogenesis of Sheehan's syndrome? Gokalp D, etal., Pituitary. 2011 Jun;14(2):168-73. doi: 10.1007/s11102-010-0276-x.
40. Methylenetetrahydrofolate reductase gene polymorphisms in children with attention deficit hyperactivity disorder. Gokcen C, etal., Int J Med Sci. 2011;8(7):523-8. Epub 2011 Aug 30.
41. Methylenetetrahydrofolate reductase C677T and reduced folate carrier 80 G>A polymorphisms are associated with an increased risk of conotruncal heart defects. Gong D, etal., Clin Chem Lab Med. 2012 Feb 4;50(8):1455-61. doi: 10.1515/cclm-2011-0759.
42. MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease. Hatzlhofer BL, etal., Genet Test Mol Biomarkers. 2012 Sep;16(9):1038-43. doi: 10.1089/gtmb.2011.0361. Epub 2012 Aug 27.
43. The common mutations C677T and A1298C in the human methylenetetrahydrofolate reductase gene are associated with hyperhomocysteinemia and cardiovascular disease in hemodialysis patients. Haviv YS, etal., Nephron. 2002 Sep;92(1):120-6.
44. MTHFR, MTR and MTRR polymorphisms and risk of chronic kidney disease in Japanese: cross-sectional data from the J-MICC Study. Hishida A, etal., Int Urol Nephrol. 2013 Apr 18.
45. The importance of homozygous polymorphisms of methylenetetrahydrofolate reductase gene in romanian patients with idiopathic venous thromboembolism. Hotoleanu C, etal., Balkan Med J. 2013 Jun;30(2):197-203. doi: 10.5152/balkanmedj.2013.7159. Epub 2013 Jun 1.
46. Association between polymorphisms in genes encoding methylenetetrahydrofolate reductase and the risk of Meniere's disease. Huang Y, etal., J Neurogenet. 2013 Jun;27(1-2):5-10. doi: 10.3109/01677063.2013.770510. Epub 2013 Mar 13.
47. Plasminogen activator inhibitor 1 and methylenetetrahydrofolate reductase gene mutations in iranian women with polycystic ovary syndrome. Idali F, etal., Am J Reprod Immunol. 2012 Nov;68(5):400-7. doi: 10.1111/aji.12002. Epub 2012 Aug 6.
48. IL-4 and MTHFR gene polymorphism in rheumatoid arthritis and their effects. Inanir A, etal., Immunol Lett. 2013 May;152(2):104-8. doi: 10.1016/j.imlet.2013.05.004. Epub 2013 May 15.
49. Synergistic effects of prothrombotic polymorphisms and atherogenic factors on the risk of myocardial infarction in young males. Inbal A, etal., Blood. 1999 Apr 1;93(7):2186-90.
50. MTHFR gene polymorphisms in bladder cancer in the Turkish population. Izmirli M, etal., Asian Pac J Cancer Prev. 2011;12(7):1833-5.
51. Effects of streptozotocin-induced diabetes and of insulin treatment on homocysteine metabolism in the rat. Jacobs RL, etal., Diabetes. 1998 Dec;47(12):1967-70.
52. Effect of the MTHFR C677T and A1298C polymorphisms on survival in patients with advanced CKD and ESRD: a prospective study. Jamison RL, etal., Am J Kidney Dis. 2009 May;53(5):779-89. Epub 2009 Mar 9.
53. The relationship between methylenetetrahydrofolate reductase polymorphism and hematological malignancy. Jiang N, etal., Clin Lab. 2014;60(5):767-74.
54. C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma. Junemann AG, etal., Am J Ophthalmol. 2005 Apr;139(4):721-3.
55. Genetic risk factors for thrombosis in systemic lupus erythematosus. Kaiser R, etal., J Rheumatol. 2012 Aug;39(8):1603-10. Epub 2012 Jun 15.
56. Association of MTHFR gene C677T mutation with recurrent aphthous stomatitis and number of oral ulcers. Kalkan G, etal., Clin Oral Investig. 2014;18(2):437-41. doi: 10.1007/s00784-013-0997-0. Epub 2013 May 11.
57. Possible Association Between the Methylenetetrahydrofolate Reductase Gene C677T Polymorphism and Preexisting Portal Vein Thrombosis in Liver Transplant Recipients. Kamei H, etal., Exp Clin Transplant. 2016 Jun;14(3):313-6.
58. Methylenetetrahydrofolate Reductase gene polymorphism in patients receiving hemodialysis. Kiseljakovic E, etal., Bosn J Basic Med Sci. 2010 Apr;10 Suppl 1:S91-5.
59. MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis. Klerk M, etal., JAMA. 2002 Oct 23-30;288(16):2023-31.
60. Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population. Ko KH, etal., Anticancer Res. 2006 Nov-Dec;26(6B):4229-33.
61. Role of epigenetic and miR-22 and miR-29b alterations in the downregulation of Mat1a and Mthfr genes in early preneoplastic livers in rats induced by 2-acetylaminofluorene. Koturbash I, etal., Mol Carcinog. 2011 Dec 27. doi: 10.1002/mc.21861.
62. The C677T methylenetetrahydrofolate reductase gene mutation and nephropathy in type 2 diabetes mellitus. Ksiazek P, etal., Med Sci Monit. 2004 Feb;10(2):BR47-51.
63. Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genes. Kuehl K, etal., Birth Defects Res A Clin Mol Teratol. 2010 Feb;88(2):101-10.
64. The thermolabile variant of 5,10-methylenetetrahydrofolate reductase is a possible risk factor for amyotrophic lateral sclerosis. Kuhnlein P, etal., Amyotroph Lateral Scler. 2011 Mar;12(2):136-9. doi: 10.3109/17482968.2010.536985. Epub 2010 Dec 6.
65. Interrelationships among genetic C677T polymorphism of 5,10-methylenetetrahydrofolate reductase, biochemical folate status, and lymphocytic p53 oxidative damage in association with tumor malignancy and survivals of patients with hepatocellular carcinoma. Kuo CS, etal., Mol Nutr Food Res. 2014 Feb;58(2):329-42. doi: 10.1002/mnfr.201200479. Epub 2013 Aug 29.
66. Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms as risk factors for hepatocellular carcinoma in a Korean population. Kwak SY, etal., Anticancer Res. 2008 Sep-Oct;28(5A):2807-11.
67. Association of methylenetetrahydrofolate reductase polymorphism and the risk of squamous cell carcinoma in renal transplant patients. Laing ME, etal., Transplantation. 2007 Jul 15;84(1):113-6.
68. Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes. Lawrance AK, etal., J Inherit Metab Dis. 2011 Feb;34(1):147-57. doi: 10.1007/s10545-010-9127-1. Epub 2010 Jun 8.
69. MTHFR C677T polymorphism as a risk factor for vascular calcification in chronic hemodialysis patients. Lee SY, etal., J Korean Med Sci. 2011 Mar;26(3):461-5. Epub 2011 Feb 25.
70. Hyperhomocysteinemia and the MTHFR C677T mutation in Budd-Chiari syndrome. Li XM, etal., Am J Hematol. 2002 Sep;71(1):11-4.
71. A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls. Linnebank M, etal., Hum Mutat. 2002 Dec;20(6):478.
72. Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation. Loewenstein A, etal., Ophthalmology. 1999 Sep;106(9):1817-20.
73. MTHFR gene polymorphism is susceptible to diabetic retinopathy but not to diabetic nephropathy in Japanese type 2 diabetic patients. Maeda M, etal., J Diabetes Complications. 2008 Mar-Apr;22(2):119-25.
74. Association study between methylenetetrahydrofolate reductase gene polymorphisms and Graves' disease. Mao R, etal., Cell Biochem Funct. 2010 Oct;28(7):585-90. doi: 10.1002/cbf.1694.
75. Thrombophilic risk factors in patients with severe carotid atherosclerosis. Marcucci R, etal., J Thromb Haemost. 2005 Mar;3(3):502-7.
76. Genomic organization and chromosomal location of murine Cdc42. Marks PW and Kwiatkowski DJ, Genomics 1996 Nov 15;38(1):13-8.
77. Prognostic significance of folate metabolism polymorphisms for lung cancer. Matakidou A, etal., Br J Cancer. 2007 Jul 16;97(2):247-52. Epub 2007 May 29.
78. MGDs mouse GO annotations MGD data from the GO Consortium
79. MGD IEA MGD IEA
80. MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open angle and primary closed angle glaucoma. Micheal S, etal., Mol Vis. 2009 Nov 9;15:2268-78.
81. MTHFR 677CC/1298CC genotypes are highly associated with chronic myelogenous leukemia: a case-control study in Korea. Moon HW, etal., Leuk Res. 2007 Sep;31(9):1213-7. Epub 2006 Dec 6.
82. Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer. Moore LE, etal., Int J Cancer. 2007 Jun 1;120(11):2452-8.
83. Folate metabolism genes, vegetable intake and renal cancer risk in central Europe. Moore LE, etal., Int J Cancer. 2008 Apr 15;122(8):1710-5.
84. Association of methylene tetrahydrofolate reductase C677T genotype with type 2 diabetes mellitus patients with and without renal complications. Movva S, etal., Genet Test Mol Biomarkers. 2011 Apr;15(4):257-61. Epub 2010 Dec 27.
85. MTHFR C677T and A1298C gene polymorphisms and hyperhomocysteinemia as risk factors of diabetic nephropathy in type 2 diabetes patients. Mtiraoui N, etal., Diabetes Res Clin Pract. 2007 Jan;75(1):99-106. Epub 2006 Jul 7.
86. Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and the risk of primary hepatocellular carcinoma (HCC) in a Chinese population. Mu LN, etal., Cancer Causes Control. 2007 Aug;18(6):665-75. doi: 10.1007/s10552-007-9012-x. Epub 2007 May 15.
87. Homocysteine, methylenetetrahydrofolate reductase and risk of schizophrenia: a meta-analysis. Muntjewerff JW, etal., Mol Psychiatry. 2006 Feb;11(2):143-9.
88. Folate-mediated incorporation of ring-2-carbon of histidine into nucleic acids: influence of thyroid hormone. Nair CP, etal., Metabolism. 1994 Dec;43(12):1575-8.
89. Defective homocysteine metabolism as a risk factor for diabetic retinopathy. Neugebauer S, etal., Lancet. 1997 Feb 15;349(9050):473-4.
90. MTHFR C677T polymorphism and differential methylation status in gastric cancer: an association with Helicobacter pylori infection. Neves Filho EH, etal., Virchows Arch. 2010 Dec;457(6):627-33. doi: 10.1007/s00428-010-0996-3. Epub 2010 Oct 19.
91. Prenatal alcohol exposure alters methyl metabolism and programs serotonin transporter and glucocorticoid receptor expression in brain. Ngai YF, etal., Am J Physiol Regul Integr Comp Physiol. 2015 Sep;309(5):R613-22. doi: 10.1152/ajpregu.00075.2015. Epub 2015 Jul 15.
92. [Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls ]. Nitsche F, etal., Rev Med Chil. 2003 Dec;131(12):1399-404.
93. MTHFR gene C677T and A1298C variants are associated with FMF risk in a Turkish cohort. Nursal AF, etal., J Clin Lab Anal. 2018 Feb;32(2). doi: 10.1002/jcla.22259. Epub 2017 May 22.
94. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
95. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
96. 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Ou CY, etal., Am J Med Genet. 1996 Jun 28;63(4):610-4.
97. Recurrent pregnancy loss and its relation to combined parental thrombophilic gene mutations. Ozdemir O, etal., Genet Test Mol Biomarkers. 2012 Apr;16(4):279-86. doi: 10.1089/gtmb.2011.0191. Epub 2011 Nov 2.
98. 5,10-Methylenetetrahydrofolate reductase C677T gene polymorphism in Behcet's patients with or without ocular involvement. Ozkul Y, etal., Br J Ophthalmol. 2005 Dec;89(12):1634-7.
99. MTHFR C677T polymorphism associates with unexplained infertile male factors. Park JH, etal., J Assist Reprod Genet. 2005 Oct;22(9-10):361-8.
100. Methotrexate in pediatric osteosarcoma: response and toxicity in relation to genetic polymorphisms and dihydrofolate reductase and reduced folate carrier 1 expression. Patino-Garcia A, etal., J Pediatr. 2009 May;154(5):688-93. Epub 2009 Jan 21.
101. Low vitamin B6, and not plasma homocysteine concentration, as risk factor for abdominal aortic aneurysm: a retrospective case-control study. Peeters AC, etal., J Vasc Surg. 2007 Apr;45(4):701-5.
102. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
103. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
104. MTHFR A1298C polymorphism is associated with cardiovascular risk in end stage renal disease in North Indians. Poduri A, etal., Mol Cell Biochem. 2008 Jan;308(1-2):43-50. Epub 2007 Sep 25.
105. Methylenetetrahydrofolate reductase polymorphism 677C>T is associated with peripheral arterial disease in type 2 diabetes. Pollex RL, etal., Cardiovasc Diabetol. 2005 Nov 7;4:17.
106. MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers. Rai AK, etal., J Hum Genet. 2006;51(4):278-83. Epub 2006 Feb 18.
107. MTHFR c.677C>T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile. Ramirez-Chau C, etal., Oral Dis. 2016 Oct;22(7):703-8. doi: 10.1111/odi.12533. Epub 2016 Aug 1.
108. Genetic basis for adverse events after smallpox vaccination. Reif DM, etal., J Infect Dis. 2008 Jul 1;198(1):16-22. doi: 10.1086/588670.
109. Can MTHFR C677T and A1298C Polymorphisms Alter the Risk and Severity of Sporadic Breast Cancer in Brazilian Women? Rezende LM, etal., Clin Breast Cancer. 2017 Jul;17(4):e199-e208. doi: 10.1016/j.clbc.2017.02.004. Epub 2017 Feb 16.
110. Mouse MP Annotation Import Pipeline RGD automated import pipeline
111. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
112. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
113. No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population. Ricci C, etal., Neurobiol Aging. 2012 Jan;33(1):208.e7-8. doi: 10.1016/j.neurobiolaging.2011.07.010. Epub 2011 Aug 25.
114. Association of drug metabolism gene polymorphisms with toxicities, graft-versus-host disease and survival after HLA-identical sibling hematopoietic stem cell transplantation for patients with leukemia. Rocha V, etal., Leukemia. 2009 Mar;23(3):545-56. Epub 2008 Nov 13.
115. Polymorphisms in one-carbon metabolism pathway genes and risk for bladder cancer in a Tunisian population. Rouissi K, etal., Cancer Genet Cytogenet. 2009 Nov;195(1):43-53.
116. Impact of methylenetetrahydrofolate reductase C677T polymorphism on the risk of gastric cancer and its interaction with Helicobacter pylori infection. Saberi S, etal., Iran Biomed J. 2012;16(4):179-84. doi: 10.6091/ibj.1102.2012.
117. Methylenetetrahydrofolate reductase (MTHFR) gene C677T, A1298C and G1793A polymorphisms: association with risk for clear cell renal cell carcinoma and tumour behaviour in men. Safarinejad MR, etal., Clin Oncol (R Coll Radiol). 2012 May;24(4):269-81. doi: 10.1016/j.clon.2011.03.005. Epub 2011 Apr 13.
118. Genetic susceptibility of methylenetetrahydrofolate reductase (MTHFR) gene C677T, A1298C, and G1793A polymorphisms with risk for bladder transitional cell carcinoma in men. Safarinejad MR, etal., Med Oncol. 2011 Dec;28 Suppl 1:S398-412. Epub 2010 Oct 29.
119. Gender-specific association of methylenetetrahydrofolate reductase genotype and haplotype with the aggressiveness and prognosis of clear cell renal cell carcinoma in Japanese patients. Sakano S, etal., BJU Int. 2010 Aug;106(3):424-30. Epub 2009 Dec 22.
120. Methylenetetrahydrofolate reductase gene variant (MTHFR C677T) and migraine: a case control study and meta-analysis. Samaan Z, etal., BMC Neurol. 2011 Jun 2;11:66. doi: 10.1186/1471-2377-11-66.
121. Methylenetetrahydrofolate reductase gene polymorphisms in patients with nonalcoholic steatohepatitis (NASH). Sazci A, etal., Cell Biochem Funct. 2008 Apr;26(3):291-6. doi: 10.1002/cbf.1424.
122. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Sibani S, etal., Hum Mutat. 2000;15(3):280-7.
123. Genetic polymorphisms of methylenetetrahydrofolate reductase and promoter methylation of MGMT and FHIT genes in diffuse large B cell lymphoma risk in Middle East. Siraj AK, etal., Ann Hematol. 2007 Dec;86(12):887-95. Epub 2007 Aug 22.
124. Plasma total homocysteine levels and methylenetetrahydrofolate reductase gene polymorphism in patients with type 2 diabetes mellitus. Soares AL, etal., Pathophysiol Haemost Thromb. 2008;36(5):275-81. Epub 2009 Dec 9.
125. Methylenetetrahydrofolate reductase C677T mutation and risk of retinal vein thrombosis. Soltanpour MS, etal., J Res Med Sci. 2013 Jun;18(6):487-91.
126. Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects. Storti S, etal., Clin Chem Lab Med. 2003 Mar;41(3):276-80.
127. Trafficking of intracellular folates. Stover PJ and Field MS, Adv Nutr. 2011 Jul;2(4):325-31. doi: 10.3945/¿an.111.000596. Epub 2011 Jun 28.
128. Polymorphisms in 1-carbon metabolism, epigenetics and folate-related pathologies. Stover PJ J Nutrigenet Nutrigenomics. 2011;4(5):293-305. doi: 10.1159/000334586. Epub 2012 Feb 22.
129. The TT genotype of the C677T polymorphism in the methylentetrahydrofolate reductase as a risk factor in thrombotic microangiopathies: results from a pilot study. Sucker C, etal., Clin Appl Thromb Hemost. 2009 May-Jun;15(3):283-8.
130. Alcohol drinking and one-carbon metabolism-related gene polymorphisms on pancreatic cancer risk. Suzuki T, etal., Cancer Epidemiol Biomarkers Prev. 2008 Oct;17(10):2742-7.
131. Analysis of candidate genes for age-related macular degeneration subtypes in the Japanese population. Tanaka K, etal., Mol Vis. 2011;17:2751-8. Epub 2011 Oct 22.
132. Methylene tetrahydrofolate reductase gene polymorphism in Egyptian children with acute lymphoblastic leukemia. Tantawy AA, etal., Blood Coagul Fibrinolysis. 2010 Jan;21(1):28-34. doi: 10.1097/MBC.0b013e32833135e9.
133. Atopy, asthma, and lung function in relation to folate and vitamin B in adults. Thuesen BH, etal., Allergy. 2010 Nov;65(11):1446-54. doi: 10.1111/j.1398-9995.2010.02378.x.
134. Effect of methylenetetrahydrofolate reductase 677C-->T polymorphism on toxicity and homocysteine plasma level after chronic methotrexate treatment of ovarian cancer patients. Toffoli G, etal., Int J Cancer. 2003 Jan 20;103(3):294-9.
135. Analysis of the MTHFR (methylenetetrahydrofolate reductase) 677 C>T and 1298 A>C polymorphisms in BCR-ABL-negative myeloproliferative neoplasms. Trifa AP, etal., Int J Lab Hematol. 2013 Feb;35(1):e9-12. doi: 10.1111/ijlh.12017. Epub 2012 Oct 29.
136. Role of thrombotic risk factors in end-stage renal disease. Tripathi G, etal., Clin Appl Thromb Hemost. 2010 Apr;16(2):132-40. Epub 2009 Jun 10.
137. Relationship of MTHFR gene polymorphisms with renal and cardiac disease. Trovato FM, etal., World J Nephrol. 2015 Feb 6;4(1):127-37. doi: 10.5527/wjn.v4.i1.127.
138. Effect of prothrombotic mutations on factor consumption in children with hemophilia. Tuten H, etal., Clin Appl Thromb Hemost. 2013 Jul-Aug;19(4):445-8. doi: 10.1177/1076029612438610. Epub 2012 Mar 12.
139. Tetrahydrocurcumin ameliorates homocysteinylated cytochrome-c mediated autophagy in hyperhomocysteinemia mice after cerebral ischemia. Tyagi N, etal., J Mol Neurosci. 2012 May;47(1):128-38. doi: 10.1007/s12031-011-9695-z. Epub 2012 Jan 3.
140. Hearing impairment risk and interaction of folate metabolism related gene polymorphisms in an aging study. Uchida Y, etal., BMC Med Genet. 2011 Mar 7;12:35. doi: 10.1186/1471-2350-12-35.
141. Methylenetetrahydrofolate reductase polymorphism and minor increase of risk for oral cancer. Vairaktaris E, etal., J Cancer Res Clin Oncol. 2006 Apr;132(4):219-22. Epub 2005 Dec 20.
142. Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects. Volcik KA, etal., Birth Defects Res A Clin Mol Teratol. 2003 Mar;67(3):154-7.
143. Major determinants of hyperhomocysteinemia in peritoneal dialysis patients. Vychytil A, etal., Kidney Int. 1998 Jun;53(6):1775-82. doi: 10.1046/j.1523-1755.1998.00918.x.
144. [Study on the relations between genetic polymorphisms in methylenetetrahydrofolate reductase, methionine synthase and the risk of pancreatic cancer] Wang L, etal., Zhonghua Liu Xing Bing Xue Za Zhi. 2006 Jan;27(1):50-4.
145. Update and new concepts in vitamin responsive disorders of folate transport and metabolism. Watkins D and Rosenblatt DS, J Inherit Metab Dis. 2012 Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1. Epub 2011 Nov 23.
146. Methylenetetrahydrofolate reductase and methionine synthase reductase gene polymorphisms and protection from microvascular complications in adolescents with type 1 diabetes. Wiltshire EJ, etal., Pediatr Diabetes. 2008 Aug;9(4 Pt 2):348-53.
147. A prospective case-control study analyzes 12 thrombophilic gene mutations in Turkish couples with recurrent pregnancy loss. Yenicesu GI, etal., Am J Reprod Immunol. 2010 Feb;63(2):126-36. doi: 10.1111/j.1600-0897.2009.00770.x. Epub 2009 Nov 10.
148. The effect of IL-4 and MTHFR gene variants in ankylosing spondylitis. Yigit S, etal., Z Rheumatol. 2015 Feb;74(1):60-6. doi: 10.1007/s00393-014-1403-2.
149. C677T mutation of methylenetetrahydrofolate reductase gene and serum homocysteine levels in Turkish patients with coronary artery disease. Yilmaz H, etal., Cell Biochem Funct. 2006 Jan-Feb;24(1):87-90.
150. A comprehensive analysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease: data from Turkey. Yilmaz S, etal., J Thromb Thrombolysis. 2006 Dec;22(3):205-12.
151. Genetic polymorphisms associated with retinal vein occlusion: a Greek case-control study and meta-analysis. Yioti GG, etal., Ophthalmic Genet. 2013 Sep;34(3):130-9. doi: 10.3109/13816810.2012.746376. Epub 2013 Jan 4.
152. Synergistic association of DNA repair relevant gene polymorphisms with the risk of coronary artery disease in northeastern Han Chinese. Yu X, etal., Thromb Res. 2014 Feb;133(2):229-34. doi: 10.1016/j.thromres.2013.11.017. Epub 2013 Nov 25.
153. Genetic polymorphisms in the methylenetetrahydrofolate reductase and thymidylate synthase genes and risk of hepatocellular carcinoma. Yuan JM, etal., Hepatology. 2007 Sep;46(3):749-58. doi: 10.1002/hep.21735.
154. Methylenetetrahydrofolate reductase genetic polymorphisms in patients with cataract. Zetterberg M, etal., Am J Ophthalmol. 2005 Nov;140(5):932-4.
155. Methylenetetrahydrofolate reductase genetic polymorphisms in patients with primary open-angle glaucoma. Zetterberg M, etal., Ophthalmic Genet. 2007 Jun;28(2):47-50.
156. Genetic polymorphisms in candidate genes predict increased toxicity with methotrexate therapy in Lebanese children with acute lymphoblastic leukemia. Zgheib NK, etal., Pharmacogenet Genomics. 2014 Aug;24(8):387-96. doi: 10.1097/FPC.0000000000000069.
157. [Relationship between the methylenetetrahydrofolate reductase gene polymorphism and adverse reactions of high-dose methotrexate in children with acute lymphocytic leukemia]. Zheng MM, etal., Zhongguo Dang Dai Er Ke Za Zhi. 2013 Mar;15(3):201-6.
158. Prevalence of methylenetetrahydrofolate reductase C677T and its association with arterial and venous thrombosis in the Chinese population. Zheng YZ, etal., Br J Haematol. 2000 Jun;109(4):870-4.
159. Inherited DNA mutations contributing to thrombotic complications in patients with sickle cell disease. Zimmerman SA and Ware RE, Am J Hematol. 1998 Dec;59(4):267-72.
160. Genetic polymorphisms and the risk of progressive renal failure in elderly Hungarian patients. Zsom M, etal., Hemodial Int. 2011 Oct;15(4):501-8. doi: 10.1111/j.1542-4758.2011.00593.x. Epub 2011 Sep 13.
Additional References at PubMed
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Genomics

Comparative Map Data
Mthfr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394148,123,534 - 148,144,019 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4148,123,534 - 148,144,008 (+)EnsemblGRCm39 Ensembl
GRCm384148,039,077 - 148,059,562 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4148,039,077 - 148,059,551 (+)EnsemblGRCm38mm10GRCm38
MGSCv374147,413,186 - 147,433,671 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364146,885,022 - 146,903,349 (+)NCBIMGSCv36mm8
Celera4150,305,674 - 150,326,065 (+)NCBICelera
Cytogenetic Map4E1NCBI
cM Map478.67NCBI
MTHFR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,785,723 - 11,805,964 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,785,723 - 11,806,455 (-)EnsemblGRCh38hg38GRCh38
GRCh37111,845,780 - 11,866,021 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,768,374 - 11,788,702 (-)NCBINCBI36Build 36hg18NCBI36
Build 34111,780,944 - 11,800,248NCBI
Celera110,959,433 - 10,979,782 (-)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef111,000,872 - 11,021,217 (-)NCBIHuRef
CHM1_1111,833,709 - 11,854,054 (-)NCBICHM1_1
T2T-CHM13v2.0111,329,802 - 11,350,048 (-)NCBIT2T-CHM13v2.0
Mthfr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85163,748,346 - 163,768,141 (+)NCBIGRCr8
mRatBN7.25158,465,248 - 158,484,999 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5158,465,296 - 158,483,797 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.05164,844,642 - 164,864,360 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5164,845,925 - 164,860,910 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05168,502,556 - 168,522,350 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45165,112,850 - 165,126,885 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15165,123,406 - 165,137,073 (+)NCBI
Celera5156,747,024 - 156,766,742 (+)NCBICelera
Cytogenetic Map5q36NCBI
Mthfr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554862,096,379 - 2,112,240 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554862,096,379 - 2,112,240 (+)NCBIChiLan1.0ChiLan1.0
MTHFR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21216,418,108 - 216,434,079 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11215,063,577 - 215,079,672 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0110,548,196 - 10,568,174 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1111,766,334 - 11,785,645 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl111,766,334 - 11,785,419 (-)Ensemblpanpan1.1panPan2
MTHFR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1284,445,526 - 84,457,435 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl284,380,919 - 84,536,818 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha280,977,302 - 80,990,296 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0285,109,058 - 85,123,378 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl285,109,070 - 85,122,016 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1281,858,180 - 81,870,539 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0282,857,476 - 82,872,293 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0283,920,334 - 83,933,329 (+)NCBIUU_Cfam_GSD_1.0
Mthfr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505834,798,656 - 34,813,131 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936474623,291 - 638,193 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936474623,438 - 637,849 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTHFR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl671,863,637 - 71,881,820 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1671,863,637 - 71,882,118 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2665,776,804 - 65,791,405 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MTHFR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120119,987,667 - 120,003,611 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20119,990,133 - 120,002,950 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605423,855,633 - 23,871,475 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mthfr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248181,187,869 - 1,199,168 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248181,184,736 - 1,202,708 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Mthfr
99 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4167
Count of miRNA genes:783
Interacting mature miRNAs:1058
Transcripts:ENSMUST00000069604, ENSMUST00000097788, ENSMUST00000125978, ENSMUST00000141283, ENSMUST00000145115, ENSMUST00000152498, ENSMUST00000156113
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
13503348Bntq18_mbone traits QTL 18 (mouse)4120617848154617995Mouse
1301823Bmd7_mbone mineral density 7 (mouse)Not determined488982069151654550Mouse
1301108Scon2_msucrose consumption 2 (mouse)Not determined4134654451156860686Mouse
1300553Athsq1_matherosclerosis susceptibility QTL 1 (mouse)Not determined4137617848151654550Mouse
4142493Femwf13_mfemur work to failure 13 (mouse)Not determined116154678150154782Mouse
1302102Bis1_mbeta-carboline-induced seizures 1 (mouse)Not determined4119864433153864536Mouse
10045620Heal22_mwound healing/regeneration 22 (mouse)Not determined4125230872156860686Mouse
4142481Gct1_mgranulosa cell tumorigenesis 1 (mouse)Not determined4127784226156860686Mouse
4142139Adip12_madiposity 12 (mouse)Not determined4124621281156860686Mouse
1301982Pltiq1_mphospholipid transfer protein inducibility QTL 1 (mouse)Not determined4124621281156860686Mouse
1300933Cdcs9_mcytokine deficiency colitis susceptibility 9 (mouse)Not determined4125230872156860686Mouse
12738431Lfibq20_mliver fibrosis QTL 20 (mouse)4144699835148907426Mouse
1301964Bw8q2_mbody weight at 8 weeks QTL 2 (mouse)Not determined4119864433153864536Mouse
1301267Bcmd2_mB cell maturation defect 2 (mouse)Not determined4133154678150789451Mouse
1300537Ap3q_malcohol preference 3 QTL (mouse)Not determined4134654451156860686Mouse
1302078Sluc21_msusceptibility to lung cancer 21 (mouse)Not determined4117401141151401275Mouse
1300874Gasa2_mgastritis type A susceptibility locus 2 (mouse)Not determined4133010494156860686Mouse
14746982Manh56_mmandible shape 56 (mouse)4117815917151815917Mouse
11533916Mts1_mmammary tumor susceptibility 1 (mouse)4125289325156860686Mouse
10412210Cypr6_mcytokine production 6 (mouse)Not determined4120617848154617995Mouse
1301452Elsgp1_melevated serum gp70 1 (mouse)Not determined4121342649155342753Mouse
10755531Lymph3_mlymphocyte differential 3 (mouse)4124553483156860686Mouse
10043996Gct5_mgranulosa cell tumorigenesis 5 (mouse)Not determined4127784226156860686Mouse
1301584Lrdg2_mlight induced retinal degeneration 2 (mouse)Not determined4129465811151654550Mouse
4142077Ignpq2_mIgA nephropathy QTL 2 (mouse)Not determined4133676733156860686Mouse
1301815Sles2_msystemic lupus erythmatosus suppressor 2 (mouse)Not determined494957579150676858Mouse
1300858Tafat_mtally ho associated mesenteric fat pad weight (mouse)Not determined4124621281156860686Mouse
1300621Tpnr1_mthermal pain response 1 (mouse)Not determined4125230872156860686Mouse
10043985Stheal12_msoft tissue heal 12 (mouse)Not determined4121342649155342753Mouse
11567249Elorr3_methanol induced loss of righting response 3 (mouse)43722677156268235Mouse
4141180Ssic1_msusceptibility to small intestinal cancer 1 (mouse)Not determined120674005154674151Mouse
4142061Chlq16_mcirculating hormone level QTL 16 (mouse)Not determined4121342649155342753Mouse
1301525Lmb1_mlupus in MRL and B6 F2 cross (mouse)Not determined4124264957150676858Mouse
1300780Cocrb16_mcocaine related behavior 16 (mouse)Not determined4138943725156860686Mouse
26884445Sklq7_mskull length QTL 7, 10 week (mouse)468018237150884457Mouse
1300803Sluc6_msusceptibility to lung cancer 6 (mouse)Not determined4120674005154674151Mouse
26884437Sklq13_mskull length QTL 13, 16 week (mouse)457700000155684457Mouse
4141184Tb2r1_mTGF-beta2 responsiveness 1 (mouse)Not determined137674005150676858Mouse

Markers in Region
AI323986  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm384148,059,172 - 148,059,302UniSTSGRCm38
MGSCv374147,433,281 - 147,433,411UniSTSGRCm37
Celera4150,325,675 - 150,325,805UniSTS
Cytogenetic Map4E2UniSTS
cM Map476.4UniSTS
Whitehead/MRC_RH41918.76UniSTS
Mthfr  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm384148,053,649 - 148,055,035UniSTSGRCm38
MGSCv374147,427,758 - 147,429,144UniSTSGRCm37
Celera4150,320,186 - 150,321,538UniSTS
Cytogenetic Map4E2UniSTS
cM Map476.4UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001161798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_010840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF398931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF398934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF404270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF404271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF404272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF404273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF404274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK030192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK043144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK149795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK150159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK191706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK199913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK219632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY046557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BB726553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENSMUST00000069604   ⟹   ENSMUSP00000069774
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl4148,125,648 - 148,144,008 (+)Ensembl
GRCm38.p6 Ensembl4148,041,191 - 148,059,551 (+)Ensembl
RefSeq Acc Id: ENSMUST00000097788   ⟹   ENSMUSP00000095395
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl4148,123,534 - 148,140,663 (+)Ensembl
GRCm38.p6 Ensembl4148,039,077 - 148,056,206 (+)Ensembl
RefSeq Acc Id: ENSMUST00000125978
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl4148,126,059 - 148,128,413 (+)Ensembl
GRCm38.p6 Ensembl4148,041,602 - 148,043,956 (+)Ensembl
RefSeq Acc Id: ENSMUST00000141283   ⟹   ENSMUSP00000116239
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl4148,123,616 - 148,129,011 (+)Ensembl
GRCm38.p6 Ensembl4148,039,159 - 148,044,554 (+)Ensembl
RefSeq Acc Id: ENSMUST00000145115
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl4148,125,267 - 148,127,905 (+)Ensembl
GRCm38.p6 Ensembl4148,040,810 - 148,043,448 (+)Ensembl
RefSeq Acc Id: ENSMUST00000152498   ⟹   ENSMUSP00000117095
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl4148,125,744 - 148,144,008 (+)Ensembl
GRCm38.p6 Ensembl4148,041,287 - 148,059,551 (+)Ensembl
RefSeq Acc Id: ENSMUST00000156113   ⟹   ENSMUSP00000116840
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl4148,137,135 - 148,144,005 (+)Ensembl
GRCm38.p6 Ensembl4148,052,678 - 148,059,548 (+)Ensembl
RefSeq Acc Id: NM_001161798   ⟹   NP_001155270
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm394148,125,646 - 148,144,019 (+)NCBI
GRCm384148,041,189 - 148,059,562 (+)NCBI
MGSCv374147,413,186 - 147,433,671 (+)RGD
Celera4150,305,674 - 150,326,065 (+)RGD
cM Map4 ENTREZGENE
Sequence:
RefSeq Acc Id: NM_010840   ⟹   NP_034970
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm394148,123,534 - 148,144,019 (+)NCBI
GRCm384148,039,077 - 148,059,562 (+)NCBI
MGSCv374147,413,186 - 147,433,671 (+)RGD
Celera4150,305,674 - 150,326,065 (+)RGD
cM Map4 ENTREZGENE
Sequence:
RefSeq Acc Id: NR_027809
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm394148,125,646 - 148,144,019 (+)NCBI
GRCm384148,041,189 - 148,059,562 (+)NCBI
MGSCv374147,413,186 - 147,433,671 (+)RGD
Celera4150,305,674 - 150,326,065 (+)RGD
cM Map4 ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_001155270 (Get FASTA)   NCBI Sequence Viewer  
  NP_034970 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD20313 (Get FASTA)   NCBI Sequence Viewer  
  AAH51017 (Get FASTA)   NCBI Sequence Viewer  
  AAH52466 (Get FASTA)   NCBI Sequence Viewer  
  AAI00551 (Get FASTA)   NCBI Sequence Viewer  
  AAL17641 (Get FASTA)   NCBI Sequence Viewer  
  AAL17642 (Get FASTA)   NCBI Sequence Viewer  
  AAN40867 (Get FASTA)   NCBI Sequence Viewer  
  AAN40868 (Get FASTA)   NCBI Sequence Viewer  
  AAN40872 (Get FASTA)   NCBI Sequence Viewer  
  AAN40873 (Get FASTA)   NCBI Sequence Viewer  
  AAN40874 (Get FASTA)   NCBI Sequence Viewer  
  AAN40875 (Get FASTA)   NCBI Sequence Viewer  
  AAN40876 (Get FASTA)   NCBI Sequence Viewer  
  BAC26832 (Get FASTA)   NCBI Sequence Viewer  
  BAE29349 (Get FASTA)   NCBI Sequence Viewer  
  BAE43318 (Get FASTA)   NCBI Sequence Viewer  
  EDL14794 (Get FASTA)   NCBI Sequence Viewer  
  EDL14795 (Get FASTA)   NCBI Sequence Viewer  
  EDL14796 (Get FASTA)   NCBI Sequence Viewer  
  EDL14797 (Get FASTA)   NCBI Sequence Viewer  
  EDL14798 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSMUSP00000069774
  ENSMUSP00000069774.9
  ENSMUSP00000095395
  ENSMUSP00000095395.5
  ENSMUSP00000116239.2
  ENSMUSP00000116840.2
  ENSMUSP00000117095.2
GenBank Protein Q9WU20 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_034970   ⟸   NM_010840
- Peptide Label: isoform b
- UniProtKB: Q8CDE4 (UniProtKB/Swiss-Prot),   Q9WU20 (UniProtKB/Swiss-Prot),   F6Z4F8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001155270   ⟸   NM_001161798
- Peptide Label: isoform a
- UniProtKB: A2A7F7 (UniProtKB/TrEMBL),   Q3UDB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSMUSP00000117095   ⟸   ENSMUST00000152498
RefSeq Acc Id: ENSMUSP00000069774   ⟸   ENSMUST00000069604
RefSeq Acc Id: ENSMUSP00000095395   ⟸   ENSMUST00000097788
RefSeq Acc Id: ENSMUSP00000116840   ⟸   ENSMUST00000156113
RefSeq Acc Id: ENSMUSP00000116239   ⟸   ENSMUST00000141283

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9WU20-F1-model_v2 AlphaFold Q9WU20 1-654 view protein structure

Promoters
RGD ID:6835715
Promoter ID:MM_KWN:40796
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   3T3L1_Day6,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:ENSMUST00000030879,   ENSMUST00000094479,   NM_010840,   OTTMUST00000023687,   OTTMUST00000023694,   OTTMUST00000023695,   OTTMUST00000023696,   OTTMUST00000023697,   UC008VTV.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv364147,411,806 - 147,413,957 (+)MPROMDB
RGD ID:6835709
Promoter ID:MM_KWN:40797
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   3T3L1_Day6,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Lung,   MEF_B4,   MEF_B6
Transcripts:NM_001161798,   NR_027809,   OTTMUST00000023692,   UC008VTY.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv364147,414,361 - 147,415,452 (+)MPROMDB
RGD ID:6835712
Promoter ID:MM_KWN:40798
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Lung
Transcripts:OTTMUST00000023689
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv364147,425,851 - 147,426,657 (+)MPROMDB
RGD ID:6885492
Promoter ID:EPDNEW_M6197
Type:initiation region
Name:Mthfr_2
Description:Mus musculus methylenetetrahydrofolate reductase , transcriptvariant 1, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M6198  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm384148,039,169 - 148,039,229EPDNEW
RGD ID:6885494
Promoter ID:EPDNEW_M6198
Type:multiple initiation site
Name:Mthfr_1
Description:Mus musculus methylenetetrahydrofolate reductase , transcriptvariant 1, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M6197  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm384148,041,189 - 148,041,249EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:106639 AgrOrtholog
Ensembl Genes ENSMUSG00000029009 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000069604 ENTREZGENE
  ENSMUST00000069604.15 UniProtKB/TrEMBL
  ENSMUST00000097788 ENTREZGENE
  ENSMUST00000097788.11 UniProtKB/Swiss-Prot
  ENSMUST00000141283.8 UniProtKB/TrEMBL
  ENSMUST00000152498.8 UniProtKB/TrEMBL
  ENSMUST00000156113.2 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.220 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro FAD-linked_oxidoreductase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fadh2_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mehydrof_redctse UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:17769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:106639 ENTREZGENE
NCBI Gene 17769 ENTREZGENE
PANTHER METHYLENETETRAHYDROFOLATE REDUCTASE UniProtKB/Swiss-Prot
  METHYLENETETRAHYDROFOLATE REDUCTASE UniProtKB/Swiss-Prot
  METHYLENETETRAHYDROFOLATE REDUCTASE UniProtKB/TrEMBL
  METHYLENETETRAHYDROFOLATE REDUCTASE UniProtKB/TrEMBL
Pfam MTHFR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MTHFR RGD
PhenoGen Mthfr PhenoGen
Superfamily-SCOP SSF51730 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2A7F7 ENTREZGENE, UniProtKB/TrEMBL
  A2A7F9_MOUSE UniProtKB/TrEMBL
  F6Z4F8 ENTREZGENE, UniProtKB/TrEMBL
  F7BGN3_MOUSE UniProtKB/TrEMBL
  MTHR_MOUSE UniProtKB/Swiss-Prot
  Q3UDB2 ENTREZGENE, UniProtKB/TrEMBL
  Q3V399_MOUSE UniProtKB/TrEMBL
  Q497H7_MOUSE UniProtKB/TrEMBL
  Q8BHN2_MOUSE UniProtKB/TrEMBL
  Q8CDE4 ENTREZGENE
  Q8CJA5_MOUSE UniProtKB/TrEMBL
  Q8CJA6_MOUSE UniProtKB/TrEMBL
  Q8CJA7_MOUSE UniProtKB/TrEMBL
  Q8CJA8_MOUSE UniProtKB/TrEMBL
  Q8CJA9_MOUSE UniProtKB/TrEMBL
  Q9WU20 ENTREZGENE
UniProt Secondary Q8CDE4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-12-12 Mthfr  methylenetetrahydrofolate reductase    5,10-methylenetetrahydrofolate reductase  Symbol and/or name change 5135510 APPROVED