Mthfr (methylenetetrahydrofolate reductase) - Rat Genome Database

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Gene: Mthfr (methylenetetrahydrofolate reductase) Rattus norvegicus
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Symbol: Mthfr
Name: methylenetetrahydrofolate reductase
RGD ID: 1309952
Description: Enables NADP binding activity; flavin adenine dinucleotide binding activity; and methylenetetrahydrofolate reductase (NAD(P)H) activity. Involved in several processes, including homocysteine metabolic process; response to interleukin-1; and response to vitamin B2. Biomarker of hyperthyroidism; hypothyroidism; and liver benign neoplasm. Human ortholog(s) of this gene implicated in several diseases, including carcinoma (multiple); cardiovascular system disease (multiple); hematologic cancer (multiple); kidney failure (multiple); and liver disease (multiple). Orthologous to human MTHFR (methylenetetrahydrofolate reductase); PARTICIPATES IN altered folate cycle metabolic pathway; altered folate mediated one-carbon metabolic pathway; folate cycle metabolic pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-acetamidofluorene; 3,3',4,4',5-pentachlorobiphenyl.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 5,10-methylenetetrahydrofolate reductase; 5,10-methylenetetrahydrofolate reductase (NADPH); LOC362657; methylenetetrahydrofolate reductase (NAD(P)H); methylenetetrahydrofolate reductase (NADPH)
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: Mthfrem1Mcwi  
Genetic Models: SS-Mthfrem1Mcwi
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Original Reference(s)
MthfrRatabdominal aortic aneurysm  ISOMTHFR (Homo sapiens)6893584DNA:transition:cds:g.677C>T (human)RGD 
MthfrRatacute lymphoblastic leukemia disease_progressionISOMTHFR (Homo sapiens)10449398DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)RGD 
MthfrRatacute lymphoblastic leukemia treatmentISOMTHFR (Homo sapiens)10449407DNA:missense mutation:cds:677C>T (human)RGD 
MthfrRatacute myeloid leukemia  ISOMTHFR (Homo sapiens)10449408DNA:SNPs: :677C>T and 1298A>C(human)RGD 
MthfrRatAlbuminuria susceptibilityISOMTHFR (Homo sapiens)6893631associated with Diabetes Mellitus more ...RGD 
MthfrRatalcoholic liver cirrhosis susceptibilityISOMTHFR (Homo sapiens)14696749DNA:SNP: :677C>T(human)RGD 
MthfrRatamyotrophic lateral sclerosis susceptibilityISOMTHFR (Homo sapiens)11565111DNA:polymorphism: :c.677C>T(human) RGD 
MthfrRatamyotrophic lateral sclerosis no_associationISOMTHFR (Homo sapiens)11565173DNA:polymorphism: :c.677C>T(human) RGD 
MthfrRatanemia susceptibilityISOMTHFR (Homo sapiens)11080979associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma and DNA:SNP:: rs1801133(human) RGD 
MthfrRatangle-closure glaucoma susceptibilityISOMTHFR (Homo sapiens)7387250DNA:SNPs: :677C>T and 1298A>C(human)RGD 
MthfrRatankylosing spondylitis susceptibilityISOMTHFR (Homo sapiens)42722610DNA:SNP:cds:677C>T (human)RGD 
MthfrRatAortic Coarctation  ISOMTHFR (Homo sapiens)4891157DNA:transition:cds:g.677C>T (human)RGD 
MthfrRataphthous stomatitis severityISOMTHFR (Homo sapiens)10449402DNA:missense mutation:cds:677C>T (rs1801133) (human)RGD 
MthfrRatArterial Occlusive Diseases  ISOMTHFR (Homo sapiens)10449401DNA:SNP: :677C>T (human)RGD 
MthfrRatasthma  ISOMTHFR (Homo sapiens)4891145DNA:transition:cds:g.677C>T (human)RGD 
MthfrRatatherosclerosis severityISOMTHFR (Homo sapiens)6893579associated with Kidney Failure more ...RGD 
MthfrRatattention deficit hyperactivity disorder susceptibilityISOMTHFR (Homo sapiens)11565107DNA:polymorphism: :1298A>C(human)RGD 
MthfrRatattention deficit hyperactivity disorder no_associationISOMTHFR (Homo sapiens)11565109DNA:SNP: :1298A>C and 677C>T(human) RGD 
MthfrRatBanti's Syndrome susceptibilityISOMTHFR (Homo sapiens)10755472DNA:SNPs: :DNA:SNPs: :677C>T and 1298A>C(human)RGD 
MthfrRatBudd-Chiari syndrome  ISOMTHFR (Homo sapiens)10449395DNA:transition: :677C>T (human)RGD 
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MthfrRatautistic disorder  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Autistic disorder of childhood onsetClinVarPMID:28492532
MthfrRatCharcot-Marie-Tooth disease type 2  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2ClinVarPMID:28492532
MthfrRatchromosome 1p36 deletion syndrome  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Chromosome 1p36 deletion syndromeClinVar 
MthfrRatCognitive Dysfunction  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Mental deteriorationClinVarPMID:25741868
MthfrRatDevelopmental Disabilities  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Global developmental delayClinVarPMID:25741868
MthfrRatEhlers-Danlos syndrome kyphoscoliotic type 1  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome and kyphoscoliotic type 1ClinVarPMID:28492532
MthfrRatepilepsy with generalized tonic-clonic seizures  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Generalized tonic-clonic seizuresClinVarPMID:25741868
MthfrRatFamilial Atrial Fibrillation 6  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Atrial fibrillation more ...ClinVarPMID:28492532
MthfrRatFolate-Sensitive Neural Tube Defects  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Neural tube defects and folate-sensitiveClinVarPMID:10196703 more ...
MthfrRatgastrointestinal stromal tumor  ISOMTHFR (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10196703 more ...
MthfrRatgastrointestinal stromal tumor  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Gastrointestinal Stromal SarcomaClinVarPMID:10196703 more ...
MthfrRatgastrointestinal stromal tumor  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Gastrointestinal stromal tumorClinVarPMID:10196703 more ...
MthfrRatgastrointestinal stromal tumor  ISOMTHFR (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10196703 more ...
MthfrRatgenetic disease  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28492532
MthfrRatintellectual disability  ISOMTHFR (Homo sapiens)8554872ClinVar more ...ClinVarPMID:12733064 more ...
MthfrRatMethylenetetrahydrofolate Reductase Deficiency  ISOMTHFR (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10196703 more ...
MthfrRatMethylenetetrahydrofolate Reductase Deficiency  ISOMTHFR (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10196703 more ...
MthfrRatMthfr Deficiency, Thermolabile Type  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: MTHFR deficiency and thermolabile typeClinVarPMID:10196703 more ...
MthfrRatneural tube defect  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Neural tube defectClinVarPMID:25736335 and PMID:25741868
MthfrRatprostate cancer  ISOMTHFR (Homo sapiens)8554872ClinVar Annotator: match by term: Malignant tumor of prostateClinVarPMID:23265383
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MthfrRatacute kidney failure  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:17387702
MthfrRatacute lymphoblastic leukemia  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:16706930
MthfrRatallergic disease  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:16766537
MthfrRatalopecia  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:18381794
MthfrRatAlzheimer's disease  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:17192785
MthfrRatanemia  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:19391036 and PMID:25007187
MthfrRatArsenic Poisoning  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:24384392
MthfrRatautism spectrum disorder  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:35663546
MthfrRatautistic disorder  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:19267885
MthfrRatB-Cell Chronic Lymphocytic Leukemia  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:16706930
MthfrRatbipolar disorder  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:17074966
MthfrRatbrain ischemia  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:15534175
MthfrRatBreast Neoplasms  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:16777985 more ...
MthfrRatcardiovascular system disease  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:16958597 and PMID:25050994
MthfrRatcervix uteri carcinoma in situ  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:17303386
MthfrRatChemical and Drug Induced Liver Injury  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:18551038 and PMID:19648163
MthfrRatcleft lip  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:16470725
MthfrRatclubfoot  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:16936070
MthfrRatColonic Neoplasms  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:16284371
MthfrRatColorectal Neoplasms  ISOMTHFR (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:15608557 more ...
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MthfrRatneural tube defect  ISSMthfr (Mus musculus)13592920OMIM:301410 more ...MouseDO 
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MthfrRatFolate-Sensitive Neural Tube Defects susceptibilityISOMTHFR (Homo sapiens)7240710 OMIM 
MthfrRatMethylenetetrahydrofolate Reductase Deficiency susceptibilityISOMTHFR (Homo sapiens)7240710 OMIM 
MthfrRatschizophrenia susceptibilityISOMTHFR (Homo sapiens)7240710 OMIM 
MthfrRatthrombophilia due to thrombin defect susceptibilityISOMTHFR (Homo sapiens)7240710 OMIM 

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MthfrRat(1->4)-beta-D-glucan multiple interactionsISOMthfr (Mus musculus)6480464[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of MTHFR mRNACTDPMID:36331819
MthfrRat1,2-dichloroethane increases expressionISOMthfr (Mus musculus)6480464ethylene dichloride results in increased expression of MTHFR mRNACTDPMID:28960355
MthfrRat17beta-estradiol increases expressionISOMthfr (Mus musculus)6480464Estradiol results in increased expression of MTHFR mRNACTDPMID:39298647
MthfrRat17beta-estradiol decreases expressionISOMTHFR (Homo sapiens)6480464Estradiol results in decreased expression of MTHFR mRNACTDPMID:31614463
MthfrRat2,2',4,4',5,5'-hexachlorobiphenyl multiple interactionsISOMthfr (Mus musculus)6480464[2 more ...CTDPMID:25510870
MthfrRat2,2',4,4'-Tetrabromodiphenyl ether affects expressionISOMthfr (Mus musculus)64804642 more ...CTDPMID:30294300
MthfrRat2,2',5,5'-tetrachlorobiphenyl multiple interactionsISOMthfr (Mus musculus)6480464[2 more ...CTDPMID:25510870
MthfrRat2,3,7,8-tetrachlorodibenzodioxine affects expressionISOMthfr (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of MTHFR mRNACTDPMID:28922406
MthfrRat2,3,7,8-tetrachlorodibenzodioxine increases expressionEXP 6480464Tetrachlorodibenzodioxin results in increased expression of MTHFR mRNACTDPMID:33387578
MthfrRat2-acetamidofluorene decreases methylationEXP 64804642-Acetylaminofluorene results in decreased methylation of MTHFR promoterCTDPMID:22213190
MthfrRat2-acetamidofluorene decreases expressionEXP 64804642-Acetylaminofluorene results in decreased expression of MTHFR mRNACTDPMID:22213190
MthfrRat2-butoxyethanol increases expressionISOMthfr (Mus musculus)6480464n-butoxyethanol results in increased expression of MTHFR mRNACTDPMID:19812364
MthfrRat3,3',4,4',5-pentachlorobiphenyl multiple interactionsEXP 6480464AHR gene mutant form inhibits the reaction [3 more ...CTDPMID:34256052
MthfrRat3,3',4,4',5-pentachlorobiphenyl increases expressionEXP 64804643 more ...CTDPMID:34256052
MthfrRat3-chloropropane-1,2-diol increases expressionEXP 6480464alpha-Chlorohydrin results in increased expression of MTHFR mRNACTDPMID:28522335
MthfrRat4,4'-sulfonyldiphenol increases expressionISOMthfr (Mus musculus)6480464bisphenol S results in increased expression of MTHFR mRNACTDPMID:39298647
MthfrRat4,4'-sulfonyldiphenol decreases methylationISOMTHFR (Homo sapiens)6480464bisphenol S results in decreased methylation of MTHFR geneCTDPMID:31601247
MthfrRat5,10-methylenetetrahydrofolic acid increases metabolic processingISOMTHFR (Homo sapiens)6480464MTHFR protein results in increased metabolism of 5 and 10-methylenetetrahydrofolic acidCTDPMID:16187112
MthfrRat5,10-methylenetetrahydrofolic acid increases reductionISOMTHFR (Homo sapiens)6480464MTHFR protein results in increased reduction of 5 and 10-methylenetetrahydrofolic acidCTDPMID:7647779
MthfrRat5-fluorouracil multiple interactionsISOMTHFR (Homo sapiens)6480464MTHFR gene polymorphism results in increased susceptibility to [Fluorouracil co-treated with Leucovorin]CTDPMID:18633250

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Biological Process
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MthfrRatheterochromatin organization acts_upstream_ofISOMTHFR (Homo sapiens)1624291 PMID:24769206RGDPMID:24769206
MthfrRatheterochromatin organization acts_upstream_ofIEAUniProtKB:P42898 and ensembl:ENSP000003657751600115GO_REF:0000107EnsemblGO_REF:0000107
MthfrRathomocysteine metabolic process  IEP 2317121 RGD 
MthfrRathomocysteine metabolic process involved_inIEAUniProtKB:P42898 and ensembl:ENSP000003657751600115GO_REF:0000107EnsemblGO_REF:0000107
MthfrRathomocysteine metabolic process involved_inISOMTHFR (Homo sapiens)1624291 PMID:20031578RGDPMID:20031578
MthfrRatmethionine biosynthetic process acts_upstream_of_or_withinISOMthfr (Mus musculus)1624291MGI:2385823 PMID:15217352RGDPMID:15217352
MthfrRatmethionine biosynthetic process involved_inIBAMGI:106639 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
MthfrRatmethionine metabolic process involved_inISOMTHFR (Homo sapiens)1624291UniProtKB:P53128 and PMID:10551815RGDPMID:10551815
MthfrRatmethionine metabolic process involved_inIEAInterPro:IPR003171 and InterPro:IPR0046211600115GO_REF:0000002InterProGO_REF:0000002
MthfrRatmethionine metabolic process involved_inIEAUniProtKB:P42898 and ensembl:ENSP000003657751600115GO_REF:0000107EnsemblGO_REF:0000107
MthfrRatneural tube closure acts_upstream_ofISOMTHFR (Homo sapiens)1624291 PMID:25855017 and PMID:29222906RGDPMID:25855017 and PMID:29222906
MthfrRatneural tube closure acts_upstream_ofIEAUniProtKB:P42898 and ensembl:ENSP000003657751600115GO_REF:0000107EnsemblGO_REF:0000107
MthfrRatresponse to amino acid  IEP 6893691methionineRGD 
MthfrRatresponse to folic acid  IEP 6893667 RGD 
MthfrRatresponse to hypoxia  IEP 1359026 RGD 
MthfrRatresponse to interleukin-1  IEP 2317121 RGD 
MthfrRatresponse to vitamin B2  IEP 2317124 RGD 
MthfrRatresponse to xenobiotic stimulus  IEP 2317123primidone RGD 
MthfrRatresponse to xenobiotic stimulus  IEP 2317125sodium valproateRGD 
MthfrRatresponse to xenobiotic stimulus  IEP 2317127phenytoinRGD 
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Cellular Component

  
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MthfrRatcytosol is_active_inISOMthfr (Mus musculus)1624291 PMID:11181567RGDPMID:11181567

Molecular Function
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MthfrRatFAD binding enablesIBAPANTHER:PTN000472667 and UniProtKB:P0AEZ11600115GO_REF:0000033GO_CentralGO_REF:0000033
MthfrRatflavin adenine dinucleotide binding  IDA 1601423 RGD 
MthfrRatflavin adenine dinucleotide binding enablesIEAUniProtKB:P42898 and ensembl:ENSP000003657751600115GO_REF:0000107EnsemblGO_REF:0000107
MthfrRatflavin adenine dinucleotide binding enablesISOMTHFR (Homo sapiens)1624291 PMID:12673793RGDPMID:12673793
MthfrRatmethylenetetrahydrofolate reductase (NAD(P)H) activity  IDA 1601423 RGD 
MthfrRatmethylenetetrahydrofolate reductase (NAD(P)H) activity enablesIEAUniProtKB:P42898 and ensembl:ENSP000003657751600115GO_REF:0000107EnsemblGO_REF:0000107
MthfrRatmethylenetetrahydrofolate reductase (NAD(P)H) activity enablesIEAInterPro:IPR003171 and InterPro:IPR0046211600115GO_REF:0000002InterProGO_REF:0000002
MthfrRatmethylenetetrahydrofolate reductase (NAD(P)H) activity enablesISOMthfr (Mus musculus)1624291MGI:2385823 PMID:15217352RGDPMID:15217352
MthfrRatmethylenetetrahydrofolate reductase (NAD(P)H) activity enablesIEAARBA:ARBA000335941600115GO_REF:0000117UniProtGO_REF:0000117
MthfrRatmethylenetetrahydrofolate reductase (NAD(P)H) activity enablesIBAMGI:106639 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
MthfrRatmethylenetetrahydrofolate reductase (NAD(P)H) activity enablesIEAEC:1.5.1.201600115GO_REF:0000003UniProtGO_REF:0000003
MthfrRatmethylenetetrahydrofolate reductase (NAD(P)H) activity enablesISOMTHFR (Homo sapiens)1624291UniProtKB:P53128 more ...RGDPMID:10551815 more ...
MthfrRatmethylenetetrahydrofolate reductase (NADPH) activity enablesISOMthfr (Mus musculus)1624291MGI:2385823 PMID:11181567RGDPMID:11181567
MthfrRatmodified amino acid binding enablesISOMTHFR (Homo sapiens)1624291 PMID:20031578RGDPMID:20031578
MthfrRatmodified amino acid binding enablesIEAUniProtKB:P42898 and ensembl:ENSP000003657751600115GO_REF:0000107EnsemblGO_REF:0000107
MthfrRatNADP binding  IDA 1601423 RGD 
MthfrRatoxidoreductase activity enablesIEAUniProtKB-KW:KW-05601600115GO_REF:0000043UniProtGO_REF:0000043
MthfrRatprotein binding enablesISOMTHFR (Homo sapiens)1624291UniProtKB:O60906 more ...RGDPMID:28514442 and PMID:33961781
MthfrRatprotein-containing complex binding enablesISOMTHFR (Homo sapiens)1624291ComplexPortal:CPX-2007 PMID:24769206RGDPMID:24769206
MthfrRatprotein-containing complex binding enablesIEAUniProtKB:P42898 and ensembl:ENSP000003657751600115GO_REF:0000107EnsemblGO_REF:0000107
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Imported Annotations - KEGG (archival)

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MthfrRatfolate mediated one-carbon metabolic pathway   IEA 6907045 KEGGrno:00670
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MthfrRatincreased heart weight  IMP 8662415as compared to the wild-typeRGD 
MthfrRatincreased urine protein level  IMP 8662415as compared to the wild-typeRGD 

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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. The effect of riboflavin deficiency on methylenetetrahydrofolate reductase (NADPH) (EC 1.5.1.20) and folate metabolism in the rat. Bates CJ and Fuller NJ, Br J Nutr. 1986 Mar;55(2):455-64.
6. 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.
7. Hyperhomocysteinemia and hypercoagulability in primary biliary cirrhosis. Biagini MR, etal., World J Gastroenterol. 2006 Mar 14;12(10):1607-12.
8. Mild neonatal hypoxia exacerbates the effects of vitamin-deficient diet on homocysteine metabolism in rats. Blaise S, etal., Pediatr Res 2005 Jun;57(6):777-82. Epub 2005 Apr 21.
9. 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.
10. 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.
11. 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.
12. 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.
13. Methylenetetrahydrofolate reductase in the rat central nervous system: intracellular and regional distribution. Burton EG and Sallach HJ, Arch Biochem Biophys. 1975 Feb;166(2):483-94.
14. 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.
15. 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.
16. Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms. Capaccio P, etal., Genet Med. 2005 Mar;7(3):206-8.
17. Effect of chronic phenobarbital treatment on folates and one-carbon enzymes in the rat. Carl GF and Smith DB, Biochem Pharmacol. 1984 Nov 1;33(21):3457-63.
18. The effect of chronic phenytoin treatment on tissue folate concentrations and on the activities of the methyl synthetic enzymes in the rat. Carl GF and Smith DB, J Nutr. 1983 Nov;113(11):2368-74.
19. Effect of chronic valproate treatment on folate-dependent methyl biosynthesis in the rat. Carl GF Neurochem Res. 1986 May;11(5):671-85.
20. Effect of chronic primidone treatment on folate-dependent one-carbon metabolism in the rat. Carl GF, etal., Biochem Pharmacol. 1987 Jul 1;36(13):2139-44.
1 to 20 of 173 rows
PMID:10551815   PMID:12673793   PMID:15217352   PMID:20031578   PMID:24769206   PMID:25736335   PMID:25855017   PMID:29222906  



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
(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
(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
(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 in Mthfr
281 total Variants

Predicted Target Of
Summary Value
Count of predictions:106
Count of miRNA genes:91
Interacting mature miRNAs:97
Transcripts:ENSRNOT00000011384
Prediction methods:Microtar, 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.


1 to 10 of 24 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
10053720Scort26Serum corticosterone level QTL 262.060.0147blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)5124965598166875058Rat
631272Lanf1Left ventricular atrial natriuretic factor QTL 112heart left ventricle natriuretic peptide A amount (VT:0010596)heart left ventricle natriuretic peptide A level (CMO:0002165)5151113452166875058Rat
1576314Eutr1Estrogen induced uterine response QTL 1uterus integrity trait (VT:0010575)pyometritis severity score (CMO:0002009)52138965166875058Rat
2302369Scl60Serum cholesterol level QTL 603.13blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)5143608201161165651Rat
631562Apr2Acute phase response QTL 23.7blood murinoglobulin 1 amount (VT:0010597)plasma murinoglobulin 1 level (CMO:0001931)5135927956166875058Rat
634349Bp139Blood pressure QTL 1390.001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5128924607166875058Rat
61444Strs2Sensitivity to stroke QTL 24.7cerebrum integrity trait (VT:0010549)post-insult time to onset of cerebrovascular lesion (CMO:0002343)5135929696166875058Rat
724525Bp147Blood pressure QTL 1474.30.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5126424772166875058Rat
1549904Neuinf1Neuroinflammation QTL 130nervous system integrity trait (VT:0010566)blood T lymphocyte count (CMO:0000110)5154828214166875058Rat
738018Anxrr4Anxiety related response QTL 45.1exploratory behavior trait (VT:0010471)percentage of entries into a discrete space in an experimental apparatus (CMO:0000961)5130130159166875058Rat

1 to 10 of 24 rows

This gene Mthfr is modified in the following models/strains:
SS-Mthfrem1Mcwi    




alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 49 113 91 90 59 25 59 6 218 97 93 45 60 31


1 to 17 of 17 rows
RefSeq Transcripts NM_001427042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_001074061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006225611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006225612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006225614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006225615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006225616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_342975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC094126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH473968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAXUCZ010000005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 17 of 17 rows

Ensembl Acc Id: ENSRNOT00000011384   ⟹   ENSRNOP00000011384
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl5158,465,296 - 158,483,797 (+)Ensembl
Rnor_6.0 Ensembl5164,845,925 - 164,860,910 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000102508   ⟹   ENSRNOP00000085916
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl5158,467,151 - 158,483,797 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000118752   ⟹   ENSRNOP00000086290
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl5158,465,415 - 158,483,797 (+)Ensembl
RefSeq Acc Id: NM_001427042   ⟹   NP_001413971
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85163,748,554 - 163,768,105 (+)NCBI
RefSeq Acc Id: XM_006239413   ⟹   XP_006239475
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85163,748,919 - 163,768,141 (+)NCBI
mRatBN7.25158,465,774 - 158,484,999 (+)NCBI
Rnor_6.05164,845,192 - 164,864,360 (+)NCBI
Rnor_5.05168,502,556 - 168,522,350 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006239414   ⟹   XP_006239476
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85163,748,346 - 163,768,141 (+)NCBI
mRatBN7.25158,465,248 - 158,484,999 (+)NCBI
Rnor_6.05164,844,642 - 164,864,360 (+)NCBI
Rnor_5.05168,502,556 - 168,522,350 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006239417   ⟹   XP_006239479
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85163,748,531 - 163,768,141 (+)NCBI
mRatBN7.25158,465,392 - 158,484,999 (+)NCBI
Rnor_6.05164,844,754 - 164,864,360 (+)NCBI
Rnor_5.05168,502,556 - 168,522,350 (+)NCBI
Sequence:
RefSeq Acc Id: XM_342975   ⟹   XP_342976
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr85163,748,931 - 163,768,141 (+)NCBI
mRatBN7.25158,465,777 - 158,484,999 (+)NCBI
Rnor_6.05164,845,192 - 164,864,360 (+)NCBI
Rnor_5.05168,502,556 - 168,522,350 (+)NCBI
RGSC_v3.45165,112,850 - 165,126,885 (+)RGD
Sequence:
RefSeq Acc Id: XP_342976   ⟸   XM_342975
- Peptide Label: isoform X1
- UniProtKB: A0A8I6A4C5 (UniProtKB/TrEMBL),   A6IU41 (UniProtKB/TrEMBL),   A6IU42 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006239476   ⟸   XM_006239414
- Peptide Label: isoform X3
- UniProtKB: D4A7E8 (UniProtKB/TrEMBL),   A6IU40 (UniProtKB/TrEMBL),   A6IU42 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006239479   ⟸   XM_006239417
- Peptide Label: isoform X4
- UniProtKB: A0A8I6A5Q6 (UniProtKB/TrEMBL),   A6IU43 (UniProtKB/TrEMBL),   A6IU42 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006239475   ⟸   XM_006239413
- Peptide Label: isoform X2
- UniProtKB: A6IU42 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000011384   ⟸   ENSRNOT00000011384
MTHFR SAM-binding regulatory

Name Modeler Protein Id AA Range Protein Structure
AF-D4A7E8-F1-model_v2 AlphaFold D4A7E8 1-695 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen



1 to 29 of 29 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-39199 BioCyc
Ensembl Genes ENSRNOG00000008553 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000011384 ENTREZGENE
  ENSRNOT00000011384.8 UniProtKB/TrEMBL
  ENSRNOT00000102508 ENTREZGENE
  ENSRNOT00000102508.1 UniProtKB/TrEMBL
  ENSRNOT00000118752 ENTREZGENE
  ENSRNOT00000118752.1 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.220 UniProtKB/TrEMBL
InterPro FAD-linked_oxidoreductase-like UniProtKB/TrEMBL
  Fadh2_euk UniProtKB/TrEMBL
  Mehydrof_redctse UniProtKB/TrEMBL
  MTHFR_C UniProtKB/TrEMBL
NCBI Gene 362657 ENTREZGENE
PANTHER METHYLENETETRAHYDROFOLATE REDUCTASE UniProtKB/TrEMBL
  METHYLENETETRAHYDROFOLATE REDUCTASE UniProtKB/TrEMBL
Pfam MTHFR UniProtKB/TrEMBL
  MTHFR_C UniProtKB/TrEMBL
PharmGKB MTHFR RGD
PhenoGen Mthfr PhenoGen
RatGTEx ENSRNOG00000008553 RatGTEx
Superfamily-SCOP SSF51730 UniProtKB/TrEMBL
UniProt A0A8I6A4C5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I6A5Q6 ENTREZGENE, UniProtKB/TrEMBL
  A6IU40 ENTREZGENE, UniProtKB/TrEMBL
  A6IU41 ENTREZGENE, UniProtKB/TrEMBL
  A6IU42 ENTREZGENE, UniProtKB/TrEMBL
  A6IU43 ENTREZGENE, UniProtKB/TrEMBL
  D4A7E8 ENTREZGENE, UniProtKB/TrEMBL
1 to 29 of 29 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2010-12-16 Mthfr  methylenetetrahydrofolate reductase (NAD(P)H)  Mthfr  5,10-methylenetetrahydrofolate reductase (NADPH)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-08-29 Mthfr  5,10-methylenetetrahydrofolate reductase (NADPH)  Mthfr  5,10-methylenetetrahydrofolate reductase  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-03-17 Mthfr  5,10-methylenetetrahydrofolate reductase  Mthfr_predicted  5,10-methylenetetrahydrofolate reductase (NADPH) (predicted)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-01-12 Mthfr_predicted  5,10-methylenetetrahydrofolate reductase (NADPH) (predicted)      Symbol and Name status set to approved 70820 APPROVED