Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4524
Gene name Gene Name - the full gene name approved by the HGNC.
Methylenetetrahydrofolate reductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MTHFR
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vas
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1801131 T>G Benign, benign-likely-benign, other, risk-factor, uncertain-significance Non coding transcript variant, coding sequence variant, missense variant
rs1801133 G>A,C Likely-benign, not-provided, conflicting-interpretations-of-pathogenicity, drug-response, other, uncertain-significance Non coding transcript variant, coding sequence variant, missense variant
rs2066464 T>C Conflicting-interpretations-of-pathogenicity Intron variant, non coding transcript variant
rs34279942 G>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs45449298 C>A,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027114 hsa-miR-103a-3p Sequencing 20371350
MIRT031648 hsa-miR-16-5p Sequencing 20371350
MIRT042604 hsa-miR-423-3p CLASH 23622248
MIRT618790 hsa-miR-1972 HITS-CLIP 23824327
MIRT618789 hsa-miR-4480 HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
NFE2L2 Activation 16551619
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0001843 Process Neural tube closure IMP 25855017, 29222906
GO:0001843 Process Neural tube closure NAS 9349452
GO:0003824 Function Catalytic activity IEA
GO:0004489 Function Methylenetetrahydrofolate reductase [NAD(P)H] activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607093 7436 ENSG00000177000
Protein
UniProt ID P42898
Protein name Methylenetetrahydrofolate reductase (NADPH) (EC 1.5.1.53)
Protein function Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine (PubMed:29891918). Represents a key regulatory connection between the folate and methionine cycles
PDB 6FCX , 8QA4 , 8QA5 , 8QA6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02219 MTHFR 48 337 Methylenetetrahydrofolate reductase Domain
Sequence
MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWF
SLEFFPPRTAEGAVNLISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYC
GLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDPIGDQWEEEEGGFNYAVDLVK
HIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFV
KACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIE
LAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLG
MWTEDPRRPLPWALSAHPKRREE
DVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKM
WGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGIL
TINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHL
VNVKGENITNAPELQPNAVTWGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYE
EESPSRTIIQYIHDNYFLVNLVDNDFPLDNCLWQVVEDTLELLNRPTQNARETEAP
Sequence length 656
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  One carbon pool by folate
Metabolic pathways
Antifolate resistance
Folate transport and metabolism
  Metabolism of folate and pterines
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Homocystinuria homocystinuria due to methylene tetrahydrofolate reductase deficiency rs1380686004, rs786204035, rs377443637, rs121434294, rs1644227125, rs786204007, rs777661576, rs780014899, rs121434295, rs139645527, rs1644375837, rs776483190, rs776734688, rs786204013, rs267606887
View all (43 more)
N/A
Neural Tube Defect Neural tube defects, folate-sensitive rs763539350, rs200137991, rs574132670, rs140277700, rs377443637, rs777661576, rs780014899, rs139645527, rs776483190, rs786204013, rs747846362, rs750323424, rs986604359, rs121434297, rs147257424
View all (4 more)
N/A
Thrombophilia Thrombophilia due to thrombin defect rs574132670 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Gastrointestinal stromal tumor gastrointestinal stromal tumor N/A N/A ClinVar
Hypertension High blood pressure / hypertension, Gestational hypertension, Hypertension N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormal Karyotype Associate 31737664
Abnormalities Drug Induced Associate 36619555
Abortion Habitual Associate 12738509, 15821810, 24235948, 24484533, 26060483, 27525841, 28703660, 28819944, 29785531, 30680517
Abortion Spontaneous Associate 11821094, 12623486, 23288205, 25153695, 27068821, 28488549, 28580572, 28703660, 29564022, 32021228, 33914208, 35232413, 36008980, 38057822
Activated Protein C Resistance Associate 16015408
Acute Coronary Syndrome Associate 27051002, 29245302, 32160861, 35721657
Acute Disease Associate 15886665
Acute Febrile Encephalopathy Associate 16906320
Acute Kidney Injury Associate 22129510
Adenocarcinoma Associate 12115343, 24490800