Gene Gene information from NCBI Gene database.
Entrez ID 1719
Gene name Dihydrofolate reductase
Gene symbol DHFR
Synonyms (NCBI Gene)
DHFR1DHFRP1DYR
Chromosome 5
Chromosome location 5q14.1
Summary Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chro
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121913223 T>A Pathogenic Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs387906619 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
438
miRTarBase ID miRNA Experiments Reference
MIRT002018 hsa-miR-24-3p real time qRT-PCRWestern blot 17686970
MIRT002018 hsa-miR-24-3p real time qRT-PCRWestern blot 17686970
MIRT002018 hsa-miR-24-3p Western blot 17686970
MIRT002018 hsa-miR-24-3p Luciferase reporter assay 17686970
MIRT002018 hsa-miR-24-3p Microarray 19748357
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
E2F1 Activation 14618416
RB1 Repression 9671466
TFDP1 Activation 14618416
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000900 Function MRNA regulatory element binding translation repressor activity IDA 8490020
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IDA 21876184
GO:0004146 Function Dihydrofolate reductase activity IBA
GO:0004146 Function Dihydrofolate reductase activity IDA 2303423, 12096917, 21876184, 23707606
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
126060 2861 ENSG00000228716
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00374
Protein name Dihydrofolate reductase (EC 1.5.1.3)
Protein function Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of
PDB 1BOZ , 1DHF , 1DLR , 1DLS , 1DRF , 1HFP , 1HFQ , 1HFR , 1KMS , 1KMV , 1MVS , 1MVT , 1OHJ , 1OHK , 1PD8 , 1PD9 , 1PDB , 1S3U , 1S3V , 1S3W , 1U71 , 1U72 , 1YHO , 2C2S , 2C2T , 2DHF , 2W3A , 2W3B , 2W3M , 3EIG , 3F8Y , 3F8Z , 3F91 , 3FS6 , 3GHC , 3GHV , 3GHW , 3GI2 , 3GYF , 3L3R , 3N0H , 3NTZ , 3NU0 , 3NXO , 3NXR , 3NXT , 3NXV , 3NXX , 3NXY , 3NZD , 3OAF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00186 DHFR_1 4 185 Dihydrofolate reductase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain. {ECO:0000269|PubMed:21310276}.
Sequence
Sequence length 187
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  One carbon pool by folate
Folate biosynthesis
Metabolic pathways
Biosynthesis of cofactors
Antifolate resistance
Folate transport and metabolism
  Metabolism of folate and pterines
G1/S-Specific Transcription
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Constitutional megaloblastic anemia with severe neurologic disease Pathogenic rs387906619, rs121913223 RCV000022524
RCV000022525
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs773136060 RCV005924010
DHFR-related disorder Benign; Likely benign rs530740538, rs141831067 RCV003958584
RCV003958122
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 31284044
Adenocarcinoma of Lung Associate 36769342
Adenomatous Polyps Associate 26875486
Adrenoleukodystrophy Associate 19353223
Alzheimer Disease Associate 21310276, 37519165
Anemia Associate 21310276
Anemia Megaloblastic Associate 21310276, 21310277
Aortic Aneurysm Abdominal Associate 34176283
Arthritis Rheumatoid Associate 22450926, 23897011, 30758239
Autoimmune Diseases Associate 23197646