Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1719
Gene name Gene Name - the full gene name approved by the HGNC.
Dihydrofolate reductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DHFR
Synonyms (NCBI Gene) Gene synonyms aliases
DHFR1, DHFRP1, DYR
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q14.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT002018 hsa-miR-24-3p real time qRT-PCR, Western blot 17686970
MIRT002018 hsa-miR-24-3p real time qRT-PCR, Western 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 factor Regulation Reference
E2F1 Activation 14618416
RB1 Repression 9671466
TFDP1 Activation 14618416
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
126060 2861 ENSG00000228716
Protein
UniProt ID 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
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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
Constitutional Megaloblastic Anemia With Severe Neurologic Disease constitutional megaloblastic anemia with severe neurologic disease rs121913223, rs387906619 N/A
Associations from Text Mining Disease 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