AutismKB 2.0

Annotation Details for DHFR


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Basic Information Top
Gene Symbol:DHFR ( DHFRP1,DYR )
Gene Full Name: dihydrofolate reductase
Band: 5q14.1
Quick LinksEntrez ID:1719; OMIM: 126060; Uniprot ID:DYR_HUMAN; ENSEMBL ID: ENSG00000228716; HGNC ID: 2861
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005575ND-cellular_component-
GO:0005739IDA-mitochondrion-
GO:0005829TAS-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0000900IDA-translation repressor activity, nucleic acid binding8490020
GO:0003729IDA-mRNA binding21876184
GO:0004146IDA-dihydrofolate reductase activity2303423
GO:0004146ISS-dihydrofolate reductase activity-
GO:0004146NAS-dihydrofolate reductase activity6687716
GO:0005542IDA-folic acid binding2303423
GO:0008144IDA-drug binding12096917
GO:0033560TAS-folate reductase activity-
GO:0051870IDA-methotrexate binding2303423
GO:0070402IDA-NADPH binding2303423
GO:1990825IDA-sequence-specific mRNA binding8490020
GO ID Evidence Qualifier GO_term References
GO:0000083TAS-regulation of transcription involved in G1/S transition of mitotic cell cycle-
GO:0006545IEA-glycine biosynthetic process-
GO:0006729IMP-tetrahydrobiopterin biosynthetic process23707606
GO:0006729ISS-tetrahydrobiopterin biosynthetic process-
GO:0006730IEA-one-carbon metabolic process-
GO:0009165IEA-nucleotide biosynthetic process-
GO:0017148IDA-negative regulation of translation8490020
GO:0031103ISS-axon regeneration-
GO:0031427ISS-response to methotrexate-
GO:0046452IDA-dihydrofolate metabolic process2303423
GO:0046653IDA-tetrahydrofolate metabolic process12096917
GO:0046654IDA-tetrahydrofolate biosynthetic process2303423
GO:0046654IEA-tetrahydrofolate biosynthetic process-
GO:0046655ISS-folic acid metabolic process-
GO:0046655TAS-folic acid metabolic process-
GO:0051000ISS-positive regulation of nitric-oxide synthase activity-
GO:0055114IDA-oxidation-reduction process23707606
GO:2000121ISS-regulation of removal of superoxide radicals-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
HSPD1DHFR1080658559246 Co-purification; Reconstituted Complex
HSPD1DHFR1095618559246 Co-purification; Reconstituted Complex
THBS1DHFR10806510749676 Reconstituted Complex
THBS1DHFR11291510749676 Reconstituted Complex
FKBP1ADHFR10857012812497 Biochemical Activity
FKBP1ADHFR10806512812497 Biochemical Activity
MDM2DHFR10806518451149 Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid
MDM2DHFR11035818451149 Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid
TP53DHFR10806518451149 Reconstituted Complex
TP53DHFR11301018451149 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:94890
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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