AutismKB 2.0

Annotation Details for MTHFR


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Basic Information Top
Gene Symbol:MTHFR ( - )
Gene Full Name: methylenetetrahydrofolate reductase (NAD(P)H)
Band: 1p36.22
Quick LinksEntrez ID:4524; OMIM: 607093; Uniprot ID:MTHR_HUMAN; ENSEMBL ID: ENSG00000177000; HGNC ID: 7436
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829IBA-cytosol-
GO:0005829TAS-cytosol-
GO:0045202IEA-synapse-
GO ID Evidence Qualifier GO_term References
GO:0004489IDA-methylenetetrahydrofolate reductase (NAD(P)H) activity12673793
GO:0004489IGI-methylenetetrahydrofolate reductase (NAD(P)H) activity10551815
GO:0004489IMP-methylenetetrahydrofolate reductase (NAD(P)H) activity12673793
GO:0004489TAS-methylenetetrahydrofolate reductase (NAD(P)H) activity-
GO:0032403IPI-protein complex binding24769206
GO:0050660IDA-flavin adenine dinucleotide binding12673793
GO:0050661IEA-NADP binding-
GO:0072341IDA-modified amino acid binding20031578
GO ID Evidence Qualifier GO_term References
GO:0001666IEA-response to hypoxia-
GO:0006520TAS-cellular amino acid metabolic process7647779
GO:0006555IGI-methionine metabolic process10551815
GO:0008015TAS-blood circulation7647779
GO:0031060IDA-regulation of histone methylation24769206
GO:0033274IEA-response to vitamin B2-
GO:0035999IDA-tetrahydrofolate interconversion12673793
GO:0035999IEA-tetrahydrofolate interconversion-
GO:0035999IGI-tetrahydrofolate interconversion10551815
GO:0035999IMP-tetrahydrofolate interconversion12673793
GO:0042493IEA-response to drug-
GO:0043200IEA-response to amino acid-
GO:0046500IEA-S-adenosylmethionine metabolic process-
GO:0046655TAS-folic acid metabolic process-
GO:0050667IDA-homocysteine metabolic process20031578
GO:0051593IEA-response to folic acid-
GO:0055114IEA-oxidation-reduction process-
GO:0070555IEA-response to interleukin-1-
GO:0070829IDA-heterochromatin maintenance24769206
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NAA38MTHFR11967915231747 Two-hybrid
NAA38MTHFR11062415231747 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
MTHFRA1793G, C393A, G713A, rs1801131, rs1801133 Gene overview in AlzGene
Gene Symbol Poly Names Gene overview in PDGene
MTHFRrs1801131, rs1801133, rs2274976 Gene overview in PDGene
Gene Symbol Poly Names Gene overview in SZGene
MTHFRrs1801131, rs1801133 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:106639
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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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