C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: methylenetetrahydrofolate reductase (NAD(P)H)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000177000 MTHFR 9606 - 1:11785723-11806920 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000376486 MTHFR-003 11803028-11806920 protein_coding
  ENST00000376583 MTHFR-201 11785730-11803514 protein_coding
  ENST00000376585 MTHFR-007 11788294-11805413 protein_coding
  ENST00000376590 MTHFR-002 11786603-11806058 protein_coding
  ENST00000376592 MTHFR-001 11785723-11803245 protein_coding
  ENST00000413656 MTHFR-008 11803028-11805294 protein_coding
  ENST00000418034 MTHFR-004 11801205-11805936 protein_coding
  ENST00000423400 MTHFR-005 11803028-11805413 protein_coding
  ENST00000431243 MTHFR-006 11803028-11805413 protein_coding

Homo sapiens EnsemblGRCh38

Genome
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Genes
Gene structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000376583ENST00000376585ENST00000376590ENST00000376592
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000376583 N/A 3.834±0.00 N/A N/A 2.411±0.00 2.314±0.00 0.682±0.00 3.316±2.17 2.849±0.00 3.252±2.58 0.966±0.00 5.388±1.81 1.235±0.32 4.396±0.00
ENST00000376585 N/A N/A N/A N/A N/A 0.733±0.00 N/A 0.508±0.00 0.731±0.00 1.630±0.00 N/A 1.660±0.00 N/A N/A
ENST00000376590 N/A N/A 1.662±0.00 N/A N/A N/A 0.724±0.00 N/A 0.556±0.00 N/A 1.588±0.00 6.851±0.00 0.898±0.00 4.127±0.00
ENST00000376592 2.489±0.00 3.790±0.00 N/A 3.020±0.00 N/A N/A N/A N/A N/A N/A N/A 5.082±0.84 0.712±0.28 3.492±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00087H CIL_00087H_0001 VISTA 1:11580820-12184055

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001666 IEA response to hypoxia
GO:0004489 IEA:TAS methylenetetrahydrofolate reductase (NAD(P)H) activity
GO:0005829 TAS cytosol
GO:0006520 TAS cellular amino acid metabolic process
GO:0006555 IEA methionine metabolic process
GO:0006766 TAS vitamin metabolic process
GO:0006767 TAS water-soluble vitamin metabolic process
GO:0008015 TAS blood circulation
GO:0009086 IEA methionine biosynthetic process
GO:0033274 IEA response to vitamin B2
GO:0035999 IEA tetrahydrofolate interconversion
GO:0042493 IEA response to drug
GO:0043005 IEA neuron projection
GO:0043200 IEA response to amino acid
GO:0044281 TAS small molecule metabolic process
GO:0046500 IEA S-adenosylmethionine metabolic process
GO:0046653 IEA tetrahydrofolate metabolic process
GO:0046655 TAS folic acid metabolic process
GO:0050660 IEA flavin adenine dinucleotide binding
GO:0050661 IEA NADP binding
GO:0050667 IDA homocysteine metabolic process
GO:0051593 IEA response to folic acid
GO:0055114 IEA oxidation-reduction process
GO:0070555 IEA response to interleukin-1
GO:0072341 IDA modified amino acid binding

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000053087 mthfr methylenetetrahydrofolate reductase (NAD(P)H) protein_coding Danio_rerio
ENSMUSG00000029009 Mthfr 5,10-methylenetetrahydrofolate reductase protein_coding Mus_musculus

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