======= MTHFR =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MTHFR
  * **<color #00a2e8>Official Name</color>**: methylenetetrahydrofolate reductase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4524|4524]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P42898|P42898]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MTHFR&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MTHFR|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607093|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Catalyzes the conversion of 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co- substrate for homocysteine remethylation to methionine. {ECO:0000269|PubMed:25736335}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|MTHFR|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|response to vitamin B2|
|methylenetetrahydrofolate reductase (NAD(P)H) activity|
|heterochromatin maintenance|
|chromatin maintenance|
|modified amino acid binding|
|response to folic acid|
|tetrahydrofolate interconversion|
|homocysteine metabolic process|
|methionine biosynthetic process|
|heterochromatin organization|
|methionine metabolic process|
|sulfur amino acid biosynthetic process|
|S-adenosylmethionine metabolic process|
|tetrahydrofolate metabolic process|
|folic acid metabolic process|
|aspartate family amino acid biosynthetic process|
|one-carbon metabolic process|
|folic acid-containing compound metabolic process|
|FAD binding|
|pteridine-containing compound metabolic process|
|NADP binding|
|sulfur amino acid metabolic process|
|cellular component maintenance|
|aspartate family amino acid metabolic process|
|flavin adenine dinucleotide binding|
|regulation of histone methylation|
|alpha-amino acid biosynthetic process|
|cellular amino acid biosynthetic process|
|response to vitamin|
|water-soluble vitamin metabolic process|
|neural tube closure|
|tube closure|
|dicarboxylic acid metabolic process|
|primary neural tube formation|
|neural tube formation|
|response to amino acid|
|embryonic epithelial tube formation|
|vitamin metabolic process|
|epithelial tube formation|
|morphogenesis of embryonic epithelium|
|regulation of histone modification|
|tube formation|
|neural tube development|
|sulfur compound biosynthetic process|
|regulation of chromatin organization|
|cellular modified amino acid metabolic process|
|response to interleukin-1|
|alpha-amino acid metabolic process|
|response to nutrient|
|coenzyme metabolic process|
|protein-containing complex binding|
|synapse|
|carboxylic acid biosynthetic process|
|organic acid biosynthetic process|
|epithelial tube morphogenesis|
|cellular amino acid metabolic process|
|response to hypoxia|
|response to acid chemical|
|regulation of chromosome organization|
|response to decreased oxygen levels|
|sulfur compound metabolic process|
|response to oxygen levels|
|blood circulation|
|circulatory system process|
|morphogenesis of an epithelium|
|cofactor metabolic process|
|response to nutrient levels|
|drug metabolic process|
|response to extracellular stimulus|
|tissue morphogenesis|
|embryonic morphogenesis|
|small molecule biosynthetic process|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|chromatin organization|
|cellular amide metabolic process|
|tube development|
|anatomical structure formation involved in morphogenesis|
|carboxylic acid metabolic process|
|response to organic cyclic compound|
|oxidation-reduction process|
|embryo development|
|response to organonitrogen compound|
|oxoacid metabolic process|
|response to drug|
|organic acid metabolic process|
|chromosome organization|
|response to nitrogen compound|
|response to cytokine|
|epithelium development|
|response to abiotic stimulus|
|regulation of organelle organization|
|organonitrogen compound biosynthetic process|
|response to oxygen-containing compound|
|small molecule metabolic process|
|tissue development|
|regulation of protein modification process|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 6471
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.67 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MTHFR Expression in NALM6 Cells: 5.67'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>