• Gene id: 441024

Gene Summary

• Gene Symbol: MTHFD2L   Gene   UCSC   Ensembl
• Gene name: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like
• Alternate names: probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, MTHFD2-like, NADP-dependent methylenetetrahydrofolate dehydrogenase 2-like protein, tetrahydrofolate dehydrogenase/cyclohydrolase,
• Gene location: 4q13.3 (74123272: 74303098)     Exons: 26     NC_000004.12
• OMIM: 614047

Protein Summary

• Protein general information: Q9H903  
  • Name: Probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 (NADP dependent methylenetetrahydrofolate dehydrogenase 2 like protein) (MTHFD2 like) [Includes: NAD dependent methylenetetrahydrofolate dehydrogenase (EC 1.5.1.15); Methenylte
  • Length: 347  
  • Mass: 37315
  • Tissue specificity: Isoform 1, isoform 4 and isoform 5 are expressed in brain and placenta. {ECO
• Sequence:

  MTVPVRGFSLLRGRLGRAPALGRSTAPSVRAPGEPGSAFRGFRSSGVRHEAIIISGTEMAKHIQKEIQRGVESWV
  SLGNRRPHLSIILVGDNPASHTYVRNKIRAASAVGICSELILKPKDVSQEELLDVTDQLNMDPRVSGILVQLPLP
  DHVDERTICNGIAPEKDVDGFHIINIGRLCLDQHSLIPATASAVWEIIKRTGIQTFGKNVVVAGRSKNVGMPIAM
  LLHTDGEHERPGGDATVTIAHRYTPKEQLKIHTQLADIIIVAAGIPKLITSDMVKEGAAVIDVGINYVHDPVTGK
  TKLVGDVDFEAVKKKAGFITPVPGGVGPMTVAMLLKNTLLAAKKIIY

• Structural information:
  • Interpro: IPR036291  IPR000672  IPR020630  IPR020867  IPR020631  
  • Prosite: PS00767
  • CDD: cd01080
  • STRING: ENSP00000379108
• Other Databases: GeneCards:  MTHFD2L  Malacards:  MTHFD2L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004477	methenyltetrahydrofolate cyclohydrolase activity	IBA	molecular function
GO:0004487	methylenetetrahydrofolate dehydrogenase (NAD+) activity	IBA	molecular function
GO:0004488	methylenetetrahydrofolate dehydrogenase (NADP+) activity	IBA	molecular function
GO:0006730	one-carbon metabolic process	IBA	biological process
GO:0035999	tetrahydrofolate interconversion	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004488	methylenetetrahydrofolate dehydrogenase (NADP+) activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0008652	cellular amino acid biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0000105	histidine biosynthetic process	IEA	biological process
GO:0009086	methionine biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0004477	methenyltetrahydrofolate cyclohydrolase activity	IEA	molecular function
GO:0004487	methylenetetrahydrofolate dehydrogenase (NAD+) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0046655	folic acid metabolic process	TAS	biological process
GO:0035999	tetrahydrofolate interconversion	IEA	biological process
GO:0004488	methylenetetrahydrofolate dehydrogenase (NADP+) activity	IEA	molecular function
GO:0009256	10-formyltetrahydrofolate metabolic process	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0035999	tetrahydrofolate interconversion	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)