2. Gene
  3. MTHFD2 - methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase Gene

MTHFD2 - methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as NMDMC

Gene ID: 10797 | Gene type: protein coding

About MTHFD2

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:74,198,615-74,217,565 (from NCBI)

This gene has 21 transcripts (splice variants), 150 orthologues and 3 paralogues. Ubiquitous expression in appendix (RPKM 27.6), lymph node (RPKM 27.0) and 25 other tissues.

Summary

This gene encodes a nuclear-encoded mitochondrial bifunctional Enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The Enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009]

MTHFD2 Products(2)

mRNA Protein Name
NM_001410192.1 NP_001397121.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial isoform B
NM_006636.4 NP_006627.2 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial isoform A precursor

MTHFD2 Protein Structure

THF_DHG_CYH

THF_DHG_CYH: Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (39 - 155)

THF_DHG_CYH_C

THF_DHG_CYH_C: Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (158 - 330)

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  • 350 a.a.
Protein Preferred Names Protein Names

bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial

NAD-dependent methylene tetrahydrofolate dehydrogenase cyclohydrolase

Related Diseases

Diseases Alias
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (11)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-130251 DS18561882 99.62% Unkown
HY-101943 LY 345899 ≥98.0% Unkown
HY-131943 DS44960156 99.36% Unkown
HY-155950 TH9619 / Unkown
HY-149825 MTHFD2-IN-1 Inhibitor / Unkown
HY-149826 MTHFD2-IN-2 Inhibitor / Unkown
HY-149827 MTHFD2-IN-3 Inhibitor / Unkown
HY-149828 MTHFD2-IN-4 Inhibitor / Unkown
HY-149828A MTHFD2-IN-4 sodium Inhibitor / Unkown
HY-RS08776 MTHFD2 Human Pre-designed siRNA Set A / Unkown
HY-RS08777 MTHFD2L Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MTHFD2 RGD RGD:1311313
Mus musculus MTHFD2 MGD MGI:1338850
Macaca mulatta MTHFD2 VGNC VGNC:106186
Bos taurus MTHFD2 VGNC VGNC:102828
Felis catus MTHFD2 VGNC VGNC:81125