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

Also Known as NMDMC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10797

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables magnesium ion binding	IDA IDA: Inferred from direct assay	8218174	GOA
enables magnesium ion binding	IMP IMP: Inferred from mutant phenotype	16100107	GOA
enables methenyltetrahydrofolate cyclohydrolase activity	IDA IDA: Inferred from direct assay	16100107	GOA
enables methylenetetrahydrofolate dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	8218174	GOA
enables methylenetetrahydrofolate dehydrogenase (NAD+) activity	IMP IMP: Inferred from mutant phenotype	16100107	GOA
enables methylenetetrahydrofolate dehydrogenase (NADP+) activity	IDA IDA: Inferred from direct assay	8218174	GOA
enables methylenetetrahydrofolate dehydrogenase (NADP+) activity	IMP IMP: Inferred from mutant phenotype	16100107	GOA
enables phosphate ion binding	IDA IDA: Inferred from direct assay	8218174	GOA
enables phosphate ion binding	IMP IMP: Inferred from mutant phenotype	16100107	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in tetrahydrofolate metabolic process	IDA IDA: Inferred from direct assay	8218174	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTHFD2 Protein Structure

THF_DHG_CYH

THF_DHG_CYH_C

0
100
200
300
350 a.a.

Protein Preferred Names	Protein Names
bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial	NAD-dependent methylene tetrahydrofolate dehydrogenase cyclohydrolase

MTHFD2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MTHFD2	P13995	NAGK	Homo sapiens	Q9UJ70-2	Validated Y2H	32296183
Intra	MTHFD2	P13995	NAGK	Homo sapiens	Q9UJ70-2	Y2H Prey Pooling	32296183
Intra	MTHFD2	P13995	NAGK	Homo sapiens	Q9UJ70-2	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

MTHFD2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811258	MTHFD2 Antibody	WB, IHC-P, ICC/IF	Human, Mouse

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-155950	TH9619		99.33%	Phase 2

Pre-clinical Phase

Bioactive Molecules (20)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-130251	DS18561882		99.95%	Unkown
HY-101943	LY 345899		98.0%	Unkown
HY-131943	DS44960156	Inhibitor	≥99.0%	Unkown
HY-155219	TH9028		/	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-170361	MTHFD2-IN-5	Inhibitor	/	Unkown
HY-172910	MTHFD2-IN-6		/	Unkown
HY-182284	Anticancer agent 310		/	Unkown
HY-182355	MTHFD2-IN-7	Inhibitor	/	Unkown
HY-182356	MTHFD1/2-IN-1	Inhibitor	/	Unkown
HY-183364	MTHFD2-IN-8		/	Unkown
HY-RS08776	MTHFD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08777	MTHFD2L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-148014	TH7299		/	Unkown
HY-RS16648	Mthfd2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23082	Mthfd2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MTHFD2	NCBI