MTHFD2L - methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like Gene

Homo sapiens

Gene ID: 441024 | Gene type: protein coding

About MTHFD2L

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:74,114,560-74,303,099 (from NCBI)

This gene has 15 transcripts (splice variants), 197 orthologues and 3 paralogues. Low expression observed in reference dataset.

Summary

Predicted to enable methenyltetrahydrofolate cyclohydrolase activity; methylenetetrahydrofolate dehydrogenase (NAD+) activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in tetrahydrofolate interconversion. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

MTHFD2L Products(7)

mRNA	Protein	Name
NM_001004346.4	NP_001004346.2	bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 1
NM_001144978.3	NP_001138450.1	bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 2
NM_001351310.2	NP_001338239.1	bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 3
NM_001351311.2	NP_001338240.1	bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 3
NM_001351314.2	NP_001338243.1	bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 4
NM_001351329.2	NP_001338258.1	bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 5
NM_001351331.2	NP_001338260.1	bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 6

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	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

MTHFD2L Protein Structure

THF_DHG_CYH

THF_DHG_CYH_C

0
100
200
300
347 a.a.

Protein Preferred Names

Protein Names

bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial

MTHFD2-like

Related Diseases

Diseases

Alias

Cutis Laxa, Autosomal Dominant 3

ADCL3	Autosomal Dominant Cutis Laxa 3
Cutis Laxa, Autosomal Dominant, 3

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant	Autosomal Dominant Cutis Laxa
ADCL1	Adcl
Autosomal Dominant Cutis Laxa 1	Cutis Laxa, Autosomal Dominant, 1
Cutis Laxa, Autosomal Dominant, Type 1

Cutis Laxa, Autosomal Dominant 2

ADCL2	Autosomal Dominant Cutis Laxa 2
Cutis Laxa, Autosomal Dominant, 2	Cutis Laxa, Autosomal Dominant, Type 2

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-155219	TH9028	Inhibitor	/	Unkown
HY-RS08777	MTHFD2L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MTHFD2L	MGD	MGI:1915871
Macaca mulatta	MTHFD2L	VGNC	VGNC:100249
Rattus norvegicus	MTHFD2L	RGD	RGD:1310879
Canis familiaris	MTHFD2L	VGNC	VGNC:51777
Felis catus	MTHFD2L	VGNC	VGNC:107350

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