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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 441024

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 References 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: Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (53 - 169)

THF_DHG_CYH_C

THF_DHG_CYH_C: Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (172 - 344)

  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-155219 TH9028 / Unkown
HY-RS08777 MTHFD2L Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-148014 TH7299 / 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
Others MTHFD2L NCBI