Aliases for SHMT2 Gene
External Ids for SHMT2 Gene
Previous HGNC Symbols for SHMT2 Gene
Previous GeneCards Identifiers for SHMT2 Gene
This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
GeneCards Summary for SHMT2 Gene
SHMT2 (Serine Hydroxymethyltransferase 2) is a Protein Coding gene. Diseases associated with SHMT2 include Pyridoxine Deficiency and Neural Tube Defects. Among its related pathways are Glucose / Energy Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include identical protein binding and pyridoxal phosphate binding. An important paralog of this gene is SHMT1.
UniProtKB/Swiss-Prot for SHMT2 Gene
Contributes to the de novo mitochondrial thymidylate biosynthesis pathway via its role in glycine and tetrahydrofolate metabolism. Thymidylate biosynthesis is required to prevent uracil accumulation in mtDNA (PubMed:21876188). Interconversion of serine and glycine (PubMed:25619277). Associates with mitochondrial DNA (PubMed:18063578). Plays a role in the deubiquitination of target proteins as component of the BRISC complex (PubMed:24075985). Required for IFNAR1 deubiquitination by the BRISC complex (PubMed:24075985).