| 1308582 | Shmt2 | serine hydroxymethyltransferase 2 | ENCODES a protein that exhibits amino acid binding; glycine hydroxymethyltransferase activity; identical protein binding; INVOLVED IN glycine biosynthetic process; glycine biosynthetic process from L-serine; glycine metabolic process; PARTICIPATES IN folate mediated one-carbon metabolic pathway; gly cine metabolic pathway; glycine, serine and threonine metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); lung non-small cell carcinoma (ortholog); neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (ortholog); FOUND IN mitochondrial inner membrane; mitochondrial matrix; BRISC complex (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,4,6-trinitrotoluene | 7 | 65244247 | 65249580 | Rat | 279 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1318437 | SHMT2 | serine hydroxymethyltransferase 2 | 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 pro tein 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] | 12 | 57229711 | 57234935 | Human | 321 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1318438 | Shmt2 | serine hydroxymethyltransferase 2 (mitochondrial) | Enables glycine hydroxymethyltransferase activity. Involved in several processes, including formate biosynthetic process; regulation of oxidative phosphorylation; and tetrahydrofolate interconversion. Acts upstream of or within dTMP biosynthetic process. Located in mitochondrial inner membrane. Is a ctive in mitochondrial matrix and nucleus. Is expressed in several structures, including future brain; hepatic primordium; placenta; skeleton; and submandibular gland primordium. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities. Orthologous to human SHMT2 (serine hydroxymethyltransferase 2). [provided by Alliance of Genome Resources, Jul 2025] | 10 | 127352992 | 127358313 | Mouse | 313 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8997578 | Shmt2 | serine hydroxymethyltransferase 2 | ENCODES a protein that exhibits amino acid binding (ortholog); chromatin binding (ortholog); glycine hydroxymethyltransferase activity (ortholog); INVOLVED IN formate biosynthetic process (ortholog); glycine biosynthetic process (ortholog); glycine biosynthetic process from L-serine (ortholog); PART ICIPATES IN dihydropyrimidine dehydrogenase deficiency pathway; dimethylglycine dehydrogenase deficiency pathway; folate cycle metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); lung non-small cell carcinoma (ortholog); neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (ortholog); FOUND IN BRISC complex (ortholog); cytoplasm (ortholog); mitochondrial inner membrane (ortholog) | NW_004955458 | 4957614 | 4962691 | Chinchilla | 78 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11824480 | SHMT2 | serine hydroxymethyltransferase 2 | ENCODES a protein that exhibits amino acid binding (ortholog); glycine hydroxymethyltransferase activity (ortholog); identical protein binding (ortholog); INVOLVED IN glycine biosynthetic process (ortholog); glycine biosynthetic process from L-serine (ortholog); glycine metabolic process (ortholog); PARTICIPATES IN dihydropyrimidine dehydrogenase deficiency pathway; dimethylglycine dehydrogenase deficiency pathway; folate cycle metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); lung non-small cell carcinoma (ortholog); neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial matrix (ortholog) | 12 | 31692451 | 31697727 | Bonobo | 90 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12413364 | SHMT2 | serine hydroxymethyltransferase 2 | ENCODES a protein that exhibits amino acid binding (ortholog); glycine hydroxymethyltransferase activity (ortholog); identical protein binding (ortholog); INVOLVED IN glycine biosynthetic process (ortholog); glycine biosynthetic process from L-serine (ortholog); glycine metabolic process (ortholog); PARTICIPATES IN dihydropyrimidine dehydrogenase deficiency pathway; dimethylglycine dehydrogenase deficiency pathway; folate cycle metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); lung non-small cell carcinoma (ortholog); neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial matrix (ortholog) | 10 | 1357347 | 1362511 | Dog | 88 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12466279 | Shmt2 | serine hydroxymethyltransferase 2 | ENCODES a protein that exhibits amino acid binding (ortholog); glycine hydroxymethyltransferase activity (ortholog); identical protein binding (ortholog); INVOLVED IN glycine biosynthetic process (ortholog); glycine biosynthetic process from L-serine (ortholog); glycine metabolic process (ortholog); PARTICIPATES IN dihydropyrimidine dehydrogenase deficiency pathway; dimethylglycine dehydrogenase deficiency pathway; folate cycle metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); lung non-small cell carcinoma (ortholog); neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial matrix (ortholog) | NW_004936646 | 1422844 | 1427929 | Squirrel | 90 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18375947 | SHMT2 | serine hydroxymethyltransferase 2 | ENCODES a protein that exhibits amino acid binding (ortholog); glycine hydroxymethyltransferase activity (ortholog); identical protein binding (ortholog); INVOLVED IN glycine biosynthetic process (ortholog); glycine biosynthetic process from L-serine (ortholog); glycine metabolic process (ortholog); PARTICIPATES IN dihydropyrimidine dehydrogenase deficiency pathway; dimethylglycine dehydrogenase deficiency pathway; folate cycle metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); lung non-small cell carcinoma (ortholog); neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial matrix (ortholog) | | | | Green Monkey | 90 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155230978 | shmt2 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 626124290 | Shmt2 | serine hydroxymethyltransferase 2 | ENCODES a protein that exhibits amino acid binding (ortholog); chromatin binding (ortholog); glycine hydroxymethyltransferase activity (ortholog); INVOLVED IN formate biosynthetic process (ortholog); glycine biosynthetic process (ortholog); glycine biosynthetic process from L-serine (ortholog); PART ICIPATES IN dihydropyrimidine dehydrogenase deficiency pathway; dimethylglycine dehydrogenase deficiency pathway; folate cycle metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); lung non-small cell carcinoma (ortholog); neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (ortholog); FOUND IN BRISC complex (ortholog); cytoplasm (ortholog); mitochondrial inner membrane (ortholog) | | | | Black Rat | 78 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14224315 | SHMT2 | serine hydroxymethyltransferase 2 | ENCODES a protein that exhibits amino acid binding (ortholog); glycine hydroxymethyltransferase activity (ortholog); identical protein binding (ortholog); INVOLVED IN glycine biosynthetic process (ortholog); glycine biosynthetic process from L-serine (ortholog); glycine metabolic process (ortholog); PARTICIPATES IN dihydropyrimidine dehydrogenase deficiency pathway; dimethylglycine dehydrogenase deficiency pathway; folate cycle metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); lung non-small cell carcinoma (ortholog); neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial matrix (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 91 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18902411 | Shmt2 | serine hydroxymethyltransferase 2 | ENCODES a protein that exhibits amino acid binding (ortholog); chromatin binding (ortholog); glycine hydroxymethyltransferase activity (ortholog); INVOLVED IN formate biosynthetic process (ortholog); glycine biosynthetic process (ortholog); glycine biosynthetic process from L-serine (ortholog); PART ICIPATES IN dihydropyrimidine dehydrogenase deficiency pathway; dimethylglycine dehydrogenase deficiency pathway; folate cycle metabolic pathway; ASSOCIATED WITH genetic disease (ortholog); lung non-small cell carcinoma (ortholog); neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (ortholog); FOUND IN BRISC complex (ortholog); mitochondrial inner membrane (ortholog); mitochondrial matrix (ortholog) | | | | Naked Mole-Rat | 81 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155247492 | shmt2.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155230977 | shmt2.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 1598349 | Shmt2-ps1 | serine hydroxymethyltransferase 2, pseudogene 1 | | 2 | 181193255 | 181194596 | Rat | | symbol , PhenoGen | gene, pseudo, MODEL [RefSeq] |
| 16567978 | AC137834.2 | novel transcript, antisense to SHMT2 | | | | | Human | | name | gene, lncrna |