Serine hydroxymethyltransferase 2

SHMT2
Identifiers
Aliases	SHMT2, GLYA, HEL-S-51e, SHMT, serine hydroxymethyltransferase 2, NEDCASB
External IDs	OMIM: 138450; MGI: 1277989; GeneCards: SHMT2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3OU5, 4PVF
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 2.1.2.1 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 12 (human) Band 12q13.3 Start 57,229,573 bp End 57,234,935 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10|10 D3 Start 127,352,992 bp End 127,358,313 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii cartilage tissue right lobe of liver oocyte stromal cell of endometrium secondary oocyte embryo body of pancreas tibia ganglionic eminence Top expressed in left lobe of liver right kidney condyle human kidney yolk sac tail of embryo proximal tubule internal carotid artery somite calvaria More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity amino acid binding chromatin binding L-allo-threonine aldolase activity protein binding catalytic activity identical protein binding glycine hydroxymethyltransferase activity pyridoxal phosphate binding zinc ion binding cobalt ion binding serine binding Cellular component membrane BRISC complex microtubule cytoskeleton mitochondrial intermembrane space extracellular exosome mitochondrial inner membrane cytoplasm mitochondrion mitochondrial matrix mitochondrial nucleoid nucleus Biological process L-serine biosynthetic process tetrahydrofolate interconversion protein tetramerization tetrahydrofolate metabolic process protein K63-linked deubiquitination folic acid metabolic process glycine biosynthetic process from serine response to type I interferon positive regulation of cell population proliferation glycine biosynthetic process protein homotetramerization one-carbon metabolic process glycine metabolic process L-serine metabolic process regulation of oxidative phosphorylation L-serine catabolic process regulation of mitochondrial translation regulation of aerobic respiration cellular response to tetrahydrofolate Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 6472 108037 Ensembl ENSG00000182199 ENSMUSG00000025403 UniProt P34897 Q9CZN7 RefSeq (mRNA) NM_001166356 NM_001166357 NM_001166358 NM_001166359 NM_005412 NM_001252316 NM_028230 RefSeq (protein) NP_001159828 NP_001159829 NP_001159830 NP_001159831 NP_005403 NP_001239245 NP_082506 Location (UCSC) Chr 12: 57.23 – 57.23 Mb Chr 10: 127.35 – 127.36 Mb PubMed search
Wikidata
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Serine hydroxymethyltransferase 2, also called mitochondrial serine hydroxymethyltransferase, is an enzyme that in humans is encoded by the gene SHMT2. Acting as a serine hydroxymethyltransferase, this enzyme produces 5,10-methylenetetrahydrofolate which is required for mitochondrial translation.

Medical significance

Pathogenic mutations in SHMT2 are associated with neurological and cardiovascular dysfunction, called neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB).

References

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