External Ids for SGMS2 Gene
Previous GeneCards Identifiers for SGMS2 Gene
Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008]
GeneCards Summary for SGMS2 Gene
SGMS2 (Sphingomyelin Synthase 2) is a Protein Coding gene. Diseases associated with SGMS2 include Fetal Alcohol Spectrum Disorder. Among its related pathways are sphingomyelin metabolism/ceramide salvage and Sphingolipid signaling pathway. GO annotations related to this gene include kinase activity and ceramide cholinephosphotransferase activity. An important paralog of this gene is SAMD8.
UniProtKB/Swiss-Prot for SGMS2 Gene
Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine (PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types. Regulator of cell surface levels of ceramide, an important mediator of signal transduction and apoptosis. Regulation of sphingomyelin (SM) levels at the cell surface affects insulin sensitivity.