SGMS2 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0030148Biological processsphingolipid biosynthetic process
GO_0030500Biological processregulation of bone mineralization
GO_0006686Biological processsphingomyelin biosynthetic process
GO_1905373Biological processceramide phosphoethanolamine biosynthetic process
GO_0046513Biological processceramide biosynthetic process
GO_0000139Cellular componentGolgi membrane
GO_0005654Cellular componentnucleoplasm
GO_0005794Cellular componentGolgi apparatus
GO_0005886Cellular componentplasma membrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0047493Molecular functionceramide cholinephosphotransferase activity
GO_0002950Molecular functionceramide phosphoethanolamine synthase activity
GO_0033188Molecular functionsphingomyelin synthase activity
GO_0005515Molecular functionprotein binding
GO_0016301Molecular functionkinase activity

IV. Literature review

[source]
Gene nameSGMS2
Protein namePhosphatidylcholine:ceramide cholinephosphotransferase 2 (EC 2.7.8.27) (Sphingomyelin synthase 2)
Sphingomyelin synthase 2
SynonymsSMS2
DescriptionFUNCTION: Sphingomyelin synthase that primarily contributes to sphingomyelin synthesis and homeostasis at the plasma membrane. Catalyzes the reversible transfer of phosphocholine moiety in sphingomyelin biosynthesis: in the forward reaction transfers phosphocholine head group of phosphatidylcholine (PC) on to ceramide (CER) to form ceramide phosphocholine (sphingomyelin, SM) and diacylglycerol (DAG) as by-product, and in the reverse reaction transfers phosphocholine from SM to DAG to form PC and CER. The direction of the reaction appears to depend on the levels of CER and DAG in the plasma membrane . Does not use free phosphorylcholine or CDP-choline as donors . Can also transfer phosphoethanolamine head group of phosphatidylethanolamine (PE) on to ceramide (CER) to form ceramide phosphoethanolamine (CPE) . Regulates receptor-mediated signal transduction via mitogenic DAG and proapoptotic CER, as well as via SM, a structural component of membrane rafts that serve as platforms for signal transduction and protein sorting . To a lesser extent, plays a role in secretory transport via regulation of DAG pool at the Golgi apparatus and its downstream effects on PRKD1 . Required for normal bone matrix mineralization . .

AccessionsENST00000394686.3
ENST00000359079.8
E5RJ63
ENST00000503862.5
Q8NHU3
ENST00000690982.1
ENST00000506993.1
E5RGG5
ENST00000503385.1
E5RJU3
ENST00000394684.8