| Gene Symbol | SGMS2 |
|---|---|
| Entrez Gene | 166929 |
| Alt Symbol | SMS2 |
| Species | Human |
| Gene Type | protein-coding |
| Description | sphingomyelin synthase 2 |
| Other Description | SM synthase|phosphatidylcholine:ceramide cholinephosphotransferase 2 |
| Swissprots | B2RA61 A8K2S9 Q8NHU3 |
| Accessions | EAX06211 EAX06212 EAX06213 Q8NHU3 AF452717 AAP13352 AK290344 BAF83033 AK314049 BAG36758 AL833599 BC028705 AAH28705 BC041369 AAH41369 BX649142 DB048409 DC417367 XM_006714121 XP_006714184 XM_011531698 XP_011530000 XM_011531699 XP_011530001 XM_011531700 XP_011530002 XM_011531701 XP_011530003 XM_011531702 XP_011530004 NM_001136257 NP_001129729 NM_001136258 NP_001129730 NM_152621 NP_689834 |
| Function | 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. {ECO:0000269|PubMed:14685263, ECO:0000269|PubMed:17449912}. |
| Subcellular Location | Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Note=Predominantly plasma membrane, some in Golgi apparatus. Some localization in the perinuclear region where it colocalizes with a sialyltransferase. |
| Tissue Specificity | Brain, heart, kidney, liver, muscle and stomach. Also expressed in a number of cell lines such as carcinoma HeLa cells, hepatoma Hep-G2 cells, and colon carcinoma Caco-2 cells. {ECO:0000269|PubMed:14685263}. |
| Top Pathways | Sphingolipid signaling pathway, Sphingolipid metabolism |