| Tbio | Phosphatidylcholine:ceramide cholinephosphotransferase 2 |
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.
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]
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]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| lung carcinoma | 2843 | 9.7e-17 |
| non-small cell lung cancer | 2890 | 6.3e-16 |
| lung adenocarcinoma | 2716 | 2.6e-09 |
| pituitary cancer | 1972 | 2.8e-08 |
| ependymoma | 4679 | 9.4e-07 |
| Breast cancer | 3578 | 1.1e-06 |
| ovarian cancer | 8520 | 2.3e-05 |
| nasopharyngeal carcinoma | 1058 | 2.9e-05 |
| medulloblastoma, large-cell | 6241 | 2.1e-04 |
| hepatocellular carcinoma | 547 | 6.8e-04 |
| tuberculosis | 2010 | 1.7e-03 |
| osteosarcoma | 7950 | 2.2e-03 |
| group 3 medulloblastoma | 4104 | 4.9e-03 |
| active Crohn's disease | 922 | 7.3e-03 |
| spina bifida | 1074 | 1.7e-02 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 1.9e-02 |
| active ulcerative colitis | 764 | 2.6e-02 |
| atypical teratoid / rhabdoid tumor | 5112 | 2.6e-02 |
| non diabetic and post-ischemic heart failure | 200 | 3.2e-02 |
| Rheumatoid arthritis | 1191 | 4.8e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Fetal alcohol spectrum disorder | 7 | 3.344 | 1.7 |
| Disease | log2 FC | p |
|---|---|---|
| active Crohn's disease | 1.018 | 7.3e-03 |
| active ulcerative colitis | 1.355 | 2.6e-02 |
| atypical teratoid / rhabdoid tumor | 1.800 | 2.6e-02 |
| Breast cancer | -1.800 | 1.1e-06 |
| ependymoma | 1.600 | 9.4e-07 |
| group 3 medulloblastoma | -1.500 | 4.9e-03 |
| hepatocellular carcinoma | 1.100 | 6.8e-04 |
| intraductal papillary-mucinous neoplasm ... | 1.800 | 1.9e-02 |
| lung adenocarcinoma | -1.200 | 2.6e-09 |
| lung carcinoma | -2.200 | 9.7e-17 |
| medulloblastoma, large-cell | 1.200 | 2.1e-04 |
| nasopharyngeal carcinoma | -2.500 | 2.9e-05 |
| non diabetic and post-ischemic heart fai... | -1.200 | 3.2e-02 |
| non-small cell lung cancer | -2.145 | 6.3e-16 |
| osteosarcoma | 3.175 | 2.2e-03 |
| ovarian cancer | -2.500 | 2.3e-05 |
| pituitary cancer | -3.600 | 2.8e-08 |
| Rheumatoid arthritis | 1.500 | 4.8e-02 |
| spina bifida | -2.587 | 1.7e-02 |
| tuberculosis | -1.200 | 1.7e-03 |
MDIIETAKLEEHLENQPSDPTNTYARPAEPVEEENKNGNGKPKSLSSGLRKGTKKYPDYIQIAMPTESRN 1 - 70 KFPLEWWKTGIAFIYAVFNLVLTTVMITVVHERVPPKELSPPLPDKFFDYIDRVKWAFSVSEINGIILVG 71 - 140 LWITQWLFLRYKSIVGRRFCFIIGTLYLYRCITMYVTTLPVPGMHFQCAPKLNGDSQAKVQRILRLISGG 141 - 210 GLSITGSHILCGDFLFSGHTVTLTLTYLFIKEYSPRHFWWYHLICWLLSAAGIICILVAHEHYTIDVIIA 211 - 280 YYITTRLFWWYHSMANEKNLKVSSQTNFLSRAWWFPIFYFFEKNVQGSIPCCFSWPLSWPPGCFKSSCKK 281 - 350 YSRVQKIGEDNEKST 351 - 365 //
