InnateDB Protein
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IDBP-241086.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SGMS2
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Protein Name
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sphingomyelin synthase 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000378178
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InnateDB Gene
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IDBG-33373 (SGMS2)
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Protein Structure
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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:0000269PubMed:14685263, ECO:0000269PubMed:17449912}.
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Subcellular Localization |
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.
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Disease Associations |
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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:0000269PubMed:14685263}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000326
Phosphatidic acid phosphatase type 2/haloperoxidase
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PFAM |
PF01569
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PRINTS |
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PIRSF |
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SMART |
SM00014
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TIGRFAMs |
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Modification |
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SwissProt |
Q8NHU3
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PhosphoSite |
PhosphoSite-Q8NHU3
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TrEMBL |
E5RJU3
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UniProt Splice Variant |
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Entrez Gene |
166929
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UniGene |
Hs.706939
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RefSeq |
NP_689834
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HUGO |
HGNC:28395
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OMIM |
611574
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CCDS |
CCDS3677
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HPRD |
11323
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IMGT |
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EMBL |
AC096564
AF452717
AK290344
AK314049
BC028705
BC041369
CH471057
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GenPept |
AAH28705
AAH41369
AAP13352
BAF83033
BAG36758
EAX06211
EAX06212
EAX06213
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