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FLASH GENE
Symbol SGMS2 contributors: mct/npt/pgu - updated : 22-11-2007
HGNC name sphingomyelin synthase 2
HGNC id 28395
DNA
TYPE functioning gene
STRUCTURE 90.48 kb     6 Exon(s)
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 6246 42 365 - 2008 19233134
6 - 5970 - 365 - 2008 19233134
7 - 6162 - 365 - 2008 19233134
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   moderately
 mouthtongue  moderately
 stomach   highly
Endocrinethyroid   predominantly
Hearing/Equilibriumear   highly
Nervousbrainlimbic systemhippocampus   Homo sapiens
Reproductivemale systemtestis  highly
Respiratorylung   moderately
 respiratory tracttrachea  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular   highly
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES acid Hydrophilic
STRUCTURE
motifs/domains
  • six transmembrane regions,
  • C-terminal cysteine cluster of the enzyme is palmitoylated and resides in the cytoplasm
  • secondary structure five membrane-spanning alpha helices connected by hydrophilic extramembrane loops as well as 4 highly conserved motifs, designated D1 to D4
    HOMOLOGY
    interspecies homolog to murine Sgms2 (91.5 pc)
    Homologene
    FAMILY
  • sphingomyelin synthase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text
  • predominantly plasma membrane
  • distributed in both plasma membranes and the Golgi apparatus, but posttranslational modification is important for determination of the subcellular localization
  • localizes both at the Golgi and the plasma membrane
  • basic FUNCTION
  • SGMS1, SGMS2 are capable of regulating the formation of DAG in cells, this pool of DAG is biologically active, and SGMS1 and SGMS2 are directly implicated as regulators of DAG-binding proteins in the Golgi apparatus
  • displays dual activity as ceramide phosphoethanolamine synthase
  • catalyzes the transfer of phosphocholine from phosphatidylcholine to ceramide for sphingomyelin synthesis
  • acting as a bidirectional lipid cholinephosphotransferase capable of converting phosphatidylcholine (PC) and ceramide to sphingomyelin (SM) and diacylglycerol (DAG) and vice versa
  • required for cell growth
  • SGMS1 and SGMS2 are capable of regulating trans golgi network-mediated protein trafficking and secretion, functions that are compatible with PKD being a down-stream target for SGMSs in the Golgi
  • SGMS1 and SGMS2 play distinct roles in regulating local SM (Sphingomyelin)clustering
  • SGMS2, rather than SGMS1, is likely to be the major enzyme that is important for SM synthesis in the long neurites and its tip, the growth cone
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    sphingolipid metabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • caspase target that is functionally involved in the regulation of FASLG-induced apoptosis
  • cell & other
    REGULATION
    inhibited by bacterial PC-phospholipase C inhibitor D609
    Other palmitoylated via thioester bonds, and this posttranslational modification has an important role in determination of the plasma-membrane localization
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS