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FLASH GENE
Symbol SGMS2 contributors: mct/npt/pgu - updated : 22-11-2007
HGNC name sphingomyelin synthase 2
HGNC id 28395
Location 4q25      Physical location : 108.745.720 - 108.836.200
Synonym name
  • SM synthase
  • phosphatidylcholine:ceramide cholinephosphotransferase 2
  • Synonym symbol(s) SMS2, MGC26963
    EC.number 2.7.8.27
    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