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FLASH GENE
Symbol SMPD2 contributors: mct - updated : 15-10-2010
HGNC name sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)
HGNC id 11121
Location 6q21      Physical location : 109.761.930 - 109.765.121
Synonym name
  • sphingomyelin phosphodiesterase 2, neutral
  • lyso-platelet-activating factor-phospholipase C
  • neutral sphingomyelinase
  • lyso-PAF-PLC
    • Synonym symbol(s) NSMASE, ISC1, NSMASE1, MA-nSMase
    EC.number 3.1.4.12
    DNA
    TYPE functioning gene
    STRUCTURE 3.19 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • promoter with three Sp1 motifs located between -148 and -42bp upstream of the first exon, important in basic as well as in daunorubicin-induced promoter activity )
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1697 - 423 - - 9520418
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly
    Nervousbrain   highly
    Reproductivemale systemmale genital tractepididymis highly
     male systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • neutral sphingomyelinase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    text
  • mitochondria-associated nSMase (MA-nSMase)
    • basic FUNCTION
  • converting sphingomyelin to ceramide
  • one of the key enzymes involved in the generation of ceramide
  • having role in aging and inflammation
  • acts primarily as lyso-platelet-activating factor-phospholipase C (Marchesini 2003)
  • played a role in daunorubicin-induced cell death
  • may increase dopamine uptake through inducing ceramide production and thereby decreasing intracellular calcium levels
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • activity was dependent on Mg(2+)
    • protein
    cell & other
    REGULATION
    activated by phosphatidylserine
    Other regulation through a redox glutathione-dependent mechanism
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    occurs in aging and it underlies the hepatic IL1b hyperresponsiveness
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS