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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
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