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FLASH GENE
Symbol SMPD4 contributors: mct - updated : 25-10-2019
HGNC name sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)
HGNC id 32949
Corresponding disease
NEDMABA neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Location 2q21.1      Physical location : 130.908.964 - 130.940.323
Synonym name
  • neutral sphingomyelinase 3
  • SKNY protein
  • nuclear envelope transmembrane protein-13
  • Synonym symbol(s) FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13, NEDMABA, NEDMEBA, NET13,
    EC.number 3.1.4.12
    DNA
    TYPE functioning gene
    STRUCTURE 30.72 kb     20 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3614 - 764 - 2008 18505924
    20 - 3920 - 866 - 2008 18505924
    19 - 3833 - 837 - 2008 18505924
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • lacks an N-terminal signal peptide
  • a protein-protein interaction domain
  • a C-terminal transmembrane domain close to the putative enzyme active site, which includes a potential N-glycosylation site
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nuclear envelope,pore
    text
  • presence of SMPD4 at the endoplasmic reticulum (ER) and the Golgi apparatus, and and to the nuclear envelope
  • SMPD4 is enriched at the nuclear pore complexes (NPCs)
  • basic FUNCTION
  • play a role in sphingolipid homeostasis and membrane structure
  • an important molecule that is linked to tumorigenesis and cellular stress response
  • is a signaling neutral sphingomyelinase (nSMase) in skeletal muscle that is essential for TNF-stimulated oxidant activity
  • SMPD4 links homeostasis of membrane sphingolipids to cell fate by regulating the cross-talk between the ER and the outer nuclear envelope
  • role of SMPD4 in cell fate and mitosis , and primary function of SMPD4 in brain development and in postnatal brain function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDMABA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    deregulated in several types of primary tumors when compared with their matching normal tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS