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FLASH GENE
Symbol CERS2 contributors: mct - updated : 16-11-2021
HGNC name LAG1 homolog, ceramide synthase 2
HGNC id 14076
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a region of 11 AAs that appears to be critically involved in determining the acyl chain specificity, not only of CERS5 and CERS2 but also of CERS4
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast longevity assurance lag1
    Homologene
    FAMILY
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    basic FUNCTION
  • may playing a role in the regulation of cell growth
  • regulates synthesis of a specific subset of ceramides and displays a unique substrate specificity profile for chain length and/or saturation in fatty acid acyl-CoA
  • interplay among the CERS proteins (CERS2, CERS5, CERS6) in a stress stimulus-, cell type- and subcellular compartment-specific manner
  • important role for the CERS genes CERS2, CERS6) in breast cancer etiology or diagnosis
  • co-expression of CERS2 with CERS4/CERS6 reversed the inhibitory effect of long chain ceramides on cell proliferation and the induction of apoptosis
  • synthesis of very long chain ceramides is catalyzed by ceramide synthase 2 (CERS2)
  • is crucial for the maintenance of colon barrier function and epithelial integrity
  • Fatty acid elongase ELOVL1 and the ceramide synthase CERS2 were involved in C24:2 ceramide production
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constitutive heterodimer comprising CERS5 and CERS2, and the activity of CERS2 depends on the catalytic activity of CERS5
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ELOVL1 activity is regulated with the ceramide synthase CERS2, an enzyme essential for C24 sphingolipid synthesis
  • phosphorylation of ceramide synthases(CERS2, CERS3, CERS4, CERS5, CERS6) may be a key regulatory point in the control of the distribution and levels of sphingolipids of various acyl-chain lengths
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in progressive myoclonic epilepsy (PME)
    constitutional       loss of function
    CERS2 dysfunction may predispose to inflammatory airway and airspace diseases
    constitutional       loss of function
    precedes tau pathology in the cortical pathogenesis of Alzheimer disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • inactivation of ceramide synthase 2 catalytic activity in mice affects transcription of genes involved in lipid metabolism and cell division