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FLASH GENE
Symbol SPTLC2 contributors: mct - updated : 22-12-2018
HGNC name serine palmitoyltransferase, long chain base subunit 2
HGNC id 11278
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a peptide sequence motif, signature of Lc62 proteins
  • also part of the catalytic domain
    • HOMOLOGY
    interspecies ortholog to murine Sptlc2
    Homologene
    FAMILY
  • aminolevulinate synthetase superfamily
  • class-II pyridoxal-phosphate-dependent aminotransferase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • localizes dually to the ER and the outer mitochondrial membrane
    • basic FUNCTION
  • initial step in sphingolipid biosynthesis, key enzyme for regulating cellular sphingolipid content
  • catalyzes the first and rate-limiting step in the de novo sphingolipid synthesis pathway
  • SPTLC2, a subunit of the serine palmitoyltransferase (SPT) complex, catalyzing the first step in de novo sphingolipid synthesis, localizes dually to the ER and the outer mitochondrial membrane
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
  • mitochondrial SPTLC2 interacts and forms a complex in trans with the ER-localized SPT subunit SPTLC1
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SPTSSA, SPTSSB share a conserved hydrophobic central domain predicted to reside in the membrane, and each interacts with both SPTLC1 and SPTLC2
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HSAN6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    deficiency of SPTLC2 induces necrotic lesions in gastrointestinal cells followed by atrophic change of the tissue in short term
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • plasma from Sptlc2 knock-out mice had a significantly stronger potential for promoting cholesterol efflux from macrophages than from wild-type mice because of a greater amount of apoE in the circulation