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FLASH GENE
Symbol SLC23A2 contributors: mct/npt/pgu - updated : 25-08-2011
HGNC name solute carrier family 23 (nucleobase transporters), member 2
HGNC id 10973
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N and C cytosolic termini
  • twelve transmembrane spanning segments
  • four potential N-linked glycosylation motifs and a conserved signaling motif
  • potential sites for N-glycosylation in its extracellular domains (Asn-188, Asn-196), essential for vitamin C transporter functionality
    • HOMOLOGY
    interspecies homolog to C.elegans C51E3.6
    homolog to rattus Svct1
    intraspecies paralog to SLC23A1
    Homologene
    FAMILY
  • xanthine/uracil permease family
  • SLC23A subfamily
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • sodium-dependent vitamin C transporter, required for transport of ascorbic acid into many tissues and across the placenta
  • role in transporting the dietary essential micronutrient ascorbic acid, the reduced and active form of vitamin C
  • uptake of ascorbic acid in the peripheral nervous system is crucially dependent on the expression and activity of SLC23A2
  • mediating zinc-induced osteopontin and osteocalcin expression and partly regulating zinc induced osteoblastic differentiation
  • plays an important role in cellular accumulation of ascorbic acid in liver cells
  • critical for maintaining vitamin C levels in fetal and placental tissues
  • SLC23A2-mediated uptake of vitamin C could play diverse roles on skeletal muscle development and physiology
  • required for life and is critical during brain development to supply adequate levels of ASC (ascorbic acid)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NOTCH, APP
    • cell & other
    REGULATION
    Other is differentially regulated during embryonic development and in adulthood
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to preterm delivery
    Variant & Polymorphism SNP increasing the risk for preterm delivery
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurology  
    therapeutic approaches to peripheral neuropathies by manipulation of SLC23A2 function
    ANIMAL & CELL MODELS
  • lack of Svct2, and the resulting low vitamin C levels, results in fetal death and, in SVCT2(-/-) mice that survive the gestation period, in oxidative stress and cell death
  • mice that lack the Svct2 die at birth, despite the ability to synthesize their own ASC by embryonic day 15