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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
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver   highly Homo sapiensAdult
Endocrineadrenal gland   predominantly Homo sapiensAdult
Nervousbrain   highly Homo sapiensAdult
 spinal cord    
Respiratorylung    
Urinarykidney    
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal   Homo sapiens
Nervouscentral   
cell lineage stem cells
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text
  • its mRNA and protein levels were low in embryos and increased with age in brain
  • 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