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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
DNA
TYPE functioning gene
STRUCTURE 158.00 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
motif repetitive sequence   ALU   long interspersed repetitive elements
text structure
  • minimal promoter regions were within approximately 100 bp relative to their adjacent exons
  • SVCT2 exon 1b promoter does not contain a classical TATA box, we found that it does contain a functional initiator that binds Yin Yang-1 (YY1) and interacts with upstream Sp1/Sp3 elements in the proximal promoter region
    • MAPPING cloned Y linked   status provisional
    Map pter - D20S97 - SLC23A1 - D20S779 - cen
    RNA
    TRANSCRIPTS type messenger
    text an additional 5'-UTR transcript variant termed exon 1b, in addition to the previously described exon 1a
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 6953 - 650 - Steiling (2007)
    17 - 6971 - 650 - Steiling (2007)
    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