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FLASH GENE
Symbol SLC52A3 contributors: mct - updated : 15-06-2013
HGNC name solute carrier family 52, riboflavin transporter, member 3
HGNC id 16187
Corresponding disease
BVVLS Brown-Vialetto-Van Laere syndrome
Location 20p13      Physical location : -
Synonym name
  • hypothetical protein LOC113278
  • riboflavin transporter 2
  • chromosome 20 open reading frame 54
  • Synonym symbol(s) MGC10698, bA371L19.1, RFT2, C20orf54, RFVT3
    DNA
    TYPE functioning gene
    STRUCTURE 8.51 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2716 50.7 469 - 2009 19122205
    EXPRESSION
    Rna function jejunum, ileum
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly Homo sapiensmRNA
     intestinesmall intestine  highly Homo sapiens
     intestinelarge intestinecolon highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve transmembrane (potential) domains
  • HOMOLOGY
    interspecies homolog to Drosophila CG11576
    ortholog to rat rRFT2
    Homologene
    FAMILY
  • PERVR family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • a potential role for specific cysteine residues in the cell surface expression of SLC52A3 in human intestinal epithelial cells (
  • basic FUNCTION
  • involved in the synthesis of molecules with pivotal role in cell energy metabolism
  • could transport riboflavin efficiently, and may play a role in the intestinal absorption of riboflavin
  • involved in the intestinal absorption of riboflavin (
  • transporter involved in the epithelial uptake of riboflavin in the small intestine for its nutritional utilization (
  • responsible for transporting riboflavin, and deficiency of riboflavin has been documented as a risk factor for esophageal squamous cell carcinoma (ESCC)
  • likely to have an important role in esophageal and gastric cardia carcinogenesis that involves modulating riboflavin absorption
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BVVLS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in gastric cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS