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FLASH GENE
Symbol SLC19A2 contributors: mct - updated : 17-12-2011
HGNC name solute carrier family 19 (thiamine transporter), member 2
HGNC id 10938
Corresponding disease
TRMA thiamine responsive megaloblastic anemia
Location 1q24.2      Physical location : 169.433.150 - 169.455.208
Synonym name
  • reduced folate carrier protein (RFC) like
  • high affinity thiamine transporter
  • Synonym symbol(s) THTR1, TC1, THT1, TRMA
    DNA
    TYPE functioning gene
    STRUCTURE 22.06 kb     6 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    MAPPING cloned Y linked Y status confirmed
    Map see TRMA
    regionally located located between D1S194 and D1S2786
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3655 - 497 - 2003 12454006
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Reproductivemale systemprostate   
    Respiratorylung   lowly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve transmembrane domains homolog to reduced folate transporter containing ten transmembrane spanning segments,with intracytoplasmic N and C termini and
  • an extended intra cellular loop between transmenbrane helices 6 and 7
  • two glycosylation sites
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to C.elegans Cf37b4.7
    homolog to murine Slc19a2
    homolog to Drosophila Cg6574
    homolog to C.elegans C50e3.11
    Homologene
    FAMILY solute carrier family 19,thiamine,folate
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • thiamine transporter
  • uptake of thiamine was adaptively regulated by extracellular substrate level via transcriptionally mediated mechanisms that involve both SLC19A2 and SLC19A3
  • involved in thiamin uptake by the endocrine pancreas
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TRMA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS