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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
    Physical map
    GCSH 16q24 glycine cleavage system protein H (aminomethyl carrier) GPR161 1q23.3 G protein-coupled receptor 161 MGC3794 1q23.2 putative MAPK activating protein RPL34P1 1q23-q24 ribosomal protein L34 pseudogene 1 LOC375035 1q23.3 hypothetical protein LOC375035 MGC12538 1q23.3 hypothetical protein MGC12538 TBX19 1q23-q24 T-box 19 LOC391131 1 similar to glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 XCL2 1q23-q25 chemokine (C motif) ligand 2 XCL1 1q23 chemokine (C motif) ligand 1 DPT 1q12-q23 dermatopontin MGC4473 1q23.3 hypothetical protein MGC4473 LOC391132 1 similar to ribosomal protein L29 ATP1B1 1q23.2-q23.3 ATPase, Na+/K+ transporting, beta 1 polypeptide NME7 1q24 non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) BLZF1 1q24-q25 basic leucine zipper nuclear factor 1 (JEM-1) LOC57821 1q24 hypothetical protein LOC57821 SLC19A2 1q23.2-q23.3 solute carrier family 19 (thiamine transporter), member 2 F5 1q23.2-q23.3 coagulation factor V (proaccelerin, labile factor) SELP 1q23.2-q41.2 selectin P (granule membrane protein 140kDa, antigen CD62) SELL 1q23.2-q23.3 selectin L (lymphocyte adhesion molecule 1) SELE 1q23.2-q23.1 selectin E (endothelial adhesion molecule 1) MGC9084 1q23.3 hypothetical protein MGC9084 FLJ10706 1q23.3 hypothetical protein FLJ10706 PACE-1 1q23.3 ezrin-binding partner PACE-1 KIFAP3 1q23.2 kinesin-associated protein 3 MRPS10P1 1q23.2 mitochondrial ribosomal protein S10 pseudogene 1 LOC149281 1q23.3 similar to AD-003 protein LOC388713 1 LOC388713 FLJ11752 1q23.3 NTKL-binding protein 1 PRRX1 1q23-1q25 paired related homeobox 1
    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