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FLASH GENE
Symbol SLC2A9 contributors: mct/npt - updated : 14-12-2011
HGNC name solute carrier family 2 (facilitated glucose transporter), member 9
HGNC id 13446
Corresponding disease
RHU2 renal hypouricemia 2
Location 4p16.1      Physical location : 9.827.849 - 10.041.872
Synonym name
  • urate voltage-driven efflux transporter 1
  • human glucose transporter-like protein-9
  • Synonym symbol(s) GLUT9, GLUTX, GTR9, URATv1, UAQTL2
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 214.03 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC391624 4 similar to ubiquitin-specific protease 17-like protein LOC391625 4 similar to ubiquitin-specific protease 17-like protein LOC391626 4 similar to ubiquitin-specific protease 17-like protein LOC391627 4 similar to ubiquitin-specific protease 17-like protein LOC391628 4 similar to ubiquitin-specific protease 17-like protein LOC389200 4 similar to hypothetical protein LOC169270 LOC285479 4p16.1 hypothetical gene supported by NM_030930; AY007125 LOC391629 4 similar to seven transmembrane helix receptor LOC391630 4 similar to seven transmembrane helix receptor LOC391631 4 similar to Alkaline sphingomyelinase LOC285544 4p16.1 similar to mannosyltransferase LOC391632 4 similar to putative taste receptor HTR2 LOC389201 4 LOC389201 DRD5 4p16.1 dopamine receptor D5 SLC2A9 4p16-p15.3 solute carrier family 2 (facilitated glucose transporter), member 9 WDR1 4p16.1 WD repeat domain 1
    RNA
    TRANSCRIPTS type messenger
    text with three transcripts
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 1874 - 540 . mainly localized to the membrane of proximal tubular kidney cells, the placenta, the liver, and to a lesser extent the lung, leukocytes, chrondrocytes and brain . most strongly expressed in basolateral membranes of proximal renal tubular cells, in liver and placenta . basolateral localization 2000 10860667
    also called variant 1 or GLUT9L
    13 - 1885 - 511 . prominently expressed in the kidney . seems to be expressed only in the apical membranes of polarized renal tubular cells and in placenta 2000 10860667
  • variant 2 or GLUT9deltaN or GLUT9S
  • association between the SLC2A9 isoform 2 and urate concentrations
  • apical localization
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx    
    Reproductivefemale systemovary   
    Urinarykidneytubuleconvoluted tubuleproximal tubule 
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Connectivecartilage   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    not specificchondrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • characteristic 12 transmembrane helices
  • sugar transporter motifs and other signatures of facilitated sugar transporters
  • although it lacks the features of a high-affinity glucose transporter, suggesting alternative substrates
  • HOMOLOGY
    interspecies homolog to murine slc2a9
    intraspecies homolog to GLUT1,GLUT5
    Homologene
    FAMILY
  • major facilitator superfamily
  • sugar transporter family
  • glucose transporter subfamily
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing a role in maintaining glucose homeostasis
  • involvement of the protein in uric acid excretion in the kidney
  • a fructose and a urate transporter
  • play a key role in urate reabsorption on both urine and blood sides of the renal proximal tubules
  • directly regulates plasma uric acid (urate) levels by transporting uric acid out of the tubular cell, in a voltage-driven manne (Houlihan 2010)
  • link between cognitive ability in old age, in particular memory performance, to SLC2A9 (Houlihan 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS facilitated diffusion transport
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • functional cooperation of SLC22A12 and SLC22A9 is essential for renal reabsorption of urate, and in the established system influence of drugs on serum urate (SUA) is reflected in the alteration of urate permeability across the renal tubular epithelial cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RHU2
    Susceptibility to gout
    Variant & Polymorphism SNP , other
  • significant association between the SLC2A9 isoform 2 and urate concentrations and gout
  • genetic variants significantly associated with uric acid levels, association strongly modified by age and sex (Brandstätter 2009)
  • Candidate gene
    Marker
    Therapy target can be a promising therapeutic target for hyperuricemia, gout, and related cardiovascular diseases
    ANIMAL & CELL MODELS