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FLASH GENE
Symbol SLC22A12 contributors: mct/npt - updated : 03-05-2016
HGNC name solute carrier family 22 (organic anion/urate transporter), member 12
HGNC id 17989
DNA
TYPE functioning gene
STRUCTURE 11.71 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   hormone
text structure
  • transcription initiation site was mapped to a base 337 bp upstream of the ATG start codon
  • sex hormone testosterone significantly increases promoter activity (leading to differences in urate levels between males and females)
  • MAPPING cloned Y linked N status provisional
    regionally located near SLC22A11
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 3226 59.5 553 - 2004 15566944
    9 - 2960 35.4 332 - 2004 15566944
    10 - 3124 - 519 - 2004 15566944
    8 - 2902 - 445 - 2004 15566944
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland     Homo sapiens
    Nervousplexus choroid     Homo sapiens
    Urinarykidneytubuleconvoluted tubuleproximal tubulehighly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage    Homo sapiens
    Muscularsmoothvessel   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    Digestivehepatocyte Homo sapiens
    Endocrineislet cell (alpha,beta...) Homo sapiens
    Nervousepithelial cell Homo sapiens
    not specificadipocyte Homo sapiens
    not specificchondrocyte Homo sapiens
    Urinarytubular cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve membrane spanning domains
  • three consensus sequences for N glycosylation
  • two cyclic AMP dependent protein kinase phosphorylation sites
  • HOMOLOGY
    Homologene
    FAMILY
  • solute carrier family 22
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • urate-anion exchanger wich regulates the urate level in blood
  • with SLC22A9, are key transporters in renal reabsorption of perfluorocarboxylates
  • mediates the transport of orotate, and may function as one of the entrance pathways in renal proximal tubular cells
  • involved in the reabsorption of uric acid from the renal tubule
  • primarily regulates the renal tubular reabsorption of uric acid
  • SLC2A9 and SLC22A12 functioned synergistically to transport uric acid into the chondrocyte cytoplasm, which was inhibited by specific gene knockdowns and drug&
  • 8209;induced inhibition
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    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) RHU1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    might contribute to the relative urate underexcretion from the kidney of uric acid stone formers (UASF)
    Susceptibility
  • to obesity and metabolic syndrome in Caucasians with hypertension
  • to variation of uric acid level
  • Variant & Polymorphism other
  • polymorphisms associated with obesity and metabolic syndrome in Caucasians with hypertension
  • five newly described SNPs in the SLC22A11 gene are significantly associated with uric acid level
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS