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FLASH GENE
Symbol SLC22A18 contributors: SGE/npt - updated : 24-04-2009
HGNC name solute carrier family 22, member 18
HGNC id 10964
DNA
TYPE functioning gene
SPECIAL FEATURE head to head, opposite orientation
STRUCTURE 25.53 kb     11 Exon(s)
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
Binding site   transcription factor
text structure two Sp1 binding sites
MAPPING cloned Y linked   status provisional
Map pter - ASCL2 - CD81 - KCNQ1 - CDKN1C - SLC22A18 /SLC22A18AS - PHLDA2 - NAP1L4 - cen
Authors Dao (98)
regionally located located in the Beckwith-Wiedemann imprinted domain,17kb centromeric to p57(KIP2) and 3kb telomeric to TSSC3, centromeric imprinting domain at 11p15.5
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 1580 44.7 424 - Akiyama
11 - 1563 44.7 424 - Akiyama
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
 liver   highly
Endocrinepancreas   highly
Skin/Tegumentskin   highly
Urinarykidney    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text kidney, liver
IMPRINTING paternally
text relative repression of paternal allele, paternally suppressed in fetal samples, as SLC22A18AS is also paternally suppressed in fetal samples
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ten transmembrane domains
  • three A-C motifs specific for family I transporters
    • HOMOLOGY
    interspecies ortholog to murine Slc22a1l
    Homologene
    FAMILY
  • solute carrier family 22, organic cation
  • polyspecific transporter/multidrug resistance gene family
    • CATEGORY tumor suppressor , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • polyspecific transporter for organic cation, sodium independent
  • inducing tumor cell growth arrest
  • tumor suppressing subchromosomal transferable for chloroquine and quinidine-related compounds
  • polyspecific transmembrane transporter involved in
    • tetracycline transport
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , excretion
    text
  • embryonic development small molecule transport
    • PATHWAY
    metabolism
    signaling
    a component
  • putative protein constituent of membrane
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • target of UBE2E1-RNF167 complex (define a novel ubiquitin-proteasome pathway)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BWS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    LOH in lung cancer and in embryonal tumors
    tumoral     --low  
    in hepatoblastoma
    tumoral imprinting      
    gain of imprinting (GOI) in 18p100 for SLC22A18 and 14p100 for SLC22A18AS, in breast cancer, GOI in hepatocarcinomas
    Susceptibility Wilms'tumor, rhabdomyosarcoma (OMIM268210) and hepatoblastoma
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS