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FLASH GENE
Symbol SLC6A18 contributors: mct - updated : 03-05-2010
HGNC name solute carrier family 6, member 18
HGNC id 26441
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 2141 - 628 - Höglund (2005)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon  
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated GlycoP
HOMOLOGY
interspecies homolog to murine Slc6a18 (82.4pc)
homolog to rattus Slc6a18 (82.5pc)
Homologene
FAMILY
  • sodium:neurotransmitter symporter (SNF) family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • having neurotransmitter/sodium symporter activity
  • functioning as a sodium and chloride-dependent neutral amino acid transporter
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating with TMEM27 for functional expression in kidney
  • SLC6A18, SLC6A19 associate with members of the renin-angiotensin system (RAS), namely TMEM27 and angiotensin-converting enzyme 2 (ACE2), in a tissue specific manner
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism other
  • monoallelic or biallelic variants might contribute to the iminoglycinuria or hyperglycinuria phenotypes (Broer 2008)
  • five polymorphic minisatellites and three monomorphic minisatellites VNTRs (Yoon 2008)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS