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FLASH GENE
Symbol SLC6A12 contributors: mct - updated : 23-10-2013
HGNC name solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12
HGNC id 11045
Location 12p13.33      Physical location : 299.249 - 323.371
Synonym symbol(s) BGT1, GAT2, BGT-1
DNA
TYPE functioning gene
STRUCTURE 24.50 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 3177 - 614 - -
16 - 3270 - 614 - -
16 - 3165 - 614 - -
17 - 3500 - 614 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   predominantly Homo sapiens
Nervousbrain    
Reproductivemale systemtestis   
Urinarykidneyrenal medulla    Homo sapiens
 kidneytubuleHenles loop   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Digestivehepatocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 12 transmembrane segments
  • cytoplasmic N and C termini
  • HOMOLOGY
    Homologene
    FAMILY solute carrier family 6, neurotransmitter, betaine/GABA
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • Na+ (and Cl-) dependent plasma membrane, neurotransmitter transporter
  • may have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic
  • terminals, as well as in osmotic regulation
  • plays its main role in the liver, thereby complementing other betaine-transporting carrier proteins (SLC6A20) that are predominantly expressed in the small intestine or kidney rather than the liver
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • AMPK is a powerful regulator of the organic osmolyte transporters SLC5A3 and SLC6A12 and thus interacts with cell volume regulation
  • JAK2 is a novel regulator of the GABA transporter SLC6A12 (the kinase up-regulates the carrier presumably by enhancing the insertion of carrier protein into the cell membrane)
  • cell & other
    REGULATION
    activated by tonicity responsive enhancers (TONE1-TONE2),located in the 5'flanking region of the gene
    JAK2, that up-regulates the GABA transporter BGT1 (SLC6A12)
    inhibited by can be inhibited acutely by extracellular Ca(2+) through a mechanism involving SLC6A12 internalization, and protein kinase C may play a role
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    mRNA expression is altered by status epilepticus and displays a temporal pattern with similarities to both GABA and osmolyte transporters
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Bgt1-deficient and wild-type mice appeared to tolerate the salt treatment equally well, possibly because betaine is one of several osmolytes