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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
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