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Sodium- and chloride-dependent betaine transporter

Protein-coding gene in the species Homo sapiens

SLC6A12
Identifiers
Aliases	SLC6A12, BGT-1, BGT1, GAT2, solute carrier family 6 member 12
External IDs	OMIM: 603080; MGI: 95628; HomoloGene: 128225; GeneCards: SLC6A12; OMA:SLC6A12 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p13.33 Start 190,077 bp[1] End 214,570 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 F1 Start 121,320,035 bp[2] End 121,342,734 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver putamen right frontal lobe human kidney caudate nucleus cingulate gyrus anterior cingulate cortex amygdala prefrontal cortex nucleus accumbens Top expressed in decidua gastrula left lobe of liver embryo granulocyte neural layer of retina optic nerve ciliary body right kidney morula More reference expression data BioGPS n/a
Gene ontology Molecular function neurotransmitter:sodium symporter activity protein binding symporter activity amino acid transmembrane transporter activity transporter activity gamma-aminobutyric acid:sodium symporter activity neurotransmitter binding Cellular component integral component of membrane plasma membrane integral component of plasma membrane membrane neuron projection Biological process amino acid transport transmembrane transport amino acid transmembrane transport neurotransmitter transport gamma-aminobutyric acid transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6539 14411 Ensembl ENSG00000111181 ENSMUSG00000030109 UniProt P48065 P31651 RefSeq (mRNA) NM_001122847 NM_001122848 NM_001206931 NM_003044 NM_133661 NM_001347433 NM_001381903 NM_001381904 NM_001381905 NM_001381906 RefSeq (protein) NP_001116319 NP_001116320 NP_001193860 NP_003035 n/a Location (UCSC) Chr 12: 0.19 – 0.21 Mb Chr 6: 121.32 – 121.34 Mb PubMed search [3] [4]
Wikidata
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Sodium- and chloride-dependent betaine transporter, also known as Na(+)/Cl(-) betaine/GABA transporter (BGT-1), is a protein that in humans is encoded by the SLC6A12 gene. BGT-1 is predominantly expressed in the liver (hepatocytes).^[5] It is also expressed in the kidney^[5] where it is regulated by NFAT5 during a response to osmotic stress.^[6] Further, BGT1 is also present in the leptomeninges surrounding the brain.^[5] Deletion of the BGT1 gene in mice did not appear to have any impact on the tendency to develop epilepsy.^[7] This is to be expected considering that BGT1 is expressed at far lower levels than GAT1 and also has lower affinity for GABA. This implies that it is not likely to contribute significantly to the inactivation of the inhibitory neurotransmitter GABA.^[7]

• Solute carrier family

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