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Slc6a12 solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 [ Mus musculus (house mouse) ]

Gene ID: 14411, updated on 2-Nov-2024

Summary

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Official Symbol
Slc6a12provided by MGI
Official Full Name
solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12provided by MGI
Primary source
MGI:MGI:95628
See related
Ensembl:ENSMUSG00000030109 AllianceGenome:MGI:95628
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
BGT1; GAT2; BGT-1; GAT-2; Gabt2
Summary
Enables gamma-aminobutyric acid:sodium:chloride symporter activity. Involved in gamma-aminobutyric acid transport and glycine betaine transport. Located in basolateral plasma membrane. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and liver and biliary system. Orthologous to human SLC6A12 (solute carrier family 6 member 12). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in liver adult (RPKM 40.1), placenta adult (RPKM 10.5) and 1 other tissue See more
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Genomic context

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See Slc6a12 in Genome Data Viewer
Location:
6 F1; 6 57.25 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (121319533..121342732)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (121342574..121365773)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:121222283-121222466 Neighboring gene predicted gene, 44148 Neighboring gene ubiquitin specific peptidase 18 Neighboring gene solute carrier family 6 (neurotransmitter transporter, GABA), member 13 Neighboring gene STARR-positive B cell enhancer ABC_E6482 Neighboring gene IQ motif and Sec7 domain 3 Neighboring gene STARR-seq mESC enhancer starr_17212 Neighboring gene STARR-seq mESC enhancer starr_17213 Neighboring gene voltage-dependent anion-selective channel protein 2 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Transcriptomic Analysis of the Effect of GAT-2 Deficiency on Differentiation of Mice Naïve T Cells Into Th1 Cells In Vitro. Ding X, et al. Front Immunol, 2021. PMID 34149704, Free PMC Article
  2. Expression of a mouse brain cDNA encoding novel gamma-aminobutyric acid transporter. Lopez-Corcuera B, et al. J Biol Chem, 1992 Sep 5. PMID 1517200
  3. Hippocampal betaine/GABA transporter mRNA expression is not regulated by inflammation or dehydration post-status epilepticus. Rowley NM, et al. J Neurochem, 2011 Apr. PMID 21219332, Free PMC Article
  4. The betaine-GABA transporter (BGT1, slc6a12) is predominantly expressed in the liver and at lower levels in the kidneys and at the brain surface. Zhou Y, et al. Am J Physiol Renal Physiol, 2012 Feb 1. PMID 22071246
  5. Slc6a13 deficiency promotes Th17 responses during intestinal bacterial infection. Ren W, et al. Mucosal Immunol, 2019 Mar. PMID 30523310

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Transcriptomic Analysis of the Effect of GAT-2 Deficiency on Differentiation of Mice Naive T Cells Into Th1 Cells In Vitro.
    Title: Transcriptomic Analysis of the Effect of GAT-2 Deficiency on Differentiation of Mice Naïve T Cells Into Th1 Cells In Vitro.
  2. Pharmacological Characterization of a Betaine/GABA Transporter 1 (BGT1) Inhibitor Displaying an Unusual Biphasic Inhibition Profile and Anti-seizure Effects.
    Title: Pharmacological Characterization of a Betaine/GABA Transporter 1 (BGT1) Inhibitor Displaying an Unusual Biphasic Inhibition Profile and Anti-seizure Effects.
  3. GAT-2 deficiency promotes Th17 cell responses through activation of GABA-mTOR signaling
    Title: Slc6a13 deficiency promotes Th17 responses during intestinal bacterial infection.
  4. Deletion of the gamma-aminobutyric acid transporter 2 (GAT2 and SLC6A13) gene in mice leads to changes in liver and brain taurine contents.
    Title: Deletion of the γ-aminobutyric acid transporter 2 (GAT2 and SLC6A13) gene in mice leads to changes in liver and brain taurine contents.
  5. This study suggests that BGT1 plays its main role in the liver, thereby complementing other betaine-transporting carrier proteins (e.g., slc6a20) that are predominantly expressed in the small intestine or kidney rather than the liver.
    Title: The betaine-GABA transporter (BGT1, slc6a12) is predominantly expressed in the liver and at lower levels in the kidneys and at the brain surface.
  6. Mice lacking exons 3-5 of the BGT1 gene have normal development & show seizure susceptibility indistinguishable from wild-type in a variety of seizure threshold models. This does not support a role for BGT1 in the control of seizure susceptibility.
    Title: Deletion of the betaine-GABA transporter (BGT1; slc6a12) gene does not affect seizure thresholds of adult mice.
  7. Betaine/GABA transporter 1 (BGT1) mRNA expression is altered following status epilepticus in hippocampus.
    Title: Hippocampal betaine/GABA transporter mRNA expression is not regulated by inflammation or dehydration post-status epilepticus.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (3)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables gamma-aminobutyric acid:sodium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables gamma-aminobutyric acid:sodium:chloride symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables gamma-aminobutyric acid:sodium:chloride symporter activity ISO
Inferred from Sequence Orthology
more info
  
enables gamma-aminobutyric acid:sodium:chloride symporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables monocarboxylic acid transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in amino acid transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in gamma-aminobutyric acid transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in gamma-aminobutyric acid transport ISO
Inferred from Sequence Orthology
more info
  
involved_in gamma-aminobutyric acid transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in glycine betaine transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in intracellular water homeostasis ISO
Inferred from Sequence Orthology
more info
  
involved_in monocarboxylic acid transport ISO
Inferred from Sequence Orthology
more info
  
involved_in neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cell projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
sodium- and chloride-dependent betaine transporter
Names
Na(+)/Cl(-) betaine/GABA transporter
gamma-aminobutyric acid (GABA-A) transporter 2
sodium- and chloride-dependent GABA transporter 2
solute carrier family 6 member 12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001347433.1 → NP_001334362.1  sodium- and chloride-dependent betaine transporter isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and results in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC153982
    Consensus CDS
    CCDS90118.1
    UniProtKB/Swiss-Prot
    P31651
    UniProtKB/TrEMBL
    G5E8Z4
    Related
    ENSMUSP00000126937.2, ENSMUST00000166457.8
    Conserved Domains (1) summary
    cl00456
    Location:35 → 575
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  2. NM_001381903.1 → NP_001368832.1  sodium- and chloride-dependent betaine transporter isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC153982
    UniProtKB/Swiss-Prot
    P31651
    UniProtKB/TrEMBL
    G5E8Z4
    Conserved Domains (1) summary
    cl00456
    Location:35 → 575
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  3. NM_001381904.1 → NP_001368833.1  sodium- and chloride-dependent betaine transporter isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC153982
    UniProtKB/Swiss-Prot
    P31651
    UniProtKB/TrEMBL
    G5E8Z4
    Conserved Domains (1) summary
    cl00456
    Location:35 → 575
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  4. NM_001381905.1 → NP_001368834.1  sodium- and chloride-dependent betaine transporter isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC153982
    UniProtKB/Swiss-Prot
    P31651
    UniProtKB/TrEMBL
    G5E8Z4
    Conserved Domains (1) summary
    cl00456
    Location:35 → 575
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  5. NM_001381906.1 → NP_001368835.1  sodium- and chloride-dependent betaine transporter isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC153982
    UniProtKB/Swiss-Prot
    P31651
    Conserved Domains (1) summary
    cl00456
    Location:49 → 589
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

  6. NM_133661.3 → NP_598422.2  sodium- and chloride-dependent betaine transporter isoform 1

    See identical proteins and their annotated locations for NP_598422.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC153982
    Consensus CDS
    CCDS39616.1
    UniProtKB/Swiss-Prot
    P31651
    UniProtKB/TrEMBL
    Q8VCS9
    Related
    ENSMUSP00000032200.10, ENSMUST00000032200.16
    Conserved Domains (1) summary
    cl00456
    Location:49 → 589
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    121319533..121342732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006505536.1 → XP_006505599.1  sodium- and chloride-dependent betaine transporter isoform X1

    See identical proteins and their annotated locations for XP_006505599.1

    UniProtKB/Swiss-Prot
    P31651
    UniProtKB/TrEMBL
    G5E8Z4
    Related
    ENSMUSP00000126708.2, ENSMUST00000171008.8
    Conserved Domains (1) summary
    cl00456
    Location:35 → 575
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P31651.1 GenPept UniProtKB/Swiss-Prot:P31651

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