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

Summary

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, Dec 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

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
GAT-2 deficiency promotes Th17 cell responses through activation of GABA-mTOR signaling
Title: Slc6a13 deficiency promotes Th17 responses during intestinal bacterial infection.
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.
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.
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.
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.

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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

Gabt2 (e-PCR), detects polymorphism
- UniSTS:143156

Slc6a12 (e-PCR), detects polymorphism
- UniSTS:525660

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)

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
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
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
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
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
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

NC_000072.7 Reference GRCm39 C57BL/6J

Range

121319533..121342732

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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