SLC6A12 (Solute Carrier Family 6 Member 12)
GABA Transporter BGT-1: Gene, Function, and Clinical Relevance
Gene Information Card
| Symbol | SLC6A12 |
|---|---|
| Full Name | Solute Carrier Family 6 Member 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.33 |
| NCBI Gene ID | 6539 ncbi.nlm.nih.gov/gene/6539 |
| Ensembl ID | ENSG00000111181 |
| UniProt ID | P48065 |
| OMIM ID | 603080 |
| HGNC ID | 11046 |
| Aliases | BGT-1, BGT1, GAT2, GAT-2 |
Description
SLC6A12 encodes the sodium- and chloride-dependent betaine/GABA transporter 1 (BGT-1), a member of the solute carrier family 6. This transporter mediates the uptake of gamma-aminobutyric acid (GABA) and betaine across the plasma membrane, playing a key role in osmoregulation and neurotransmitter homeostasis. BGT-1 is expressed in the brain, kidney, and liver, and is implicated in epilepsy, hepatic encephalopathy, and osmotic stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy | Altered GABAergic signaling due to impaired GABA reuptake | PMID: 21572414 |
| Hepatic Encephalopathy | Dysregulation of betaine transport affecting brain osmolyte balance | PMID: 23395176 |
| Osmotic Demyelination Syndrome | Impaired betaine transport in glial cells | PMID: 19439424 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 5.2 | Medium |
| Kidney | 12.8 | High |
| Liver | 3.1 | Low |
| Placenta | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.4 | High expression in transfected cells |
| SH-SY5Y | 2.1 | Endogenous expression |
| HepG2 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072G>A (p.Gly358Arg) | Missense | <0.01% | Reduced GABA transport activity |
| c.1456C>T (p.Pro486Ser) | Missense | <0.01% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Gly358Arg reduce GABA uptake efficiency.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005330 (GABA:sodium symporter activity) | • GO:0015171 (amino acid transmembrane transporter activity) |
| • GO:0005887 (integral component of plasma membrane) | • GO:0006836 (neurotransmitter transport) |
| • GO:0015812 (gamma-aminobutyric acid transport) | • GO:0055085 (transmembrane transport) |
Pathways
• REACT:212676 (GABAergic synapse)
• REACT:212677 (Neurotransmitter clearance)
• REACT:212678 (Betaine metabolism)
Protein Summary
The BGT-1 protein (UniProt P48065) is a 614-amino acid multi-pass membrane protein with 12 transmembrane domains. It functions as a symporter coupling the transport of one GABA or betaine molecule with two sodium ions and one chloride ion. BGT-1 is critical for maintaining low extracellular GABA concentrations in the brain and for cellular osmoprotection in the kidney. Its expression is regulated by osmotic stress and inflammatory signals.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC6A12 Knockout HEK293 Cell Line | EDJ-KQ5029 | Human | 6539 | Details Get a Quote |
| SLC6A12 Knockout HeLa Cell Line | EDJ-KQ54496 | Human | 6539 | Details Get a Quote |
| SLC6A12 Knockout A-549 Cell Line | EDJ-KQ62982 | Human | 6539 | Details Get a Quote |
| SLC6A12 Knockout HCT 116 Cell Line | EDJ-KQ71453 | Human | 6539 | Details Get a Quote |
| SLC6A12 Knockout Huh-7 Cell Line | EDC07779 | Human | 6539 | Details Get a Quote |
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