SLC6A13: GABA Transporter 2 (GAT2) Gene
Solute Carrier Family 6 Member 13 – Neurotransmitter Transporter and Disease Associations
Gene Information Card
| Symbol | SLC6A13 |
|---|---|
| Full Name | Solute carrier family 6 member 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.33 |
| NCBI Gene ID | 6540 ncbi.nlm.nih.gov/gene/6540 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q9NSD5 |
| OMIM ID | 607971 |
| HGNC ID | 11013 |
| Aliases | GAT2, GAT-2, GABT2 |
Description
SLC6A13 encodes the GABA transporter 2 (GAT2), a member of the solute carrier family 6 (neurotransmitter transporter) family. GAT2 mediates the sodium- and chloride-dependent reuptake of gamma-aminobutyric acid (GABA) from the synaptic cleft, thereby terminating GABAergic neurotransmission. The protein is expressed in the brain, liver, kidney, and other tissues. Variants in SLC6A13 have been associated with neurodevelopmental disorders and epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, early-onset, with or without developmental delay | Loss-of-function variants impair GABA reuptake, leading to altered inhibitory signaling | ClinVar, OMIM |
| Neurodevelopmental disorder with hypotonia and autistic features | Homozygous missense mutations reduce transporter activity | OMIM #607971, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 15.2 | High |
| Testis | 5.1 | Low |
| Placenta | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.5 | Neuronal model |
| HepG2 (hepatocellular carcinoma) | 9.8 | Liver model |
| HEK293 (embryonic kidney) | 14.1 | High expression |
| U-87 MG (glioblastoma) | 7.2 | Glial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132G>A (p.Gly378Arg) | Missense | Rare | Reduced GABA uptake (loss of function) |
| c.1400T>C (p.Leu467Pro) | Missense | Rare | Impaired trafficking and activity |
| c.1666C>T (p.Arg556*) | Nonsense | Very rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that reduce or abolish GABA transport activity, associated with epilepsy and neurodevelopmental disorders.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC6A13.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GABA:sodium symporter activity (GO:0005330) | • gamma-aminobutyric acid transport (GO:0015812) |
| • integral component of plasma membrane (GO:0005887) | • symporter activity (GO:0015293) |
| • chemical synaptic transmission (GO:0007268) |
Pathways
• Neurotransmitter uptake and metabolism (Reactome: R-HSA-112314)
• GABAergic synapse (KEGG: hsa04727)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
The SLC6A13 protein (GAT2) is a 602-amino acid multi-pass transmembrane transporter with 12 transmembrane domains. It belongs to the SLC6 family and functions as a sodium/chloride-dependent symporter for GABA. GAT2 is expressed in brain, liver, kidney, and other tissues. Its primary role is clearing GABA from the synaptic cleft, modulating inhibitory neurotransmission. Mutations causing loss of function are linked to epilepsy and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC6A13 Knockout HEK293 Cell Line | EDJ-KQ15282 | Human | 6540 | Details Get a Quote |
| SLC6A13 Knockout HeLa Cell Line | EDJ-KQ54497 | Human | 6540 | Details Get a Quote |
| SLC6A13 Knockout A-549 Cell Line | EDJ-KQ62983 | Human | 6540 | Details Get a Quote |
| SLC6A13 Knockout HCT 116 Cell Line | EDJ-KQ71454 | Human | 6540 | Details Get a Quote |
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