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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC6A11
solute carrier family 6 member 11
Chromosome 3 · 3p25.3
NCBI Gene: 6538Ensembl: ENSG00000132164.11HGNC: HGNC:11044UniProt: P48066
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
gamma-aminobutyric acid:sodium:chloride symporter activitymonocarboxylic acid transportmonocarboxylic acid transmembrane transporter activityplasma membranealcohol drinkingocular hypotensionimmune system diseaseAbruptio Placentae
✦AI Summary

SLC6A11 encodes GAT-3 (GABA transporter 3), a sodium- and chloride-dependent transporter mediating GABA reuptake from the synaptic cleft 1. The transporter operates with a 3 Na+:1 Cl-:1 GABA coupling stoichiometry and maintains GABA homeostasis in the central nervous system 2. SLC6A11 is expressed in astrocytes and other neural tissue, contributing to both synaptic and extrasynaptic GABA regulation 3. Dysfunction of SLC6A11 is implicated in multiple neurological disorders. Haploinsufficient deletions of SLC6A11 in 3p- syndrome cause epilepsy with characteristic EEG abnormalities, including myoclonic or absence seizures with generalized high-amplitude slow waves 4. The therapeutic agent 4-phenylbutyrate (PBA) restored GABA uptake and reduced seizure burden in patients with SLC6A11 deletions 5. Genetic variants (rs2304725) increase epilepsy susceptibility 3-fold and are associated with drug-resistant epilepsy 6. Additionally, SLC6A11 polymorphisms contribute to tardive dyskinesia risk in schizophrenic patients through GABAergic pathway dysfunction 7. These findings establish SLC6A11 as a critical regulator of GABAergic neurotransmission and a promising therapeutic target for seizure disorders and movement complications.

Sources cited
1
SLC6A11 mediates sodium- and chloride-dependent transport of GABA
PMID: 7874447
2
GABA transporters including SLC6A11 operate with 3 Na+:1 Cl-:1 GABA stoichiometry
PMID: 28828607
3
SLC6A11 (GAT-3) is a neuronal and glial GABA transporter maintaining CNS GABA homeostasis
PMID: 37123280
4
SLC6A11 deletions in 3p-syndrome cause epilepsy with myoclonic/absence seizures and characteristic EEG patterns
PMID: 40517887
5
4-phenylbutyrate restored GABA uptake and reduced seizures in SLC6A11 deletion patients
PMID: 39923323
6
SLC6A11 rs2304725 variant increases epilepsy risk 3-fold and is associated with drug-resistant epilepsy
PMID: 41410815
7
SLC6A11 polymorphisms are associated with tardive dyskinesia susceptibility through GABA pathway dysfunction
PMID: 23795861
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.30Weak
ocular hypotensionOpen Targets
0.29Weak
immune system diseaseOpen Targets
0.29Weak
Abruptio PlacentaeOpen Targets
0.26Weak
Increased overbiteOpen Targets
0.23Weak
muscular diseaseOpen Targets
0.23Weak
acquired thrombocytopeniaOpen Targets
0.22Weak
neurodegenerative diseaseOpen Targets
0.20Weak
diabetes mellitusOpen Targets
0.18Weak
liver diseaseOpen Targets
0.17Weak
systemic inflammatory response syndromeOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.06Suggestive
cervicitisOpen Targets
0.05Suggestive
poisoningOpen Targets
0.04Suggestive
depressive disorderOpen Targets
0.04Suggestive
metabolic diseaseOpen Targets
0.03Suggestive
Barrett's esophagusOpen Targets
0.03Suggestive
esophageal adenocarcinomaOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
insomniaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GABRDProtein interaction76%MBNL1Protein interaction76%TTPAProtein interaction76%GABRA5Protein interaction75%TWNKProtein interaction74%SLC6A13Protein interaction73%
Tissue Expression6 tissues
Brain
100%
Liver
1%
Ovary
1%
Lung
1%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SLC6A11GABRDMBNL1TTPAGABRA5TWNKSLC6A13
PROTEIN STRUCTURE
Preparing viewer…
PDB9CP4 · 3.42 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.85Intermediate
Observed/Expected LoF0.37 [0.27–0.53]
RankingsWhere SLC6A11 stands among ~20K protein-coding genes
  • #12,883of 20,598
    Most Researched26
  • #3,353of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedSLC6A11
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
4-Phenylbutyrate restored GABA uptake, mitigated seizures in SLC6A1 and SLC6A11 microdeletions/3p- syndrome: From cellular models to human patients.
PMID: 39923323
Epilepsy Res · 2025
1.00
2
New Transgenic Mouse Lines for Selectively Targeting Astrocytes and Studying Calcium Signals in Astrocyte Processes In Situ and In Vivo.
PMID: 27939582
Neuron · 2016
0.90
3
Whole-genome sequencing analysis of clozapine-induced myocarditis.
PMID: 35461379
Pharmacogenomics J · 2022
0.80
4
A comparative review on the well-studied GAT1 and the understudied BGT-1 in the brain.
PMID: 37123280
Front Physiol · 2023
0.70
5
Revised Ion/Substrate Coupling Stoichiometry of GABA Transporters.
PMID: 28828607
Adv Neurobiol · 2017
0.60