SLC1A2: Solute Carrier Family 1 Member 2 (Glial Glutamate Transporter)
Key regulator of glutamate homeostasis in the central nervous system; associated with neurodegenerative and psychiatric disorders.
Gene Information Card
| Symbol | SLC1A2 |
|---|---|
| Full Name | Solute Carrier Family 1 Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p13-p12 |
| NCBI Gene ID | 6506 ncbi.nlm.nih.gov/gene/6506 |
| Ensembl ID | ENSG00000110436 |
| UniProt ID | P43004 |
| OMIM ID | 600300 |
| HGNC ID | 10942 |
| Aliases | EAAT2, GLT-1, GLT1, HBGT |
Description
SLC1A2 encodes the excitatory amino acid transporter 2 (EAAT2), also known as GLT-1, a sodium-dependent glutamate transporter primarily expressed in astrocytes. It is responsible for clearing extracellular glutamate from the synaptic cleft, preventing excitotoxicity and maintaining glutamate homeostasis in the central nervous system. Loss of EAAT2 function is implicated in neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), Alzheimer disease, and epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | Reduced EAAT2 expression leads to glutamate accumulation and motor neuron excitotoxicity. | NCBI Gene, OMIM |
| Epilepsy | Impaired glutamate clearance contributes to seizure susceptibility and neuronal hyperexcitability. | NCBI Gene, ClinVar |
| Schizophrenia | Altered EAAT2 expression and splicing variants associated with glutamatergic dysfunction. | NCBI Gene, OMIM |
| Alzheimer Disease | Decreased EAAT2 levels correlate with synaptic loss and cognitive decline. | NCBI Gene |
| Hepatic Encephalopathy | Elevated ammonia downregulates EAAT2, contributing to brain edema and neurotoxicity. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 48.2 | High |
| Spinal Cord | 35.1 | High |
| Retina | 22.4 | Medium |
| Heart | 1.2 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Astrocytes (primary) | 62.5 | Highest expression; main site of EAAT2 |
| SH-SY5Y (neuroblastoma) | 8.7 | Moderate expression |
| U-87 MG (glioblastoma) | 15.3 | Moderate expression |
| HEK293 | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1285C>T (p.Arg429Cys) | Missense | <0.01% | Reduced glutamate uptake; associated with ALS |
| c.154G>A (p.Gly52Arg) | Missense | <0.01% | Impaired trafficking to cell membrane; loss of function |
| c.1688G>A (p.Arg563Gln) | Missense | <0.01% | Decreased transport activity; reported in epilepsy |
| c.1123A>G (p.Thr375Ala) | Missense | <0.01% | Altered substrate affinity; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg429Cys, p.Gly52Arg) reduce glutamate uptake capacity, leading to excitotoxicity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SLC1A2.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by impairing oligomerization and surface expression of wild-type EAAT2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glutamatergic synapse (KEGG: hsa04724)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• Alzheimer disease (KEGG: hsa05010)
• Amyotrophic lateral sclerosis (KEGG: hsa05014)
Protein Summary
EAAT2 (GLT-1) is a 574-amino acid transmembrane protein with 8-10 helical domains. It couples glutamate transport to the co-transport of three Na+ and one H+ ions, and counter-transport of one K+ ion. The protein forms homotrimers and is localized to astrocytic processes surrounding synapses. Its C-terminal domain is critical for trafficking and surface expression. Post-translational modifications include glycosylation and phosphorylation, which modulate activity and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC1A2 Knockout HEK293 Cell Line | EDJ-KQ2658 | Human | 6506 | Details Get a Quote |
| SLC1A2 Knockout HeLa Cell Line | EDJ-KQ54478 | Human | 6506 | Details Get a Quote |
| SLC1A2 Knockout A-549 Cell Line | EDJ-KQ62964 | Human | 6506 | Details Get a Quote |
| SLC1A2 Knockout HCT 116 Cell Line | EDJ-KQ71436 | Human | 6506 | Details Get a Quote |
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