SLC1A2

Chr 11

solute carrier family 1 member 2

Also known as: DEE41, EAAT2, EIEE41, GLT-1, GLT1, HBGT

NCBI Gene: 6506ENSG00000110436UniProt: P43004

This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 41

Clinical highlights

Gene-disease validity (ClinGen)
developmental and epileptic encephalopathy, 41 · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Both gain of function and loss of function mechanisms are described for this gene and which one applies is variant-dependent. Do not assume a null variant is — or isn't — the pathogenic class without checking the specific variant against curated evidence.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
32
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.42
LOEUF
GOF/LOF*
Mechanism· annotated
📖
GeneReview available — SLC1A2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.42LOEUF
pLI 0.710
Z-score 3.51
OE 0.19 (0.09–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.28Z-score
OE missense 0.65 (0.58–0.73)
217 obs / 334.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.19 (0.09–0.42)
0≤0.351.4
Missense OE?0.65 (0.58–0.73)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 4 / 21.6Missense obs/exp: 217 / 334.6Syn Z: -0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC1A2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients