SLC1A2

Chr 11p13

solute carrier family 1 member 2

Aliases:: GLT-1, GLT1, EAAT2, HBGT
MANE:: ENST00000278379.9

OMIM: 600300 ↗NCBI: 6506 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SLC1A2 · P43004

v62025-08-01

Predicted Aligned Error matrix for SLC1A2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.8/ 100

Confident

574 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)26%
Low(50–70)11%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

developmental and epileptic encephalopathy, 41
0.76
Epileptic encephalopathy
0.51
type 2 diabetes mellitus
0.49
hypothyroidism
0.46
neurodegenerative disease
0.45
thyroid gland disorder
0.42
undetermined early-onset epileptic encephalopathy
0.38
myxedema
0.36
vitiligo
0.34
stroke disorder
0.32

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Excitatory amino acid transporter 2

Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:14506254, PubMed:15265858, PubMed:26690923, PubMed:7521911). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion (PubMed:14506254). Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:14506254). Essential for the rapid removal of released glutamate from the synaptic cleft, and for terminating the postsynaptic action of glutamate (By similarity)