GRIA4

Chr 11q22.3

glutamate ionotropic receptor AMPA type subunit 4

Aliases:: GluA4, GLURD, GluR-4, GluR-D, GLUR4C
MANE:: ENST00000282499.10

OMIM: 138246 ↗NCBI: 2893 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GRIA4 · P48058

v62025-08-01

Predicted Aligned Error matrix for GRIA4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.8/ 100

Confident

902 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)35%
Low(50–70)8%
Very low(< 50)9%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with or without seizures and gait abnormalities
0.75
epilepsy
0.61
migraine disorder
0.59
alcohol dependence
0.57
Seizure
0.57
Lennox-Gastaut syndrome
0.54
focal epilepsy
0.45
Obesity
0.44
diabetic neuropathy
0.44
refractive error
0.41

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

Protein function (UniProt)

Glutamate receptor 4

Ionotropic glutamate receptor that functions as a ligand-gated cation channel, gated by L-glutamate and glutamatergic agonists such as alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), quisqualic acid, and kainic acid (By similarity). L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system and plays an important role in fast excitatory synaptic transmission (By similarity). Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse upon entry of monovalent and divalent cations such as sodium and calcium. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist (By similarity). In the presence of CACNG8, shows resensitization which is characterized by a delayed accumulation of current flux upon continued application of L-glutamate (PubMed:21172611)