GRIK3
Chr 1glutamate ionotropic receptor kainate type subunit 3
Also known as: EAA5, GLR7, GLUR7, GluK3, GluR7a
The protein functions as an ionotropic glutamate receptor that forms cation-permeable ligand-gated ion channels activated by glutamate and kainic acid, converting chemical signals to electrical impulses in excitatory neurotransmission. GRIK3 is highly constrained against loss-of-function mutations (pLI=1.0, LOEUF=0.19), suggesting that mutations would likely cause severe developmental disorders, though specific disease associations have not yet been established in the literature. The gene has been associated with neuropsychiatric conditions including schizophrenia in population studies.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and gain-of-function). The Badonyi & Marsh model scores gain-of-function highest among its predictions, but genomic evidence (constraint, ClinVar variant spectrum, and literature) most strongly supports loss-of-function (haploinsufficiency). Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GRIK3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools