GRIA3

Chr XXLR

glutamate ionotropic receptor AMPA type subunit 3

Also known as: GLUR-C, GLUR-K3, GLUR3, GLURC, GluA3, MRX94, MRXSW, iGluR3

The protein functions as an AMPA-sensitive glutamate receptor subunit that forms ligand-gated ion channels mediating excitatory neurotransmission in the brain. Mutations cause X-linked syndromic intellectual developmental disorder (Wu type) through an X-linked recessive inheritance pattern. The high constraint scores (pLI 0.999, LOEUF 0.193) indicate that pathogenic variants likely cause disease through loss of function of this essential glutamate receptor subunit.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismXLRLOEUF 0.191 OMIM phenotype
Clinical SummaryGRIA3
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Gene-Disease Validity (ClinGen)
X-linked complex neurodevelopmental disorder · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint
0.19LOEUF
pLI 1.000
Z-score 4.97
OE 0.06 (0.020.19)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
4.23Z-score
OE missense 0.37 (0.320.42)
130 obs / 353.7 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.06 (0.020.19)
00.351.4
Missense OE0.37 (0.320.42)
00.61.4
Synonymous OE0.97
01.21.6
LoF obs/exp: 2 / 32.6Missense obs/exp: 130 / 353.7Syn Z: 0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GRIA3 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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