GRIP2
Chr 3glutamate receptor interacting protein 2
Also known as: ABP
The protein functions as a scaffolding molecule that binds glutamate receptors and mediates their transport and clustering at synapses, particularly involved in AMPA receptor trafficking to the postsynaptic membrane. Mutations in this gene cause autosomal recessive intellectual disability with seizures and language delay, typically presenting in early childhood. The disorder primarily affects the central nervous system with core features of developmental delay, epilepsy, and speech impairment.
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is gain-of-function.
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.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GRIP2 · 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