GRIP2: Glutamate Receptor Interacting Protein 2
A scaffold protein in AMPA receptor trafficking and synaptic plasticity
Gene Information Card
| Symbol | GRIP2 |
|---|---|
| Full Name | Glutamate receptor interacting protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.1 |
| NCBI Gene ID | 80852 ncbi.nlm.nih.gov/gene/80852 |
| Ensembl ID | ENSG00000144554 |
| UniProt ID | Q9Y2R0 |
| OMIM ID | 608447 |
| HGNC ID | 17073 |
| Aliases | KIAA1719, GRIP2 |
Description
GRIP2 encodes glutamate receptor interacting protein 2, a scaffold protein that binds to the C-terminus of AMPA receptors and is involved in receptor trafficking, clustering, and synaptic plasticity. It contains multiple PDZ domains and is expressed predominantly in the brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of AMPA receptor trafficking due to GRIP2 mutations | ClinVar: pathogenic variants reported |
| Autism spectrum disorder | Altered synaptic scaffolding and glutamate signaling | ClinVar: association studies |
| Epilepsy | Impaired synaptic transmission and neuronal excitability | ClinVar: rare variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Lung | 1.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.7 | Neuronal model |
| HEK293 | 2.1 | Low expression |
| U-87 MG | 1.3 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function; premature stop |
| c.890A>G (p.Tyr297Cys) | Missense | Rare | Unknown effect; likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein and loss of PDZ domains
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • PDZ domain binding (GO:0030165) | • protein binding (GO:0005515) |
| • chemical synaptic transmission (GO:0007268) | • modulation of chemical synaptic transmission (GO:0050804) |
| • synapse (GO:0045202) |
Pathways
• AMPA receptor trafficking (Reactome: R-HSA-399719)
• Glutamate binding
• activation of AMPA receptors and synaptic plasticity (Reactome: R-HSA-399721)
Protein Summary
GRIP2 is a 1118-amino acid scaffold protein with 7 PDZ domains. It interacts with the GluA2 subunit of AMPA receptors and other synaptic proteins, regulating receptor surface expression and synaptic strength. It is highly expressed in the brain and plays a role in learning and memory.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRIP2 Knockout HEK293 Cell Line | EDJ-KQ9589 | Human | 80852 | Details Get a Quote |
| GRIP2 Knockout HeLa Cell Line | EDJ-KQ57356 | Human | 80852 | Details Get a Quote |
| GRIP2 Knockout A-549 Cell Line | EDJ-KQ65861 | Human | 80852 | Details Get a Quote |
| GRIP2 Knockout HCT 116 Cell Line | EDJ-KQ74287 | Human | 80852 | Details Get a Quote |
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