GRID2IP
Glutamate Ionotropic Receptor Delta Type Subunit 2 Interacting Protein
Gene Information Card
| Symbol | GRID2IP |
|---|---|
| Full Name | Glutamate Ionotropic Receptor Delta Type Subunit 2 Interacting Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000106462 |
| UniProt ID | Q9Y2X7 |
| OMIM ID | 608311 |
| HGNC ID | 17023 |
| Aliases | Delphilin, KIAA1165 |
Description
GRID2IP encodes a protein that interacts with the glutamate receptor delta-2 subunit (GRID2). It is involved in synaptic organization and cerebellar function. The protein contains a PDZ domain and is thought to anchor receptors at the postsynaptic membrane.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered synaptic scaffolding may disrupt glutamatergic signaling | ClinVar: association reported in some studies |
| Cerebellar ataxia | Impaired GRID2IP function may affect Purkinje cell synapse stability | OMIM: 608311 related phenotypes |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | Medium |
| Cerebral cortex | 5.2 | Low |
| Testis | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 2.8 | Neuroblastoma cell line |
| HEK293 | 1.5 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | p.Arg412Cys; potential loss of interaction with GRID2 |
| c.567delA | Frameshift | <0.001% | Predicted protein truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely cause loss of function by truncating the PDZ domain.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may act dominant-negative by disrupting GRID2 binding.
View complete mutation data：
Gene Ontology (GO)
| • synapse organization | • protein binding |
| • PDZ domain binding | • glutamate receptor binding |
Pathways
• Glutamatergic synapse
• Long-term depression
Protein Summary
GRID2IP (Delphilin) is a 120 kDa protein with a PDZ domain that directly binds the C-terminus of GRID2. It localizes to parallel fiber-Purkinje cell synapses and is essential for cerebellar long-term depression and motor learning.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRID2IP Knockout HEK293 Cell Line | EDJ-KQ13685 | Human | 392862 | Details Get a Quote |
| GRID2IP Knockout HeLa Cell Line | EDJ-KQ60239 | Human | 392862 | Details Get a Quote |
| GRID2IP Knockout A-549 Cell Line | EDJ-KQ68700 | Human | 392862 | Details Get a Quote |
| GRID2IP Knockout HCT 116 Cell Line | EDJ-KQ77067 | Human | 392862 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
