The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]
Transcription factors with Perturb-seq knockdown data for GRID2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = GRID2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of GRID2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr4:91,127,780–91,128,807 | 1175.8 kb | Distal (>10kb) Multiome HiCAR | 111 | |
| chr4:92,012,908–92,014,031 | 290.4 kb | Distal (>10kb) Multiome | 249 | |
| chr4:92,252,855–92,255,716 | 48.9 kb | Distal (>10kb) Multiome | 299 | |
| chr4:92,255,961–92,257,467 | 47.4 kb | Distal (>10kb) Multiome | 302 | |
| chr4:92,276,796–92,277,904 | 26.5 kb | Distal (>10kb) Multiome | 174 | |
| chr4:92,303,594–92,304,497 | 90 bp | At TSS Multiome | 190 | |
| chr4:92,304,776–92,306,402 | 1.7 kb | Proximal (<10kb) Multiome | 370 | |
| chr4:92,433,090–92,433,831 | 129.6 kb | Distal (>10kb) Multiome | 108 | |
| chr4:92,438,845–92,439,507 | 135.2 kb | Distal (>10kb) Multiome | 90 | |
| chr4:92,443,611–92,444,707 | 140.4 kb | Distal (>10kb) Multiome | 153 | |
| chr4:92,520,410–92,520,980 | 216.7 kb | Distal (>10kb) Multiome | 189 | |
| chr4:92,521,615–92,522,756 | 218.2 kb | Distal (>10kb) Multiome | 57 |
Genomic view of the GRID2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.