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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for GRIA2 |
 Gene summary |
| Gene information | Gene symbol | GRIA2 | Gene ID | 2891 |
| Gene name | glutamate ionotropic receptor AMPA type subunit 2 | |
| Synonyms | GLUR2|GLURB|GluA2|GluR-K2|HBGR2|gluR-2|gluR-B | |
| Cytomap | 4q32.1 | |
| Type of gene | protein-coding | |
| Description | glutamate receptor 2AMPA-selective glutamate receptor 2glutamate receptor B flip isoformglutamate receptor, ionotropic, AMPA 2 | |
| Modification date | 20200329 | |
| UniProtAcc | D6R9Z0, | |
| Context | - 29426890(Guanosine monophosphate reductase 1 is a potential therapeutic target for Alzheimer's disease) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| GRIA2 | GO:0035235 | ionotropic glutamate receptor signaling pathway | 20614889 |
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Gene structures and expression levels for GRIA2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000120251
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | DOWN | ENST00000503980.1 | GRIA2-207:retained_intron:GRIA2 | 9.431358e+01 | -9.045944e-01 | 1.153482e-10 | 7.360956e-08 |
| CB | UP | ENST00000505888.1 | GRIA2-209:protein_coding:GRIA2 | 5.780181e+00 | 9.854159e-01 | 1.017111e-05 | 1.069270e-04 |
| CB | UP | ENST00000264426.13 | GRIA2-201:protein_coding:GRIA2 | 3.555758e+02 | 9.332648e-01 | 2.197463e-05 | 2.049415e-04 |
| CB | UP | ENST00000507898.5 | GRIA2-211:protein_coding:GRIA2 | 6.304956e+00 | 1.048754e+00 | 2.456911e-05 | 2.252805e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GRIA2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_11091 | chr4 | 157335671:157335877:157336377:157336747:157341264:157341462 | 157336377:157336747 |
| exon_skip_118877 | chr4 | 157361010:157361124:157362799:157362933:157363435:157363551 | 157362799:157362933 |
| exon_skip_155668 | chr4 | 157219903:157220144:157220908:157221130:157221667:157221723 | 157220908:157221130 |
| exon_skip_161059 | chr4 | 157359896:157360143:157361010:157361124:157362799:157362821 | 157361010:157361124 |
| exon_skip_161885 | chr4 | 157359896:157360143:157361538:157361652:157362799:157362821 | 157361538:157361652 |
| exon_skip_171991 | chr4 | 157361010:157361124:157361538:157361652:157362799:157362818 | 157361538:157361652 |
| exon_skip_200353 | chr4 | 157360100:157360143:157360709:157360749:157361010:157361124 | 157360709:157360749 |
| exon_skip_205359 | chr4 | 157359896:157360143:157360709:157360749:157361010:157361124 | 157360709:157360749 |
| exon_skip_225772 | chr4 | 157220691:157220725:157220908:157221130:157221667:157221723 | 157220908:157221130 |
| exon_skip_259317 | chr4 | 157312679:157312875:157317658:157317711:157321438:157321599 | 157317658:157317711 |
| exon_skip_262197 | chr4 | 157361010:157361124:157362799:157363047:157363435:157363684 | 157362799:157363047 |
| exon_skip_268972 | chr4 | 157312818:157312875:157317658:157317711:157321438:157321599 | 157317658:157317711 |
| exon_skip_276741 | chr4 | 157221667:157221807:157303552:157303791:157312679:157312786 | 157303552:157303791 |
| exon_skip_291330 | chr4 | 157361010:157361124:157362799:157362933:157363435:157363684 | 157362799:157362933 |
| exon_skip_34540 | chr4 | 157361010:157361124:157361538:157361652:157362799:157362821 | 157361538:157361652 |
| exon_skip_63256 | chr4 | 157332819:157332986:157333249:157333353:157334010:157334120 | 157333249:157333353 |
| exon_skip_81455 | chr4 | 157361538:157361652:157362799:157363047:157363435:157363551 | 157362799:157363047 |
| exon_skip_90221 | chr4 | 157359912:157360143:157360709:157360749:157361010:157361124 | 157360709:157360749 |
| exon_skip_9672 | chr4 | 157361010:157361124:157362799:157363047:157363435:157363551 | 157362799:157363047 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for GRIA2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000264426 | 157361010 | 157361124 | Frame-shift |
| ENST00000264426 | 157317658 | 157317711 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000264426 | 157362799 | 157363047 | 3UTR-3CDS |
| ENST00000264426 | 157336377 | 157336747 | Frame-shift |
| ENST00000264426 | 157361010 | 157361124 | Frame-shift |
| ENST00000264426 | 157303552 | 157303791 | In-frame |
| ENST00000264426 | 157317658 | 157317711 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000264426 | 157362799 | 157363047 | 3UTR-3CDS |
| ENST00000264426 | 157336377 | 157336747 | Frame-shift |
| ENST00000264426 | 157361010 | 157361124 | Frame-shift |
| ENST00000264426 | 157303552 | 157303791 | In-frame |
| ENST00000264426 | 157317658 | 157317711 | In-frame |
| ENST00000264426 | 157333249 | 157333353 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GRIA2 |
p-ENSG00000120251_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000264426 | 3462 | 883 | 157317658 | 157317711 | 947 | 999 | 222 | 240 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000264426 | 3462 | 883 | 157303552 | 157303791 | 510 | 748 | 77 | 156 |
| ENST00000264426 | 3462 | 883 | 157317658 | 157317711 | 947 | 999 | 222 | 240 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000264426 | 3462 | 883 | 157303552 | 157303791 | 510 | 748 | 77 | 156 |
| ENST00000264426 | 3462 | 883 | 157317658 | 157317711 | 947 | 999 | 222 | 240 |
| ENST00000264426 | 3462 | 883 | 157333249 | 157333353 | 1331 | 1434 | 350 | 385 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P42262 | 222 | 240 | 234 | 237 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 239 | 241 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 25 | 883 | Chain | ID=PRO_0000011532;Note=Glutamate receptor 2 |
| P42262 | 222 | 240 | 78 | 330 | Disulfide bond | . |
| P42262 | 222 | 240 | 213 | 225 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 230 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 25 | 543 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P42262 | 77 | 156 | 88 | 90 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 111 | 113 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 125 | 127 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 147 | 152 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 25 | 883 | Chain | ID=PRO_0000011532;Note=Glutamate receptor 2 |
| P42262 | 77 | 156 | 78 | 330 | Disulfide bond | . |
| P42262 | 77 | 156 | 70 | 83 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 97 | 107 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 133 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 140 | 140 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P42262 | 77 | 156 | 25 | 543 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42262 | 77 | 156 | 94 | 96 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 234 | 237 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 239 | 241 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 25 | 883 | Chain | ID=PRO_0000011532;Note=Glutamate receptor 2 |
| P42262 | 222 | 240 | 78 | 330 | Disulfide bond | . |
| P42262 | 222 | 240 | 213 | 225 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 230 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 25 | 543 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P42262 | 77 | 156 | 88 | 90 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 111 | 113 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 125 | 127 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 147 | 152 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 25 | 883 | Chain | ID=PRO_0000011532;Note=Glutamate receptor 2 |
| P42262 | 77 | 156 | 78 | 330 | Disulfide bond | . |
| P42262 | 77 | 156 | 70 | 83 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 97 | 107 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 133 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 77 | 156 | 140 | 140 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P42262 | 77 | 156 | 25 | 543 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42262 | 77 | 156 | 94 | 96 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 234 | 237 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 239 | 241 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 25 | 883 | Chain | ID=PRO_0000011532;Note=Glutamate receptor 2 |
| P42262 | 222 | 240 | 78 | 330 | Disulfide bond | . |
| P42262 | 222 | 240 | 213 | 225 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 230 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 25 | 543 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42262 | 350 | 385 | 353 | 355 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 350 | 385 | 358 | 360 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 350 | 385 | 366 | 368 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 350 | 385 | 373 | 379 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 350 | 385 | 382 | 390 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 350 | 385 | 25 | 883 | Chain | ID=PRO_0000011532;Note=Glutamate receptor 2 |
| P42262 | 350 | 385 | 370 | 370 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19651138;Dbxref=PMID:19651138 |
| P42262 | 350 | 385 | 25 | 543 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GRIA2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for GRIA2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for GRIA2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| ADstage | MSBB | IFG | exon_skip_34540 | 4.302932e-01 | 2.227757e-02 | chr4 | + | 157361010 | 157361124 | 157361538 | 157361652 | 157362799 | 157362821 |
| ADstage | MSBB | IFG | exon_skip_103848 | 3.774233e-01 | 4.770297e-02 | chr4 | + | 157359896 | 157360143 | 157361010 | 157361124 | 157361538 | 157361652 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRIA2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for GRIA2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_34540 | -4.550574e-01 | 1.678642e-09 |
| CB | MATR3 | exon_skip_34540 | -5.087641e-01 | 7.539231e-12 |
| CB | PCBP1 | exon_skip_34540 | -5.342928e-01 | 4.070010e-13 |
| CB | ILF2 | exon_skip_34540 | -4.529364e-01 | 2.039747e-09 |
| CB | PCBP2 | exon_skip_34540 | -4.948107e-01 | 3.364900e-11 |
| CB | KHDRBS3 | exon_skip_34540 | -4.833737e-01 | 1.091436e-10 |
| CB | HNRNPL | exon_skip_34540 | -5.598856e-01 | 1.686881e-14 |
| CB | EIF4B | exon_skip_34540 | -4.983793e-01 | 2.309999e-11 |
| IFG | IGF2BP3 | exon_skip_103848 | 4.164204e-01 | 2.750703e-02 |
| IFG | ZC3H10 | exon_skip_103848 | 4.439352e-01 | 1.795756e-02 |
| IFG | IGF2BP3 | exon_skip_34540 | 6.544575e-01 | 1.579945e-04 |
| IFG | KHDRBS3 | exon_skip_34540 | -4.112757e-01 | 2.968281e-02 |
| PCC | KHDRBS2 | exon_skip_256974 | 4.193831e-01 | 2.140211e-10 |
| TC | MATR3 | exon_skip_34540 | -6.297765e-01 | 9.969181e-19 |
| TC | ILF2 | exon_skip_34540 | -5.402697e-01 | 2.816646e-13 |
| TC | KHDRBS2 | exon_skip_34540 | -6.803485e-01 | 1.124823e-22 |
| TC | KHDRBS3 | exon_skip_34540 | -6.855136e-01 | 4.007583e-23 |
| TC | NUP42 | exon_skip_34540 | -5.967233e-01 | 1.621711e-16 |
| TC | SRSF9 | exon_skip_34540 | -4.035125e-01 | 1.604575e-07 |
| TC | ESRP1 | exon_skip_34540 | -5.776894e-01 | 2.355931e-15 |
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RelatedDrugs for GRIA2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P42262 | approved|nutraceutical | DB00142 | Glutamic Acid | small molecule | P42262 |
| P42262 | approved|illicit | DB00241 | Butalbital | small molecule | P42262 |
| P42262 | approved|illicit | DB00306 | Talbutal | small molecule | P42262 |
| P42262 | approved|investigational|vet_approved | DB00312 | Pentobarbital | small molecule | P42262 |
| P42262 | approved|vet_approved | DB00418 | Secobarbital | small molecule | P42262 |
| P42262 | approved|vet_approved | DB00599 | Thiopental | small molecule | P42262 |
| P42262 | approved|vet_approved | DB00794 | Primidone | small molecule | P42262 |
| P42262 | approved | DB00849 | Methylphenobarbital | small molecule | P42262 |
| P42262 | approved | DB00898 | Ethanol | small molecule | P42262 |
| P42262 | approved|investigational | DB01174 | Phenobarbital | small molecule | P42262 |
| P42262 | approved|illicit | DB01351 | Amobarbital | small molecule | P42262 |
| P42262 | approved|illicit | DB01353 | Butobarbital | small molecule | P42262 |
| P42262 | approved | DB13146 | Fluciclovine (18F) | small molecule | P42262 |
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RelatedDiseases for GRIA2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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