GNAI2
Mutations in the GNAI2 gene, which encodes the G protein alpha subunit involved in signal transduction, have been identified as significant contributors to the pathogenesis of B-cell lymphomas, including BL, DLBCL and, to a lesser extent, FL.1 Mutations in GNAI2, along with GNA13 and other small GTPases, affect the signaling pathways that regulate B-cell homing. These mutations are thought to cause aberrant localization and function of B-cells within lymphoid tissues.1 The functional role of these mutations has not been studied as extensively as those in GNA13 and further work is needed to elucidate the specific role of these mutations in lymphomagenesis.
Mutations were first described in DLBCL in 2013 by Morin et al1 and in BL in 2019 by Grande et al.2
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timeline
title Publication timing
2013-08-15 : Morin : DLBCL
2019-03-21 : Grande : BL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence BL gene [@grandeGenomewideDiscoverySomatic2019] |
 |
1 | high-confidence DLBCL gene[@morinMutationalStructuralAnalysis2013] |
 |
1 | high-confidence FL gene |
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 11.32 |
| BL | Thomas cohort | 9.70 |
| BL | Panea cohort | 8.90 |
| DLBCL | GAMBL genomes | 5.35 |
| DLBCL | Schmitz cohort | 6.38 |
| DLBCL | Reddy cohort | 1.90 |
| DLBCL | Chapuy cohort | 3.85 |
| FL | GAMBL genomes | 4.16 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | Yes | 18.304 | 0.000 |
| DLBCL | No | Yes | 32.161 | 57.623 |
| FL | No | Yes | 55.205 | 0.000 |
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr3 | 50289532 | G>A | G40D |
| chr3 | 50289546 | G>T | G45W |
| chr3 | 50289547 | G>A | G45E |
| chr3 | 50289553 | G>A | S47N |
| chr3 | 50289554 | C>G | S47R |
| chr3 | 50289555 | A>C | T48P |
| chr3 | 50289568 | A>G | Q52R |
| chr3 | 50293686 | T>G | L176R |
| chr3 | 50293695 | G>A | R179H |
| chr3 | 50293698 | T>A | V180E |
| chr3 | 50293703 | A>G | T182A |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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