GNAI2

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

[[TOC]]

Overview

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.[@grandeGenomewideDiscoverySomatic2019] 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.[@grandeGenomewideDiscoverySomatic2019] 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 al[@morinMutationalStructuralAnalysis2013] and in BL in 2019 by Grande et al.[@grandeGenomewideDiscoverySomatic2019]

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence BL gene [@grandeGenomewideDiscoverySomatic2019]
	1	high-confidence DLBCL gene[@morinMutationalStructuralAnalysis2013]
	1	high-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

include:DLBCL_GNAI2.md include:FL_GNAI2.md include:BL_GNAI2.md

Mutation pattern and selective pressure estimates

include:dnds_GNAI2.md

GNAI2 Hotspots

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

include:browser_GNAI2.md

Expression

include:mermaid_GNAI2.md

References