B2M

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

[[TOC]]

Overview

The B2M (β2-microglobulin) gene plays a crucial role in the function of the major histocompatibility complex (MHC) class I molecules, which are essential for immune system recognition of infected or malignant cells.

Experimental Evidence

B2M mutations in B-cell lymphomas, particularly in DLBCL and PMBCL, lead to reduced MHC class I expression, enabling tumor cells to evade immune detection and destruction by cytotoxic T cells. This is often accompanied by mutations in the β2-Microglobulin gene, which further aids in immune evasion.[@challa-malladiCombinedGeneticInactivation2011]

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015]
	1	high-confidence DLBCL gene[@morinFrequentMutationHistonemodifying2011]
	1	high-confidence FL gene[@morinFrequentMutationHistonemodifying2011]
	2	relevance in MCL not firmly established[@pararajalingamCodingNoncodingDrivers2020]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

include:DLBCL_B2M.md include:FL_B2M.md

Mutation pattern and selective pressure estimates

include:dnds_B2M.md

B2M Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr15	45003745	A>G	M1?
chr15	45003745	A>T	M1?
chr15	45003745	AGATGTCT>-	NA
chr15	45003746	T>A	M1?
chr15	45003746	T>C	M1?
chr15	45003746	T>G	M1?
chr15	45003747	G>A	M1?
chr15	45003747	G>C	M1?
chr15	45003758	T>A	V5E
chr15	45003761	C>A	A6D
chr15	45003764	T>C	L7S
chr15	45003764	T>G	L7*
chr15	45003766	G>C	A8P
chr15	45003767	C>A	A8D
chr15	45003770	T>A	V9E
chr15	45003770	T>G	V9G
chr15	45003779	T>A	L12Q
chr15	45003779	T>C	L12P
chr15	45003779	T>G	L12R
chr15	45003781	C>T	L13F
chr15	45003782	T>C	L13P

include:browser_B2M.md

Expression

include:mermaid_B2M.md

References