B2M - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
B2M
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-malladiCombinedGeneticInactivationa]
History
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timeline
title Publication timing
2011-07-27 : Morin : DLBCL
2012-03-06 : Lohr : DLBCL
2013-01-01 : Zhang : DLBCL
2013-08-15 : Morin : DLBCL
2015-02-12 : Reichel : PMBL
2017-05-01 : Albuquerque : DLBCL
2017-10-10 : Reddy : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
2020-07-30 : Pararajalingam : MCL
2021-05-05 : Hubschmann : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1-EE | high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015a] |
 |
1-EE | 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)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 2.31 |
| BL | Thomas cohort | 2.50 |
| BL | Panea cohort | 3.00 |
| DLBCL | GAMBL genomes | 15.11 |
| DLBCL | Schmitz cohort | 15.53 |
| DLBCL | Reddy cohort | 12.11 |
| DLBCL | Chapuy cohort | 11.97 |
| FL | GAMBL genomes | 8.55 |
| MCL | GAMBL genomes | 1.42 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 9.379 | 56.571 |
| DLBCL | No | Yes | 60.843 | 340.788 |
| FL | No | Yes | 54.190 | 326.834 |
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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
B2M Expression
