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

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2011-07-27 : Morin : FL 2015-02-12 : Reichel : PMBL 2020-07-30 : Pararajalingam : MCL

Relevance tier by entity

Entity Tier Description
PMBL 1-EE high-confidence PMBL/cHL/GZL genereichelFlowSortingExome2015a?
DLBCL 1-EE high-confidence DLBCL gene1
FL 1 high-confidence FL gene1
MCL 2 relevance in MCL not firmly established2

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

References

1.
Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJM, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298–303. PMCID: PMC3210554
2.
Pararajalingam P, Coyle KM, Arthur SE, Thomas N, Alcaide M, Meissner B, Boyle M, Qureshi Q, Grande BM, Rushton C, Slack GW, Mungall AJ, Tam CS, Agarwal R, Dawson SJ, Lenz G, Balasubramanian S, Gascoyne RD, Steidl C, Connors J, Villa D, Audas TE, Marra MA, Johnson NA, Scott DW, Morin RD. Coding and noncoding drivers of mantle cell lymphoma identified through exome and genome sequencing. Blood. 2020 Jul 30;136(5):572–584. PMCID: PMC7440974

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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