ITPKB

Overview

The ITPKB gene encodes inositol-trisphosphate 3-kinase B, an enzyme involved in the regulation of intracellular calcium levels and PI3K/Akt signaling pathways. Mutations in ITPKB have been linked to various B-cell lymphomas, including DLBCL, PMBCL and, less commonly, FL.1 ITPKB is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. These mutations are associated with the BN2 genetic subgroup of DLBCL. The mutation pattern in ITPKB implies selection for loss-of-function mutations.

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2015-02-12 : Reichel : PMBL 2018-04-12 : Schmitz : DLBCL

Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene
DLBCL 1-a aSHM target and high-confidence DLBCL gene
FL 1-a aSHM target and high-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 6.69
DLBCL Schmitz cohort 6.81
DLBCL Reddy cohort 6.71
DLBCL Chapuy cohort 9.40
FL GAMBL genomes 3.23

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 0.587 0.000
DLBCL Yes Yes 4.294 15.744
FL Yes No 6.541 0.000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr1 226864857 226873452 intron weak_enhancer
chr1 226920563 226927885 TSS active_promoter
chr1 226921088 226927982 intron-1 enhancer

ITPKB Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr1 226925148 G>C Y4*
chr1 226925148 G>T Y4*

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

References

  1. Mareschal S, Dubois S, Viailly PJ, Bertrand P, Bohers E, Maingonnat C, Jaïs JP, Tesson B, Ruminy P, Peyrouze P, Copie-Bergman C, Fest T, Jo Molina T, Haioun C, Salles G, Tilly H, Lecroq T, Leroy K, Jardin F. Whole exome sequencing of relapsed/refractory patients expands the repertoire of somatic mutations in diffuse large B-cell lymphoma. Genes Chromosomes Cancer. 2016 Mar;55(3):251-67. doi: 10.1002/gcc.22328. Epub 2015 Nov 26. PMID: 26608593. ## ITPKB Expression

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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