KLF2

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @jalladesExomeSequencingIdentifies2017, @deschGenotypingCirculatingTumor2020, @pasqualucciAnalysisCodingGenome2011,

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Overview

KLF2 (Kruppel-like factor 2) is a transcription factor involved in the regulation of various cellular processes, including apoptosis, proliferation, and differentiation. Mutations in KLF2 have been identified in various B-cell lymphomas including DLBCL.[@pasqualucciAnalysisCodingGenome2011]> KLF2 mutations are among the most common mutations in splenic marginal zone lymphoma (SMZL).[@jalladesExomeSequencingIdentifies2017] KLF2 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.[@pasqualucciAnalysisCodingGenome2011] KLF2 mutations have been shown to impair the ability of KLF2 to suppress NF-κB activation by TLR, BCR, BAFFR, and TNFR signaling, thereby promoting lymphomagenesis. This implicates KLF2 as a tumor suppressor in B-cell lymphomas.[@jalladesExomeSequencingIdentifies2017] Contradictory to this, the mutation pattern in DLBCL implies selective pressure to retain a full-length protein.

Relevance tier by entity

include:tables/table1_KLF2.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_KLF2.md

FL

include:tables/FL_KLF2.md

Mutation pattern and selective pressure estimates

include:tables/dnds_KLF2.md

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr19	16434978	16439011	TSS	intron

KLF2 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr19	16436719	G>C	K256N
chr19	16436723	A>G	K258E
chr19	16436726	C>G	R259G
chr19	16436726	C>T	R259C
chr19	16436755	CA>TC	T269P
chr19	16436769	C>T	T273I
chr19	16436772	G>A	C274Y
chr19	16436775	G>A	S275N
chr19	16436775	G>C	S275T
chr19	16436784	G>A	G278D

include:tables/browser_KLF2.md

Expression

include:tables/mermaid_KLF2.md

References