KLF2 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @jalladesExomeSequencingIdentifies2017, @deschGenotypingCirculatingTumor2020, @pasqualucciAnalysisCodingGenome2011,
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
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
Mutation pattern and selective pressure estimates
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