KLHL14.md
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# KLHL14
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+## Overview
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+KLHL14 (Kelch-like family member 14) is a gene that has been identified as playing a role in B-cell lymphomas, particularly diffuse large B-cell lymphoma (DLBCL).<sup>1</sup> KLHL14 has been identified as a recurrent target of somatic mutations in ABC DLBCLs. These mutations are a feature of the MCD genetic subgroup of DLBCL. The gene encodes a protein involved in the ubiquitin-proteasome system, and its inactivation leads to increased cell proliferation and survival, suggesting its role as a tumor suppressor.<>2<> KLHL14 loss has been shown to BCR-dependent NF-κB activation and cell survival in DLBCL.<sup>2</sup> This gene has some mutation hotspots but the patter of mutation overall is consistent with its role as a tumor suppressor gene.
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## Relevance tier by entity
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KLHL14.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KLHL14_hg38.html)
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![image](images/proteinpaint/KLHL14.svg)
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+
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+## References
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+1. *Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. Proc Natl Acad Sci U S A. 2013 Jan 22;110(4):1398-403. doi: 10.1073/pnas.1205299110. Epub 2013 Jan 4. PMID: 23292937; PMCID: PMC3557051.*
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+2. *Choi J, Phelan JD, Wright GW, Häupl B, Huang DW, Shaffer AL 3rd, Young RM, Wang Z, Zhao H, Yu X, Oellerich T, Staudt LM. Regulation of B cell receptor-dependent NF-κB signaling by the tumor suppressor KLHL14. Proc Natl Acad Sci U S A. 2020 Mar 17;117(11):6092-6102. doi: 10.1073/pnas.1921187117. Epub 2020 Mar 3. PMID: 32127472; PMCID: PMC7084139.*
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