KLHL6 (3q27.1) onkogeeni, tuumorisuppressiogeeni

https://www.ncbi.nlm.nih.gov/gene/89857

Summary: This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

Expression:Biased expression in lymph node (RPKM 24.5), appendix (RPKM 11.9) and 10 other tissues See more Orthologs mouse all

 

Related articles in PubMed

1. KLHL6 Is Preferentially Expressed in Germinal Center-Derived B-Cell Lymphomas. Kunder CA, et al. Am J Clin Pathol, 2017 Nov 20. PMID 29140403, Free PMC Article
2. Prognostic value of the cancer oncogene Kelch-like 6 in gastric cancer. Deng J, et al. Br J Surg, 2017 Dec. PMID 29044464
3. Genomic Profile of Chronic Lymphocytic Leukemia in Korea Identified by Targeted Sequencing. Kim JA, et al. PLoS One, 2016. PMID 27959900, Free PMC Article
4. The genetic landscape of dural marginal zone lymphomas. Ganapathi KA, et al. Oncotarget, 2016 Jul 12. PMID 27248180, Free PMC Article. The dura is a rare site of involvement by marginal zone lymphoma (MZL) and the biology of dural MZL is not well understood. We performed genome-wide DNA copy number and targeted mutational analysis of 14 dural MZL to determine the genetic landscape of this entity. Monoallelic and biallelic inactivation of TNFAIP3 by mutation (n=5) or loss (n=1) was observed in 6/9 (67%) dural MZL exhibiting plasmacytic differentiation, including 3 IgG4+ cases. In contrast, activating NOTCH2 mutations were detected in 4/5 (80%) dural MZL displaying variable monocytoid morphology. Inactivating TBL1XR1 mutations were identified in all NOTCH2 mutated cases. Recurrent mutations in KLHL6 (n=2) and MLL2 (n=2) were also detected. Gains at 6p25.3 (n=2) and losses at 1p36.32 (n=3) were common chromosomal imbalances, with loss of heterozygosity (LOH) of these loci observed in a subset of cases. Translocations involving the IGH or MALT1 genes were not identified. Our results indicate genetic similarities between dural MZL and other MZL subtypes. However, recurrent and mutually exclusive genetic alterations of TNFAIP3 and NOTCH2 appear to be associated with distinct disease phenotypes in dural MZL.
5. Genetic and epigenetic variants contributing to clofarabine cytotoxicity. Eadon MT, et al. Hum Mol Genet, 2013 Oct 1. PMID 23720496, Free PMC Article

1. Loss of KLHL6 promotes diffuse large B-cell lymphoma growth and survival by stabilizing the mRNA decay factor roquin2.
2. KLHL6 was positive mainly in B-cell neoplasms of germinal center derivation, including 95% of follicular lymphomas (106/112)
3. Abnormal expression of the KLHL6 oncogene promoted gastric cancer progression in vitro and in vivo, and its expression level in tumor tissue was found to be of prognostic value.
4. report that KLHL6, which is recurrently mutated in B cell lymphomas, is an off-target of the normal somatic hypermutation process taking place in germinal center (GC) B cells leaving open whether, despite the lack of impact of Klhl6 deficiency on GC B cell expansion, mutants could contribute to the oncogenic process
5. characterization of two genes expressed in centroblasts of human tonsils: deltex (Drosophila) homolog 1 (DTX1), which is related to the Notch pathway and a new Kelch-like protein, KLHL6

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