Disease relevance of CLK2

• Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain [1].

Psychiatry related information on CLK2

• The alternative splicing of tau exon 10 and its regulatory proteins CLK2 and TRA2-BETA1 changes in sporadic Alzheimer's disease [2].

High impact information on CLK2

• Presence of the CLK2 kinase prevents the usage of exons 2 and 3, generating the htra2-beta3 mRNA [3].
• Of these three genes, the gene most distal to GBA is a protein kinase (clk2) [4].
• Human CLK2 links cell cycle progression, apoptosis, and telomere length regulation [5].
• Overexpression of hCLK2, however, renders the cell hypersensitive to apoptosis triggered by oxidative stress or DNA replication block and gradually increases telomere length [5].
• These data show a genetic interaction between UNG-1 and activation of the CLK-2 DDR pathway after uracil incorporation into DNA [6].

Biological context of CLK2

• One expressed fusion gene encodes the first 136 amino acids of PAFAH1B3 followed by the complete CLK2 protein [1].
• Previous studies showed that several splicing regulators, among them hTRA2-beta1 and CLK2, regulate exon 10 alternative splicing [2].
• Abrogation of the CLK-2 checkpoint leads to tolerance to base-excision repair intermediates [6].
• We identified significant changes in the expression of mouse neuronal genes, including several with roles in gene expression, such as the Clk2 gene, and neurotransmission, such as genes encoding potassium voltage-gated channels and a muscarinic acetylcholine receptor [7].

Anatomical context of CLK2

• RESULTS AND CONCLUSIONS: In our dataset, GUSB and CLK2 were the best choices as reference genes for EBV-LCLs and fibroblasts, respectively [8].

Associations of CLK2 with chemical compounds

• Our results indicate that persistent repair intermediates and/or single-stranded DNA formed during repair of misincorporated uracil are tolerated in the absence of the CLK-2 checkpoint in C. elegans [6].

Other interactions of CLK2

• In this study, we demonstrate that the human Clk2 and Clk3 (hClk2 and 3) are also found within the nucleus and display dual-specificity kinase activity [9].

References