CLK2靶向药基因

基因名称:CLK2  (CDC like kinase 2)

别名:
基因ID:1196
Chromosome(GRCh37) :1 Start: 155232659 End: 155243305 Strand:
信号通路:
靶向药:
化疗药:

简介:该基因编码一种双特异性蛋白激酶,磷酸化丝氨酸/苏氨酸和酪氨酸底物。该蛋白的活性调节剪接体复合体中富含丝氨酸和精氨酸(SR)的蛋白质,从而影响选择性转录剪接。该位点与19号染色体上的pafah1b3(血小板活化因子乙酰水解酶1b,催化亚单位3(29kDa))基因之间的染色体易位已经被证实,从而产生了融合蛋白。注意,该基因与telo2基因(geneid:9894)不同,后者共享clk2别名,但编码一种参与端粒长度调节的蛋白质。在7号染色体上有一个假基因。选择性剪接导致多个转录变体[由RefSeq提供,2014年6月]This gene encodes a dual specificity protein kinase that phosphorylates serine/threonine and tyrosine-containing substrates. Activity of this protein regulates serine- and arginine-rich (SR) proteins of the spliceosomal complex, thereby influencing alternative transcript splicing. Chromosomal translocations have been characterized between this locus and the PAFAH1B3 (platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)) gene on chromosome 19, resulting in the production of a fusion protein. Note that this gene is distinct from the TELO2 gene (GeneID:9894), which shares the CLK2 alias, but encodes a protein that is involved in telomere length regulation. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
CLK2突变与药物:

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