基因名称：SRSF2 （serine and arginine rich splicing factor 2）
别名： PR264,SC-35,SC35,SFRS2,SFRS2A,SRp30b
基因ID：6427
Chromosome(GRCh37) ：17 Start: 74730197 End: 74733456 Strand: -1
信号通路：
靶向药：
化疗药：
简介：该基因编码的蛋白质是富含丝氨酸/精氨酸（SR）的前mRNA剪接因子家族的一员，构成剪接体的一部分。这些因子中的每一个都包含一个结合RNA的RNA识别基序（rrm）和一个结合其他蛋白质的rs域。RS域富含丝氨酸和精氨酸残基，促进不同SR剪接因子之间的相互作用。除了对mRNA剪接至关重要外，SR蛋白还被证明参与了从细胞核的mRNA输出和翻译。该基因有两个编码相同蛋白质的转录变体和一个非编码转录变体。此外，在11号染色体上发现了该基因的一个假基因。The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11.
SRSF2突变与药物：
MUTATION
药物：
Ziv-阿柏西普
疾病：
急性髓性白血病
