该基因产物属于高度同源滑膜肉瘤X(SSX)断点蛋白家族。这些蛋白可能作为转录抑制因子发挥作用。它们还能够激发癌症患者的自发体液和细胞免疫反应,是基于癌症疫苗的免疫治疗的潜在有用靶点。这个基因,以及ssx1和ssx4家族成员,参与了t(x;18)(p11.2;q11.2)易位,其特征性见于所有滑膜肉瘤。这种易位导致18号染色体滑膜肉瘤易位基因与X号染色体SSX基因的融合。编码的杂交蛋白可能负责转化活性。这种基因的选择性剪接导致多种转录变异。这个基因也有一个相同的复制品,geneid:727837,位于X染色体的相反方向下游约45kb处。
The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 727837, located about 45 kb downstream in the opposite orientation on chromosome X.

基因名:SSX2
别名:CT5.2,CT5.2A,HD21,HOM-MEL-40,SSX
基因ID:6757
Chromosome:
(GRCh37)
HG1433_PATCH Start: 52439896 End: 52450189 Strand: -1
信号通路:  
SSX2 基因突变与药物

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