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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
SSX2 - SSX Family Member 2
Alias:
SSX
HD21
CT5.2
CT5.2A
HOM-MEL-40
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的产物属于高度同源的滑膜肉瘤X(SSX)断裂蛋白家族。这些蛋白质可能作为转录抑制因子发挥作用。它们还能在癌症患者中引发自发的体液和细胞免疫反应,并成为癌症疫苗免疫治疗中有潜力的靶点。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,这是所有滑膜肉瘤的特征性发现。这个易位导致染色体18上的滑膜肉瘤易位基因与染色体X上的一个SSX基因融合。编码的杂交蛋白可能负责转化活性。这个基因的可变剪接导致多个转录变异体。这个基因还有一个方向相反的、位于染色体X上的约45kb下游的相同重复基因,基因ID:727837。[RefSeq,2013年7月提供]
Related ID:
NCBI:6757
ENSEMBL:ENSG00000241476
HGNC:11336
UNIPROT:Q16385
OMIM:300192
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
6757
3
8
10332 bp
21.62
--
1
--
8
SSX2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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