菜单 基因医生

arg和c-abl代表非受体蛋白酪氨酸激酶abelson家族的哺乳动物成员。它们通过后一类蛋白质羧基端的sh3结构域与arg/abl结合蛋白相互作用。该基因编码含有2个蛋白的山梨蛋白和sh3结构域。它有三个c端sh3结构域和一个n端sorbin同源结构域(soho)与脂筏蛋白相互作用。这种蛋白在上皮细胞和心肌细胞中的亚细胞定位表明,它作为一种适配蛋白在应激纤维中组装信号复合物,是Abl家族激酶和肌动蛋白细胞骨架之间的潜在联系选择性剪接导致编码不同亚型的多个转录变体[由RefSeq提供,2008年7月]
Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

基因名:SORBS2
别名:ARGBP2,PRO0618
基因ID:8470
Chromosome:
(GRCh37)
4 Start: 186506598 End: 186877870 Strand: 
信号通路:  
SORBS2 基因突变与药物