癌症中SMAD2/3 MH2结构域突变
中文名称
通路描述
SMAD2和SMAD3 MH2结构域的突变影响它们与SMAD4形成异三聚体的能力，从而损害TGFβ信号传导。SMAD2和SMAD3 MH2结构域中最常作为错义突变靶点的残基与SMAD4 MH2结构域中已证实参与SMAD异三聚体形成的残基同源。SMAD2的D300对应SMAD4的D351，SMAD3的D258对应SMAD4的D351。SMAD2的P305对应SMAD4的P356，而SMAD2的A354对应SMAD4的A406。SMAD3的R268对应SMAD4的R361。SMAD2和SMAD3 MH2结构域的突变在结直肠癌中研究最为详尽。
英文描述
SMAD2/3 MH2 Domain Mutants in Cancer Mutations in the MH2 domain of SMAD2 and SMAD3 affect their ability to form heterotrimers with SMAD4, thereby impairing TGF-beta signaling (Fleming et al. 2013).
The SMAD2 and SMAD3 MH2 domain residues most frequently targeted by missense mutations are those that are homologous to SMAD4 MH2 domain residues shown to be involved in the formation of SMAD heterotrimers. Asp300 of SMAD2 and Asp258 of SMAD3 correspond to the frequently mutated Asp351 of SMAD4. Pro305 of SMAD2 corresponds to the frequently mutated Pro356 of SMAD4, while Ala354 of SMAD2 corresponds to Ala406 of SMAD4. Arg268 of SMAD3 corresponds to the frequently mutated Arg361 of SMAD4. SMAD2 and SMAD3 MH2 domain mutations have been examined in most detail in colorectal cancer (Fleming et al. 2013).
The SMAD2 and SMAD3 MH2 domain residues most frequently targeted by missense mutations are those that are homologous to SMAD4 MH2 domain residues shown to be involved in the formation of SMAD heterotrimers. Asp300 of SMAD2 and Asp258 of SMAD3 correspond to the frequently mutated Asp351 of SMAD4. Pro305 of SMAD2 corresponds to the frequently mutated Pro356 of SMAD4, while Ala354 of SMAD2 corresponds to Ala406 of SMAD4. Arg268 of SMAD3 corresponds to the frequently mutated Arg361 of SMAD4. SMAD2 and SMAD3 MH2 domain mutations have been examined in most detail in colorectal cancer (Fleming et al. 2013).
所含基因
1 个基因