SMAD family member 2 (SMAD2) is a gene that encodes a protein that is a member of the SMAD family. The protein functions as a signal transducer and transcriptional regulator for several signaling pathways, particularly the TGF-beta signaling pathway. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.
SMAD2 is altered in 1.28% of all cancers with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, rectal adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in SMAD2 are SMAD2 Mutation (0.87%), SMAD2 Loss (0.22%), SMAD2 Amplification (0.12%), SMAD2 S464* (0.07%), and SMAD2 R321Q (0.03%) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.