Protein tyrosine phosphatase, non-receptor type 6 (PTPN6) is a gene that encodes a protein that functions as a signaling molecule. The protein regulates multiple cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Missense mutations, silent mutations, and frameshift deletions are observed in cancers such as intestinal cancer, peritoneal cancer, and skin cancer.
PTPN6 is altered in 1.01% of all cancers with colon adenocarcinoma, cancer, NOS, colorectal adenocarcinoma, gliosarcoma, and lung adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in PTPN6 are PTPN6 Amplification (2.84%), PTPN6 E367K (0.08%), PTPN6 G159D (0.08%), PTPN6 G456D (0.08%), and PTPN6 K576* (1.09%) .
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.