Class II, major histocompatibility complex, transactivator (CIITA) is a gene that encodes a protein that functions as a positive regulator of class II major histocompatibility complex gene transcription. The protein also facilitates its own transport into the nucleus by binding GTP. Fusions, missense, nonsense, and silent mutations are observed in cancers such as cancers of the central nervous system, intestinal cancer, and skin cancer.
CIITA is altered in 1.42% of all cancers with lung adenocarcinoma, colon adenocarcinoma, melanoma, diffuse large B-cell lymphoma, not otherwise specified, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in CIITA are CIITA Fusion (0.05%), CIITA Amplification (0.07%), CIITA R2H (0.06%), CIITA Loss (0.06%), and CIITA E26D (0.05%) .
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.