Biomarkers /
KMT2D
Overview
Lysine (K)-specific methyltransferase 2D (KMT2D) is a gene that encodes a protein that functions as a histone methyltransferase that methylates the LYS-4 position of histone H3. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestine cancer, skin cancer, and stomach cancer.
KMT2D is altered in 9.96% of all cancers with lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].
The most common alterations in KMT2D are KMT2D Mutation (8.24%), KMT2D Amplification (0.10%), KMT2D Loss (0.07%), KMT2D Fusion (0.20%), and KMT2D-GPS2 Fusion (0.20%) [3].
Clinical Trials
Significance of KMT2D in Diseases
References
1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta
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.
4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.