Overview

Location [1]
19q13.12
Protein [2]
Histone-lysine N-methyltransferase 2B
Synonyms [1]
CXXC10, DYT28, MLL4, MLL2, WBP-7, WBP7, HRX2, TRX2, MLL1B

Lysine (K)-specific methyltransferase 2B (KMT2B) is a gene that encodes a protein that functions in transcriptional regulation. The protein is also involved in oocyte growth and preimplantation development. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

KMT2B is altered in 5.10% of all cancers with colon adenocarcinoma, endometrial endometrioid adenocarcinoma, lung adenocarcinoma, cutaneous melanoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

KMT2B GENIE Cases - Top Diseases

The most common alterations in KMT2B are KMT2B Mutation (3.53%), KMT2B Amplification (1.09%), KMT2B Loss (0.05%), KMT2B R2587* (0.04%), and KMT2B A5del (0.03%) [3].

KMT2B GENIE Cases - Top Alterations

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.