Overview

Location [1]
19p13.11
Protein [2]
Myocyte-specific enhancer factor 2B
Synonyms [1]
RSRFR2

Myocyte enhancer factor 2B (MEF2B) is a gene that encodes a protein that functions in the regulation of gene expression in a smooth muscle gene - the smooth muscle myosin heavy chain gene. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions and deletions are observed in cancers such as liver cancer, lung cancer, and skin cancer.

MEF2B is altered in 1.16% of all cancers with colon adenocarcinoma, lung adenocarcinoma, diffuse large B-cell lymphoma, not otherwise specified, breast invasive ductal carcinoma, and high grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

MEF2B GENIE Cases - Top Diseases

The most common alterations in MEF2B are MEF2B Amplification (0.24%), MEF2B Loss (0.05%), MEF2B T274P (0.19%), MEF2B D83V (0.02%), and MEF2B E301K (0.03%) [3].

MEF2B 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.