Overview

Location [1]
11q21
Protein [2]
Mastermind-like protein 2
Synonyms [1]
MAM-3, MAM3, MLL-MAML2, MAM2

Mastermind-like transcriptional coactivator 2 (MAML2) is a gene that encodes a protein that positively regulates Notch signaling. Missense mutations, silent mutations, inframe deletions, and nonsense mutations are observed in cancers such as colon cancer, endometrial cancer, and skin cancer.

MAML2 is altered in 0.23% of all cancers with conventional glioblastoma multiforme, endometrial endometrioid adenocarcinoma, lung adenocarcinoma, bladder urothelial carcinoma, and colorectal adenocarcinoma having the greatest prevalence of alterations [3].

MAML2 GENIE Cases - Top Diseases

The most common alterations in MAML2 are MAML2 Mutation (2.24%), MAML2 Q617_Q621del (0.17%), MAML2 Q619_Q621del (0.19%), MAML2 Q621dup (0.15%), and MAML2-CRTC1 Fusion (0.03%) [3].

MAML2 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.