Overview

Location [1]
7q21.11
Protein [2]
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
Synonyms [1]
ACVRIP1, NPHS15, AIP-1, MAGI-2, SSCAM, AIP1, ARIP1

Membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2) is a gene that encodes a protein that interacts with atrophin-1. Missense mutations, synonymous mutations, nonsense mutations, and frameshift deletions are observed in cancers such as skin cancer, stomach cancer, and colon cancer.

MAGI2 is altered in 0.81% of all cancers with cutaneous melanoma, lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, and melanoma having the greatest prevalence of alterations [3].

MAGI2 GENIE Cases - Top Diseases

The most common alterations in MAGI2 are MAGI2 Mutation (4.38%), MAGI2 Amplification (0.86%), MAGI2 Fusion (0.04%), MAGI2 R766* (0.18%), and MAGI2 A417T (0.12%) [3].

MAGI2 GENIE Cases - Top Alterations

Significance of MAGI2 in Diseases

Melanoma +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Malignant Solid Tumor +

Colorectal Carcinoma +

Head And Neck Carcinoma +

Breast Carcinoma +

Glioblastoma +

Pancreatic Carcinoma +

Ovarian Carcinoma +

Sarcoma +

Anaplastic Astrocytoma +

Lymphoma +

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.