Overview

Location [1]
2q31.2
Protein [2]
Nuclear factor erythroid 2-related factor 2
Synonyms [1]
IMDDHH, HEBP1, NRF2

Nuclear factor, erythroid 2-like 2 (NFE2L2) is a gene that encodes a transcription factor protein that is a member of a family of leucine zipper proteins. The protein functions in the regulation of antioxidant response elements that promote immunological responses such as inflammation. Missense mutations, nonsense mutations, silent mutations, and in-frame insertions and deletions are observed in cancers such as esophageal cancer, liver cancer, and lung cancer.

NFE2L2 is altered in 1.47% of all cancers with squamous cell lung carcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, bladder urothelial carcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

NFE2L2 GENIE Cases - Top Diseases

The most common alterations in NFE2L2 are NFE2L2 Mutation (1.65%), NFE2L2 Amplification (0.09%), NFE2L2 E79Q (0.07%), NFE2L2 R34G (0.07%), and NFE2L2 E82D (0.05%) [3].

NFE2L2 GENIE Cases - Top Alterations

Significance of NFE2L2 in Diseases

Non-Small Cell Lung Carcinoma +

Malignant Solid Tumor +

Squamous Cell Lung Carcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

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 6. 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.