Overview

Location [1]
17q12-q21.1
Protein [2]
Zinc finger protein Aiolos
Synonyms [1]
AIO, AIOLOS, ZNFN1A3

IKAROS family zinc finger 3 (Aiolos) (IKZF3) is a gene that encodes a protein that functions as a hematopoietic-specific transcription factor that regulates lymphocyte development. Importantly, the protein is involved in the regulation of B lymphocyte proliferation and differentiation. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as biliary tract cancer, intestinal cancer, and skin cancer.

IKZF3 is altered in 0.63% of all cancers with breast invasive ductal carcinoma, invasive breast carcinoma, esophageal adenocarcinoma, diffuse large B-cell lymphoma, not otherwise specified, and colon adenocarcinoma having the greatest prevalence of alterations [3].

IKZF3 GENIE Cases - Top Diseases

The most common alterations in IKZF3 are IKZF3 Amplification (1.39%), IKZF3 L162R (0.11%), IKZF3-ERBB2 Fusion (0.01%), IKZF3 Fusion (0.05%), and IKZF3 L359V (0.03%) [3].

IKZF3 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.