Overview

Location [1]
3q21.3
Protein [2]
Endothelial transcription factor GATA-2
Synonyms [1]
NFE1B, DCML, MONOMAC, IMD21

GATA binding protein 2 (GATA2) is a gene that encodes a zinc-finger transcription factor in the GATA family. Missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions and insertions are observed in cancers such as colorectal cancer, lung cancer, and skin cancer.

GATA2 is altered in 1.13% of all cancers with colon adenocarcinoma, lung adenocarcinoma, acute myeloid leukemia, prostate adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

GATA2 GENIE Cases - Top Diseases

The most common alterations in GATA2 are GATA2 Mutation (0.84%), GATA2 Exon 3 Mutation (0.37%), GATA2 Amplification (0.16%), GATA2 Exon 5 Mutation (0.13%), and GATA2 Exon 4 Mutation (0.11%) [3].

GATA2 GENIE Cases - Top Alterations

Significance of GATA2 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myeloid Neoplasm +

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.