Overview

Location [1]
16q24.3
Protein [2]
Protein CBFA2T3
Synonyms [1]
MTG16, MTGR2, ZMYND4, ETO2, RUNX1T3

Core-binding factor, run domain, alpha subunit 2; translocated to, 3 (CBFA2T3) is a gene that encodes a protein that belongs to the myeloid translocation gene family. The protein interacts with DNA-bound transcription factors and recruits corepressors to participate in transcriptional repression. Fusions, rearrangements, missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

CBFA2T3 is altered in 2.36% of all cancers with colorectal adenocarcinoma, non-small cell lung carcinoma, melanoma, breast carcinoma, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

CBFA2T3 GENIE Cases - Top Diseases

The most common alterations in CBFA2T3 are CBFA2T3 A614T (0.01%), CBFA2T3 Loss (0.01%), CBFA2T3 S280D (0.01%), CBFA2T3 S503L (0.01%), and CBFA2T3 A452V (0.00%) [3].

CBFA2T3 GENIE Cases - Top Alterations

Significance of CBFA2T3 in Diseases

Acute Myeloid Leukemia +

Non-Hodgkin Lymphoma +

Acute Lymphoblastic Leukemia +

Hodgkin Lymphoma +

Myelodysplastic Syndromes +

Acute Biphenotypic Leukemia +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Undifferentiated Leukemia +

Chronic Myeloid Leukemia +

Juvenile Myelomonocytic Leukemia +

Mixed Phenotype Acute Leukemia +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.