CBFA2T3 Gene - Core-Binding Factor Alpha Subunit 2 Translocated To, 3
Transcriptional corepressor involved in hematopoiesis and leukemia
Gene Information Card
| Symbol | CBFA2T3 |
|---|---|
| Full Name | CBFA2T3 (core-binding factor, runt domain, alpha subunit 2; translocated to, 3) |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 863 ncbi.nlm.nih.gov/gene/863 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | O75081 |
| OMIM ID | 603870 |
| HGNC ID | 1536 |
| Aliases | MTG16, ETO2, ZMYND4, MTGR2 |
Description
CBFA2T3 (also known as MTG16 or ETO2) encodes a member of the myeloid translocation gene family. The protein functions as a transcriptional corepressor by interacting with RUNX1 and recruiting histone deacetylase complexes. It plays a critical role in normal hematopoiesis, particularly in erythroid and megakaryocytic differentiation. Chromosomal rearrangements involving CBFA2T3 are recurrent in acute myeloid leukemia (AML) and therapy-related myeloid neoplasms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | CBFA2T3 rearrangements (e.g., t(16;21)(q24;q22) fusing with RUNX1) produce a chimeric protein that disrupts normal transcriptional regulation, blocking differentiation and promoting leukemogenesis. | Recurrent cytogenetic abnormality; reported in COSMIC and ClinVar. |
| Therapy-related myeloid neoplasms | CBFA2T3 rearrangements are associated with prior exposure to topoisomerase II inhibitors. | Case reports and cytogenetic studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lymph node | 6.1 | Low |
| Brain | 2.4 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HL-60 (promyelocytic leukemia) | 10.1 | Moderate expression |
| HEK293 (embryonic kidney) | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375*) | Nonsense | <0.1% | Premature truncation; loss of function |
| c.1456_1457insA (p.Thr486Asnfs*2) | Frameshift | <0.1% | Loss of function |
| t(16;21)(q24;q22) | Translocation | Recurrent in AML | RUNX1-CBFA2T3 fusion; gain of function (aberrant repression) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking corepressor activity.
Gain of Function (GOF)
RUNX1-CBFA2T3 fusion acts as a potent transcriptional repressor, blocking differentiation.
Dominant Negative (DN)
Not clearly established for CBFA2T3 alone; fusion protein may exert dominant-negative effects on RUNX1 targets.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RUNX1 signaling in hematopoiesis
• Notch signaling (via interaction with HDAC complexes)
• Transcriptional misregulation in cancer (KEGG hsa05202)
Protein Summary
CBFA2T3 (MTG16/ETO2) is a 604-amino acid nuclear protein containing a Nervy homology region (NHR) domain that mediates interactions with RUNX1 and histone deacetylases. It acts as a transcriptional corepressor, repressing RUNX1 target genes involved in hematopoietic differentiation. The protein is widely expressed in hematopoietic tissues. Chromosomal translocations fusing CBFA2T3 with RUNX1 produce an oncogenic fusion protein that blocks differentiation and contributes to leukemogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CBFA2T3 Knockout HEK293 Cell Line | EDJ-KQ4197 | Human | 863 | Details Get a Quote |
| CBFA2T3 Knockout HCT 116 Cell Line | EDJ-KQ26654 | Human | 863 | Details Get a Quote |
| CBFA2T3 Knockout HeLa Cell Line | EDJ-KQ52795 | Human | 863 | Details Get a Quote |
| CBFA2T3 Knockout A-549 Cell Line | EDJ-KQ61266 | Human | 863 | Details Get a Quote |
