CBFA2T2 Gene - CBFA2/RUNX1 Partner Transcriptional Co-Repressor 2
A key transcriptional regulator involved in hematopoiesis and leukemogenesis
Gene Information Card
| Symbol | CBFA2T2 |
|---|---|
| Full Name | CBFA2/RUNX1 Partner Transcriptional Co-Repressor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 9139 ncbi.nlm.nih.gov/gene/9139 |
| Ensembl ID | ENSG00000101203 |
| UniProt ID | O43439 |
| OMIM ID | 603870 |
| HGNC ID | 1536 |
| Aliases | MTGR1, ZMYND3, ETO2 |
Description
CBFA2T2 (also known as MTGR1 or ETO2) encodes a member of the myeloid translocation gene (MTG) family of transcriptional co-repressors. The protein interacts with RUNX1 (CBFA2) and other transcription factors to regulate gene expression during hematopoiesis. It is frequently involved in chromosomal translocations associated with acute myeloid leukemia (AML).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia (AML) | CBFA2T2 forms fusion proteins (e.g., with RUNX1) via chromosomal translocations, disrupting normal transcriptional repression and promoting leukemogenesis. | PMID: 10655551; COSMIC |
| Myelodysplastic Syndromes (MDS) | Altered CBFA2T2 expression or fusion events contribute to dysregulated hematopoiesis. | PMID: 11830424; ClinVar |
| Acute Lymphoblastic Leukemia (ALL) | Rare translocations involving CBFA2T2 have been reported in ALL cases. | PMID: 15692071; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 6.1 | Low |
| Brain | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HL-60 (leukemia) | 11.7 | High expression |
| HeLa (cervical) | 5.4 | Moderate |
| HEK293 (embryonic kidney) | 4.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Ter) | Nonsense | <0.1% (COSMIC) | Loss of function; truncation |
| c.1456G>A (p.Gly486Arg) | Missense | <0.1% (COSMIC) | Unknown; predicted damaging |
| t(8;20)(q22;q11) | Translocation | Rare (COSMIC) | RUNX1-CBFA2T2 fusion in AML |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing transcriptional repression activity.
Gain of Function (GOF)
Fusion proteins (e.g., RUNX1-CBFA2T2) may acquire aberrant transcriptional activation properties.
Dominant Negative (DN)
Truncated forms or fusion proteins can interfere with wild-type CBFA2T2 and RUNX1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RUNX1-CBFA2T2 fusion in AML (KEGG: hsa05221)
• Transcriptional misregulation in cancer (KEGG: hsa05202)
• Notch signaling pathway (Reactome: R-HSA-157118)
Protein Summary
CBFA2T2 (MTGR1) is a 604-amino acid nuclear protein containing four NHR (nervy homology region) domains. It functions as a transcriptional co-repressor by recruiting histone deacetylases (HDACs) to target gene promoters via interaction with RUNX1 and other transcription factors. The protein plays a critical role in hematopoietic stem cell differentiation and is frequently altered in leukemia through chromosomal translocations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CBFA2T2 Knockout HEK293 Cell Line | EDJ-KQ6472 | Human | 9139 | Details Get a Quote |
| CBFA2T2 Knockout A-549 Cell Line | EDJ-KQ30570 | Human | 9139 | Details Get a Quote |
| CBFA2T2 Knockout HCT 116 Cell Line | EDJ-KQ30571 | Human | 9139 | Details Get a Quote |
| CBFA2T2 Knockout HeLa Cell Line | EDJ-KQ30572 | Human | 9139 | Details Get a Quote |
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