CBFA2T2
Summary: In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| CBFA2/RUNX1 translocation partner 2 | MIM:603672 | Ensembl:ENSG00000078699 | HGNC:HGNC:1536 | PA26112 | 20q11.21-q11.22 |
GO terms in CBFA2T2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IDA | GO:0010976 | positive regulation of neuron projection development |
| BP | ISS | GO:0010977 | negative regulation of neuron projection development |
| BP | IEA | GO:0045746 | negative regulation of Notch signaling pathway |
| BP | IBA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IEA | GO:0060575 | intestinal epithelial cell differentiation |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| MF | IEA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IBA | GO:0003714 | transcription corepressor activity |
| MF | IDA | GO:0003714 | transcription corepressor activity |
| MF | TAS | GO:0003714 | transcription corepressor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: CBFA2T2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CBFA2T2
| Database | Pathway ID | Pathway Des. |
|---|
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD399 | Selumetinib | 1 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CBFA2T2
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