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 |
|---|---|---|---|---|---|
OMIM IDMIM:603672 Ensembl IDEnsembl:ENSG00000078699 HGNC IDHGNC:HGNC:1536 PHARMGKB IDPA26112 Map Location20q11.21-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 |
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. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CBFA2T2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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