CBFA2T2
CBFA2/RUNX1 partner transcriptional co-repressor 2
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]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs187449369 | 20:32,077,916 | C/A | regulatory region variant | — |
| rs759980648 | 20:32,078,083 | G/A | — | uncertain significance |
| rs73119111 | 20:32,080,308 | A/G | intron variant | — |
| rs546413218 | 20:32,115,207 | C/T | — | — |
| rs2150165 | 20:32,127,671 | A/G | — | — |
| rs545500184 | 20:32,143,464 | C/T | — | — |
| rs150186997 | 20:32,162,011 | C/T | — | uncertain significance |
| rs2515234730 | 20:32,162,023 | G/T | — | uncertain significance |
| rs146826289 | 20:32,162,037 | G/A | — | uncertain significance |
| rs140120353 | 20:32,186,864 | C/T | intron variant | — |
| rs751036216 | 20:32,194,776 | A/G | — | uncertain significance |
| rs1329327211 | 20:32,194,885 | T/A | — | uncertain significance |
| rs767216361 | 20:32,198,915 | A/G | — | uncertain significance |
| rs2515287029 | 20:32,207,341 | G/A | — | uncertain significance |
| rs139150224 | 20:32,210,967 | C/T | — | uncertain significance |
| rs199515579 | 20:32,210,974 | G/C | — | uncertain significance |
| rs757851880 | 20:32,212,564 | C/T | — | likely benign |
| rs140571621 | 20:32,212,601 | A/G | — | likely benign |
| rs1000104269 | 20:32,212,817 | A/C | — | uncertain significance |
| rs773945188 | 20:32,216,179 | G/A | — | uncertain significance |
| rs568783051 | 20:32,217,526 | C/T | — | uncertain significance |
| rs768371975 | 20:32,217,548 | G/A | — | uncertain significance |
| rs747748686 | 20:32,217,565 | G/A | — | uncertain significance |
| rs140481995 | 20:32,217,585 | C/T | — | uncertain significance |
| rs145709031 | 20:32,217,586 | G/A | — | uncertain significance |
| rs774645939 | 20:32,224,451 | C/G | — | uncertain significance |
| rs576242205 | 20:32,224,464 | A/G | — | likely benign |
| rs757061554 | 20:32,228,230 | G/T | — | uncertain significance |
| rs75180889 | 20:32,228,315 | A/G | — | likely benign |
| rs369774013 | 20:32,232,262 | T/G | — | uncertain significance |
| rs1471715205 | 20:32,232,385 | C/A | — | uncertain significance |
| rs754137827 | 20:32,232,442 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.