Recombinant Human Protein CBFA2T2 (CBFA2T2)

Uniprot Id

O43439

Target Species

Human

Target Name

CBFA2T2

Target Full Name

Protein CBFA2T2

Target Function

Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency. Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner. Can repress the expression of MMP7 in a ZBTB33-dependent manner. May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes. Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation.

Target Involvement

A chromosomal aberration involving CBFA2T2 is found in childhood precursor B-cell acute lymphoblastic leukemia (pre-B ALL). Translocation t(9;20)(p13;q11) with PAX5.

Target Subcellular Location

Nucleus.

Target Protein Families

CBFA2T family

Target Tissue Specificity

Ubiquitously expressed in fetal and adult tissues. Highly expressed in adult brain, heart, lung, kidney, lymph node, appendix, thymus, testis, uterus, small intestine, prostate and thymus.

Target Synonyms

AML1 MTG8; cbfa2t2; Core binding factor runt domain alpha subunit 2 translocated to 2; core-binding factor; runt domain; alpha subunit 2; DKFZp313F2116; EHT; ETO homolog on chromosome 20; ETO homologous on chromosome 20; MTG 8 like protein; MTG 8 related protein 1; MTG8 like protein; MTG8 related protein 1; MTG8-like protein; MTG8-related protein 1; MTG8R_HUMAN; MTGR 1; Myeloid translocation gene related protein 1; Myeloid translocation related protein 1; Myeloid translocation-related protein 1; p85; Protein CBFA2T2; ZMYND 3; ZMYND3

Target Background

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.