protein CBFA2T2; MTG8-like protein; MTG8-related protein 1; myeloid translocation-related protein 1; ETO homologous on chromosome 20; p85, (CBFA2T2, EHT, MTGR1)

Function

• complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 associated with acute myeloid leukemia & chromosomal translocation t(8;21)
• repression of AML1-dependent transcription
• induction of G-CSF/CSF3-dependent cell growth
• tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region.
• homooligomer and heterooligomer with MTG8
• heterodimer with CBFA2T3

Structure

• belongs to the CBFA2T family,
• contains 1 MYND-type Zn+2 finger
• contains 1 TAFH (NHR1) domain

Compartment

nucleus

Alternative splicing

named isoforms=5

Expression

• ubiquitously expressed in fetal & adult tissues
• highly expressed in adult brain, heart, lung, kidney, lymph node, appendix, thymus, testis, uterus, small intestine, prostate, thymus

Pathology

• deletion of the CBFA2T2 gene has been described in
  • polycythemia vera (10%)
  • myelodysplastic syndromes (5%)
  • acute myeloid leukemia (3%)

More general terms

• nuclear protein
• zinc finger protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=9139
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:9139
• OMIM: https://mirror.omim.org/entry/603672
• UniProt: http://www.uniprot.org/uniprot/O43439.html