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protein CBFA2T2; MTG8-like protein; MTG8-related protein 1; myeloid translocation-related protein 1; ETO homologous on chromosome 20; p85, (CBFA2T2, EHT, MTGR1)
Function:
1) complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 associated with acute myeloid leukemia & chromosomal translocation t(8;21)
2) repression of AML1-dependent transcription
3) induction of G-CSF/CSF3-dependent cell growth
4) tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region.
5) homooligomer and heterooligomer with MTG8
6) 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
a) polycythemia vera (10%)
b) myelodysplastic syndromes (5%)
c) acute myeloid leukemia (3%)
General
nuclear protein
zinc finger protein
Properties
SIZE: MW = 67 kD
entity length = 604 aa
COMPARTMENT: cell nucleus
MOTIF: proline-rich region
SITE: 33-97
MOTIF: proline residue (SEVERAL)
TAFH {113-208}
coiled coil {451-491}
Zinc finger
NAME: Zinc finger
SITE: 517-553
EFFECTOR-BOUND: Zn+2
Database Correlations
OMIM 603672
UniProt O43439
PFAM correlations
Entrez Gene 9139
Kegg hsa:9139
References
UniProt :accession O43439