Human Gene CBFA2T3 (uc002fmm.2) Description and Page Index
Description: Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA. RefSeq Summary (NM_005187): This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]. Transcript (Including UTRs) Position: hg19 chr16:88,941,263-89,043,504 Size: 102,242 Total Exon Count: 12 Strand: - Coding Region Position: hg19 chr16:88,943,384-89,043,215 Size: 99,832 Coding Exon Count: 12
ID:MTG16_HUMAN DESCRIPTION: RecName: Full=Protein CBFA2T3; AltName: Full=MTG8-related protein 2; AltName: Full=Myeloid translocation gene on chromosome 16 protein; Short=hMTG16; AltName: Full=Zinc finger MYND domain-containing protein 4; FUNCTION: Functions as a transcriptional repressor. Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes. Plays a role in granulocyte differentiation. FUNCTION: Isoform 2 functions as an A-kinase-anchoring protein. SUBUNIT: Component of a TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3 (By similarity). Heterodimer with RUNX1T1 and CBFA2T2. Interacts with ERBB4, HDAC1, HDAC2, HDAC3, HDAC6, HDAC8, NCOR1, NCOR2, and ZNF652. According to PubMed:12242670, may not interact with HDAC6. Interacts with PLXNA1, PLXNA3 and PRKAR1A. Isoform 2 interacts with PRKAR2A, PDE7A and probably PDE4A. INTERACTION: Q9Y2D9:ZNF652; NbExp=2; IntAct=EBI-1190217, EBI-1190229; SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleolus. Note=The RUNX1-CBFA2T3 fusion protein localizes to the nucleoplasm. SUBCELLULAR LOCATION: Isoform 2: Nucleus, nucleoplasm. Golgi apparatus membrane. TISSUE SPECIFICITY: Widely expressed with higher expression in heart, pancreas, skeletal muscle, spleen, thymus and peripheral blood leukocytes. Expressed in hematopoietic cells (at protein level). INDUCTION: Down-regulated by all-trans retinoic acid (ATRA). DISEASE: Note=A chromosomal aberration involving CBFA2T3 is found in therapy-related myeloid malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein. SIMILARITY: Belongs to the CBFA2T family. SIMILARITY: Contains 1 MYND-type zinc finger. SIMILARITY: Contains 1 TAFH (NHR1) domain. SEQUENCE CAUTION: Sequence=AAH62624.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=BAA31276.1; Type=Erroneous gene model prediction; Sequence=BAA31277.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CBFA2T3ID428ch16q24.html";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CBFA2T3 CDC HuGE Published Literature: CBFA2T3 Positive Disease Associations: Glucose Related Studies:
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75081
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.