Homo sapiens Protein: CBFA2T3
Summary
InnateDB Protein IDBP-46978.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CBFA2T3
Protein Name core-binding factor, runt domain, alpha subunit 2; translocated to, 3
Synonyms ETO2; MTG16; MTGR2; ZMYND4;
Species Homo sapiens
Ensembl Protein ENSP00000268679
InnateDB Gene IDBG-46976 (CBFA2T3)
Protein Structure
UniProt Annotation
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.Isoform 2 functions as an A-kinase-anchoring protein.
Subcellular Localization Isoform 1: Nucleus, nucleolus. Note=The RUNX1-CBFA2T3 fusion protein localizes to the nucleoplasm.Isoform 2: Nucleus, nucleoplasm {ECO:0000269PubMed:11823486}. Golgi apparatus membrane {ECO:0000269PubMed:11823486}.
Disease Associations 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.
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). {ECO:0000269PubMed:15231665, ECO:0000269PubMed:9596646, ECO:0000269PubMed:9790752}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 33 [view]
Protein-Protein 33 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0046872 metal ion binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0008283 cell proliferation
GO:0030851 granulocyte differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0000139 Golgi membrane
GO:0005622 intracellular
GO:0005654 nucleoplasm
GO:0005730 nucleolus
Protein Structure and Domains
PDB ID
InterPro IPR002893 Zinc finger, MYND-type
IPR003894 TAFH/NHR1
IPR013289 Eight-Twenty-One
IPR013292 Myeloid transforming gene on chromosome 16 (MTG16)
IPR014896 NHR2-like
PFAM PF01753
PF07531
PF08788
PRINTS PR01875
PR01878
PIRSF
SMART SM00549
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O75081
PhosphoSite PhosphoSite-O75081
TrEMBL H3BSI4
UniProt Splice Variant
Entrez Gene 863
UniGene Hs.717542
RefSeq NP_005178
HUGO HGNC:1537
OMIM 603870
CCDS CCDS10972
HPRD 04847
IMGT
EMBL AB010419 AB010420 AB013286 AC092384 AF052213 AF052214 AF052215 AF052216 AF052217 AF052220 AK090985 BC047019 BC062624 CH471184
GenPept AAC64698 AAC64701 AAC64702 AAH47019 AAH62624 BAA29061 BAA29062 BAA31276 BAA31277 BAG52257 EAW66748 EAW66752