Version 5.4
Homo sapiens Gene: CBFA2T2
Summary
InnateDB Gene IDBG-66628.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CBFA2T2
Gene Name core-binding factor, runt domain, alpha subunit 2; translocated to, 2
Synonyms EHT; MTGR1; p85; ZMYND3
Species Homo sapiens
Ensembl Gene ENSG00000078699
Encoded Proteins
IDBP-66632
core-binding factor, runt domain, alpha subunit 2; translocated to, 2
IDBP-66636
core-binding factor, runt domain, alpha subunit 2; translocated to, 2
IDBP-66638
core-binding factor, runt domain, alpha subunit 2; translocated to, 2
IDBP-66640
core-binding factor, runt domain, alpha subunit 2; translocated to, 2
IDBP-66642
core-binding factor, runt domain, alpha subunit 2; translocated to, 2
IDBP-234536
core-binding factor, runt domain, alpha subunit 2; translocated to, 2
IDBP-601731
core-binding factor, runt domain, alpha subunit 2; translocated to, 2
IDBP-591203
core-binding factor, runt domain, alpha subunit 2; translocated to, 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:33490075-33650036
Strand Forward strand
Band q11.21
Transcripts
ENST00000344201 ENSP00000341865
ENST00000346541 ENSP00000262653
ENST00000375279 ENSP00000364428
ENST00000359606 ENSP00000352622
ENST00000342704 ENSP00000345810
ENST00000397800 ENSP00000380902
ENST00000471007
ENST00000492345 ENSP00000433270
ENST00000491618
ENST00000543126 ENSP00000443398
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 22 [view]
Protein-Protein 22 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0046872 metal ion binding
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0010976 positive regulation of neuron projection development
GO:0010977 negative regulation of neuron projection development
GO:0030855 epithelial cell differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000038533
View Gene Order
ENSBTAG00000010131
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.153934 Hs.602694 Hs.624620
RefSeq NM_001032999 NM_001039709 NM_005093 XM_006723886 XM_006723887
HUGO
OMIM
CCDS CCDS13221 CCDS46590
HPRD 04721
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca