Homo sapiens Protein: CBFA2T2
Summary
InnateDB Protein IDBP-601731.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CBFA2T2
Protein Name core-binding factor, runt domain, alpha subunit 2; translocated to, 2
Synonyms EHT; MTGR1; p85; ZMYND3;
Species Homo sapiens
Ensembl Protein ENSP00000433270
InnateDB Gene IDBG-66628 (CBFA2T2)
Protein Structure
UniProt Annotation
Function May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations
Tissue Specificity Ubiquitously expressed in fetal and adult tissues. Highly expressed in adult brain, heart, lung, kidney, lymph node, appendix, thymus, testis, uterus, small intestine, prostate and thymus. {ECO:0000269PubMed:10675041, ECO:0000269PubMed:9447981, ECO:0000269PubMed:9787195, ECO:0000269PubMed:9790752}.
Comments
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
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR002893 Zinc finger, MYND-type
IPR003894 TAFH/NHR1
IPR013289 Eight-Twenty-One
IPR013291 Myeloid transforming gene-related protein-1 (MTGR1)
IPR014896 NHR2-like
PFAM PF01753
PF07531
PF08788
PRINTS PR01875
PR01877
PIRSF
SMART SM00549
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O43439
PhosphoSite PhosphoSite-O43439
TrEMBL Q68DC6
UniProt Splice Variant
Entrez Gene 9139
UniGene Hs.624620
RefSeq
HUGO HGNC:1536
OMIM 603672
CCDS
HPRD 04721
IMGT
EMBL AF013970 AF039200 AF052210 AF068266 AF069747 AF076452 AF076453 AF076454 AF076455 AF076456 AF076457 AF076458 AF076459 AF076460 AF076461 AK294168 AK307887 AK314159 AL034421 AL121906 AL162505 BC015066 BC016298 BC040344 CH471077 CR749462
GenPept AAC17499 AAC19378 AAC39841 AAC64699 AAD02825 AAD41221 AAH15066 AAH16298 AAH40344 BAG36843 BAG57490 CAH18294 CAI19280 CAI19281 CAI22125 CAI22130 CAM28282 EAW76311