InnateDB Protein
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IDBP-66632.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CBFA2T2
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Protein Name
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core-binding factor, runt domain, alpha subunit 2; translocated to, 2
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Synonyms
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EHT; MTGR1; p85; ZMYND3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000341865
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InnateDB Gene
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IDBG-66628 (CBFA2T2)
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Protein Structure
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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.
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Subcellular Localization |
Nucleus {ECO:0000305}.
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Disease Associations |
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
22
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
GO:0006355
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regulation of transcription, DNA-templated
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GO:0010976
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positive regulation of neuron projection development
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GO:0010977
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negative regulation of neuron projection development
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Cellular Component |
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PDB ID |
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InterPro |
IPR003894
TAFH/NHR1
IPR013289
Eight-Twenty-One
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PFAM |
PF07531
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PRINTS |
PR01875
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PIRSF |
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SMART |
SM00549
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TIGRFAMs |
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Modification |
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SwissProt |
O43439
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PhosphoSite |
PhosphoSite-O43439
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
9139
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UniGene |
Hs.624620
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RefSeq |
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HUGO |
HGNC:1536
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OMIM |
603672
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CCDS |
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HPRD |
04721
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IMGT |
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EMBL |
AF013970
AF039200
AF052210
AF068266
AF069747
AF076452
AF076453
AF076454
AF076455
AF076456
AF076457
AF076458
AF076459
AF076460
AF076461
AK307887
AK314159
AL034421
AL121906
AL162505
BC015066
BC016298
BC040344
CH471077
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GenPept |
AAC17499
AAC19378
AAC39841
AAC64699
AAD02825
AAD41221
AAH15066
AAH16298
AAH40344
BAG36843
CAI19280
CAI19281
CAI22125
CAI22130
CAM28282
EAW76311
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