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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:88,941,263-89,043,504)mRNA (may differ from genome)Protein (653 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
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="";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CBFA2T3
CDC HuGE Published Literature: CBFA2T3
Positive Disease Associations: Glucose
Related Studies:
  1. Glucose
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: CBFA2T3
Diseases sorted by gene-association score: acute megakaryoblastic leukemia without down syndrome* (247), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.77 RPKM in Brain - Cerebellum
Total median expression: 212.54 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -141.50289-0.490 Picture PostScript Text
3' UTR -683.732121-0.322 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013289 - ETO
IPR013292 - MTG16
IPR014896 - NHR2
IPR003894 - TAFH_NHR1
IPR002893 - Znf_MYND

Pfam Domains:
PF01753 - MYND finger
PF07531 - NHR1 homology to TAF
PF08788 - NHR2 domain like

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
   Protein Sequence  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0001666 response to hypoxia
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0008283 cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0030154 cell differentiation
GO:0030851 granulocyte differentiation
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0045820 negative regulation of glycolytic process
GO:0045892 negative regulation of transcription, DNA-templated
GO:1903715 regulation of aerobic respiration

Cellular Component:
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005794 Golgi apparatus
GO:0016020 membrane

-  Descriptions from all associated GenBank mRNAs
  AB010420 - Homo sapiens mRNA for MTG8-related protein MTG16b, complete cds.
AB010419 - Homo sapiens mRNA for MTG8-related protein MTG16a, complete cds.
BC062624 - Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3, mRNA (cDNA clone MGC:70337 IMAGE:5202447), complete cds.
BC047019 - Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3, mRNA (cDNA clone MGC:51762 IMAGE:5227349), complete cds.
AK314766 - Homo sapiens cDNA, FLJ95635, highly similar to Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), mRNA.
EU446890 - Synthetic construct Homo sapiens clone IMAGE:100070004; IMAGE:100012099; FLH258289.01L core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3) gene, encodes complete protein.
AB527670 - Synthetic construct DNA, clone: pF1KB6175, Homo sapiens CBFA2T3 gene for core-binding factor, runt domain, alpha subunit 2, without stop codon, in Flexi system.
AK308355 - Homo sapiens cDNA, FLJ98303.
BC009554 - Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3, mRNA (cDNA clone IMAGE:3898696), with apparent retained intron.
JD519365 - Sequence 500389 from Patent EP1572962.
JD127118 - Sequence 108142 from Patent EP1572962.
JD365937 - Sequence 346961 from Patent EP1572962.
JD392724 - Sequence 373748 from Patent EP1572962.
JD383610 - Sequence 364634 from Patent EP1572962.
JD253870 - Sequence 234894 from Patent EP1572962.
JD122566 - Sequence 103590 from Patent EP1572962.
JD510133 - Sequence 491157 from Patent EP1572962.
JD221464 - Sequence 202488 from Patent EP1572962.
JD135480 - Sequence 116504 from Patent EP1572962.
JD055679 - Sequence 36703 from Patent EP1572962.
AK090985 - Homo sapiens cDNA FLJ33666 fis, clone BRAMY2027752, highly similar to Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 2, mRNA.
JD099099 - Sequence 80123 from Patent EP1572962.
JD254278 - Sequence 235302 from Patent EP1572962.
JD104679 - Sequence 85703 from Patent EP1572962.
JD190304 - Sequence 171328 from Patent EP1572962.
JD442621 - Sequence 423645 from Patent EP1572962.
JD165621 - Sequence 146645 from Patent EP1572962.
JD359822 - Sequence 340846 from Patent EP1572962.
JD181962 - Sequence 162986 from Patent EP1572962.
JD341107 - Sequence 322131 from Patent EP1572962.
JD145828 - Sequence 126852 from Patent EP1572962.
AK097904 - Homo sapiens cDNA FLJ40585 fis, clone THYMU2008191, highly similar to Homo sapiens mRNA for MTG8-related protein MTG16a.
JD117824 - Sequence 98848 from Patent EP1572962.
JD387865 - Sequence 368889 from Patent EP1572962.
JD065217 - Sequence 46241 from Patent EP1572962.
JD092833 - Sequence 73857 from Patent EP1572962.
JD265130 - Sequence 246154 from Patent EP1572962.
JD527799 - Sequence 508823 from Patent EP1572962.
JD555631 - Sequence 536655 from Patent EP1572962.
JD300081 - Sequence 281105 from Patent EP1572962.
JD137905 - Sequence 118929 from Patent EP1572962.
JD128556 - Sequence 109580 from Patent EP1572962.
JD036964 - Sequence 17988 from Patent EP1572962.
JD367881 - Sequence 348905 from Patent EP1572962.
JD398192 - Sequence 379216 from Patent EP1572962.
JD449568 - Sequence 430592 from Patent EP1572962.
JD451992 - Sequence 433016 from Patent EP1572962.
JD370029 - Sequence 351053 from Patent EP1572962.
JD399685 - Sequence 380709 from Patent EP1572962.
JD477344 - Sequence 458368 from Patent EP1572962.
JD157242 - Sequence 138266 from Patent EP1572962.
AF052220 - Homo sapiens MTG8-related protein 2 mRNA, partial cds.
JD373349 - Sequence 354373 from Patent EP1572962.
JD535728 - Sequence 516752 from Patent EP1572962.
JD150683 - Sequence 131707 from Patent EP1572962.
JD383518 - Sequence 364542 from Patent EP1572962.
JD387476 - Sequence 368500 from Patent EP1572962.
JD456423 - Sequence 437447 from Patent EP1572962.
JD209783 - Sequence 190807 from Patent EP1572962.
JD297462 - Sequence 278486 from Patent EP1572962.
JD166799 - Sequence 147823 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DX78, MTG16, MTG16_HUMAN, MTGR2, NM_005187, NP_005178, O60615, O60616, O60617, O75081, O75082, O75107, O75108, Q0P5Z6, Q6P5W6, ZMYND4
UCSC ID: uc002fmm.2
RefSeq Accession: NM_005187
Protein: O75081 (aka MTG16_HUMAN)
CCDS: CCDS10972.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_005187.5
exon count: 12CDS single in 3' UTR: no RNA size: 4372
ORF size: 1962CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3920.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.