Human Gene CBFA2T3 (uc002fmk.2) Description and Page Index
  Description: Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 2, mRNA.
RefSeq Summary (NM_175931): 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 chr16:88,941,263-88,947,565 Size: 6,303 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr16:88,943,384-88,945,836 Size: 2,453 Coding Exon Count: 2 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:88,941,263-88,947,565)mRNA (may differ from genome)Protein (152 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedStanford SOURCETreefamUniProtKBWikipedia

-  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
  Press "+" in the title bar above to open this section.

-  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 -228.70470-0.487 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
IPR013292 - MTG16
IPR002893 - Znf_MYND

Pfam Domains:
PF01753 - MYND finger

ModBase Predicted Comparative 3D Structure on B3KR45
FrontTopSide
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 orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003714 transcription corepressor activity
GO:0046872 metal ion binding

Biological Process:
GO:0045892 negative regulation of transcription, DNA-templated


-  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.

-  Other Names for This Gene
  Alternate Gene Symbols: AK090985, B3KR45, B3KR45_HUMAN, NM_175931, NP_787127
UCSC ID: uc002fmk.2
RefSeq Accession: NM_175931
Protein: B3KR45

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK090985.1
exon count: 3CDS single in 3' UTR: no RNA size: 2380
ORF size: 459CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 997.00frame 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: 369# 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.