Human Gene CBFA2T2 (ENST00000342704.11_11) from GENCODE V47lift37
  Description: CBFA2/RUNX1 partner transcriptional co-repressor 2, transcript variant 3 (from RefSeq NM_001032999.3)
Gencode Transcript: ENST00000342704.11_11
Gencode Gene: ENSG00000078699.22_12
Transcript (Including UTRs)
   Position: hg19 chr20:32,077,902-32,237,836 Size: 159,935 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr20:32,078,074-32,232,452 Size: 154,379 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:32,077,902-32,237,836)mRNA (may differ from genome)Protein (595 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MTG8R_HUMAN
DESCRIPTION: RecName: Full=Protein CBFA2T2; AltName: Full=ETO homologous on chromosome 20; AltName: Full=MTG8-like protein; AltName: Full=MTG8-related protein 1; AltName: Full=Myeloid translocation-related protein 1; AltName: Full=p85;
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.
SUBUNIT: Homooligomer and heterooligomer with MTG8. Forms a heterooligomer with the RUNX1/AML1-CBFA2T1/MTG8 chimeric protein, via an interaction with MTG8. Heterodimer with CBFA2T3.
INTERACTION: Q99750:MDFI; NbExp=3; IntAct=EBI-748628, EBI-724076;
SUBCELLULAR LOCATION: Nucleus (Probable).
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.
SIMILARITY: Belongs to the CBFA2T family.
SIMILARITY: Contains 1 MYND-type zinc finger.
SIMILARITY: Contains 1 TAFH (NHR1) domain.
SEQUENCE CAUTION: Sequence=AAC19378.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CBFA2T2
Diseases sorted by gene-association score: myeloid leukemia (15), leukemia, acute myeloid (1)

-  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: 10.59 RPKM in Prostate
Total median expression: 258.69 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -99.20172-0.577 Picture PostScript Text
3' UTR -2043.105384-0.379 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
IPR013291 - MTGR1
IPR014896 - NHR2
IPR003894 - TAFH_NHR1
IPR002893 - Znf_MYND

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

SCOP Domains:
158553 - TAFH domain-like
144232 - HIT/MYND zinc finger-like

ModBase Predicted Comparative 3D Structure on O43439
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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 DetailsGene Details    
Gene SorterGene Sorter    
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-  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:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
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:0045746 negative regulation of Notch signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0060575 intestinal epithelial cell differentiation

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AK294168 - Homo sapiens cDNA FLJ59494 complete cds, highly similar to Protein CBFA2T2.
AK307887 - Homo sapiens cDNA, FLJ97835.
LF383751 - JP 2014500723-A/191254: Polycomb-Associated Non-Coding RNAs.
MA619328 - JP 2018138019-A/191254: Polycomb-Associated Non-Coding RNAs.
AF052211 - Homo sapiens brain MTG8 related protein (MTGR1) mRNA, partial cds.
BC015066 - Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2, mRNA (cDNA clone IMAGE:4294612), complete cds.
AF069747 - Homo sapiens MTG8-like protein MTGR1a mRNA, complete cds.
AK314159 - Homo sapiens cDNA, FLJ94867, Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), mRNA.
GU086368 - Homo sapiens RUNX1/CBFA2T2 fusion protein type 1 (RUNX1/CBFA2T2 fusion) mRNA, partial cds.
AF013970 - Homo sapiens MTG8-like protein MTGR1b mRNA, complete cds.
BC040344 - Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2, mRNA (cDNA clone MGC:9095 IMAGE:3873865), complete cds.
AB527539 - Synthetic construct DNA, clone: pF1KB6102, Homo sapiens CBFA2T2 gene for core-binding factor, runt domain, alpha subunit 2, without stop codon, in Flexi system.
EU446928 - Synthetic construct Homo sapiens clone IMAGE:100070225; IMAGE:100012137; FLH258193.01L core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2) gene, encodes complete protein.
KJ901948 - Synthetic construct Homo sapiens clone ccsbBroadEn_11342 CBFA2T2 gene, encodes complete protein.
GU070940 - Homo sapiens RUNX1/CBFA2T2 fusion protein type 3 (RUNX1/CBFA2T2 fusion) mRNA, partial cds.
AF052210 - Homo sapiens retinal MTG8 related protein (MTGR1) mRNA, partial cds.
AF068266 - Homo sapiens EHT protein mRNA, complete cds.
JF432662 - Synthetic construct Homo sapiens clone IMAGE:100073900 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2) gene, encodes complete protein.
KJ901949 - Synthetic construct Homo sapiens clone ccsbBroadEn_11343 CBFA2T2 gene, encodes complete protein.
AF039200 - Homo sapiens EHT (EHT) mRNA, partial cds.
BC016298 - Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2, mRNA (cDNA clone IMAGE:3836163), partial cds.
LF350193 - JP 2014500723-A/157696: Polycomb-Associated Non-Coding RNAs.
AB209306 - Homo sapiens mRNA for myeloid translocation gene-related protein 1 isoform MTGR1a variant protein.
LF350194 - JP 2014500723-A/157697: Polycomb-Associated Non-Coding RNAs.
CR749462 - Homo sapiens mRNA; cDNA DKFZp313F2116 (from clone DKFZp313F2116).
LF350196 - JP 2014500723-A/157699: Polycomb-Associated Non-Coding RNAs.
JD057568 - Sequence 38592 from Patent EP1572962.
JD451393 - Sequence 432417 from Patent EP1572962.
JD123182 - Sequence 104206 from Patent EP1572962.
JD105205 - Sequence 86229 from Patent EP1572962.
DQ577648 - Homo sapiens piRNA piR-45760, complete sequence.
JD277807 - Sequence 258831 from Patent EP1572962.
JD134203 - Sequence 115227 from Patent EP1572962.
JD256074 - Sequence 237098 from Patent EP1572962.
JD160165 - Sequence 141189 from Patent EP1572962.
JD298931 - Sequence 279955 from Patent EP1572962.
JD516626 - Sequence 497650 from Patent EP1572962.
JD371505 - Sequence 352529 from Patent EP1572962.
JD253165 - Sequence 234189 from Patent EP1572962.
JD186202 - Sequence 167226 from Patent EP1572962.
JD090462 - Sequence 71486 from Patent EP1572962.
JD271474 - Sequence 252498 from Patent EP1572962.
JD211178 - Sequence 192202 from Patent EP1572962.
JD142084 - Sequence 123108 from Patent EP1572962.
JD453110 - Sequence 434134 from Patent EP1572962.
JD211176 - Sequence 192200 from Patent EP1572962.
JD496669 - Sequence 477693 from Patent EP1572962.
JD151419 - Sequence 132443 from Patent EP1572962.
JD124153 - Sequence 105177 from Patent EP1572962.
JD369102 - Sequence 350126 from Patent EP1572962.
JD372393 - Sequence 353417 from Patent EP1572962.
JD202827 - Sequence 183851 from Patent EP1572962.
JD170847 - Sequence 151871 from Patent EP1572962.
JD184614 - Sequence 165638 from Patent EP1572962.
LF350197 - JP 2014500723-A/157700: Polycomb-Associated Non-Coding RNAs.
JD046723 - Sequence 27747 from Patent EP1572962.
JD496799 - Sequence 477823 from Patent EP1572962.
JD243450 - Sequence 224474 from Patent EP1572962.
JD181102 - Sequence 162126 from Patent EP1572962.
JD427733 - Sequence 408757 from Patent EP1572962.
JD353605 - Sequence 334629 from Patent EP1572962.
JD467372 - Sequence 448396 from Patent EP1572962.
JD283008 - Sequence 264032 from Patent EP1572962.
JD119681 - Sequence 100705 from Patent EP1572962.
JD356035 - Sequence 337059 from Patent EP1572962.
JD424159 - Sequence 405183 from Patent EP1572962.
JD431628 - Sequence 412652 from Patent EP1572962.
JD281281 - Sequence 262305 from Patent EP1572962.
LF350198 - JP 2014500723-A/157701: Polycomb-Associated Non-Coding RNAs.
JD084691 - Sequence 65715 from Patent EP1572962.
JD097093 - Sequence 78117 from Patent EP1572962.
JD213143 - Sequence 194167 from Patent EP1572962.
JD367511 - Sequence 348535 from Patent EP1572962.
JD040722 - Sequence 21746 from Patent EP1572962.
JD081132 - Sequence 62156 from Patent EP1572962.
JD137710 - Sequence 118734 from Patent EP1572962.
JD318386 - Sequence 299410 from Patent EP1572962.
JD543894 - Sequence 524918 from Patent EP1572962.
JD236275 - Sequence 217299 from Patent EP1572962.
JD266164 - Sequence 247188 from Patent EP1572962.
JD181575 - Sequence 162599 from Patent EP1572962.
JD259415 - Sequence 240439 from Patent EP1572962.
JD259935 - Sequence 240959 from Patent EP1572962.
JD154270 - Sequence 135294 from Patent EP1572962.
JD262408 - Sequence 243432 from Patent EP1572962.
JD296103 - Sequence 277127 from Patent EP1572962.
JD525368 - Sequence 506392 from Patent EP1572962.
JD352909 - Sequence 333933 from Patent EP1572962.
JD152176 - Sequence 133200 from Patent EP1572962.
JD407487 - Sequence 388511 from Patent EP1572962.
JD212815 - Sequence 193839 from Patent EP1572962.
JD212816 - Sequence 193840 from Patent EP1572962.
JD374528 - Sequence 355552 from Patent EP1572962.
JD489100 - Sequence 470124 from Patent EP1572962.
JD489101 - Sequence 470125 from Patent EP1572962.
JD080277 - Sequence 61301 from Patent EP1572962.
JD242780 - Sequence 223804 from Patent EP1572962.
JD331126 - Sequence 312150 from Patent EP1572962.
JD441790 - Sequence 422814 from Patent EP1572962.
JD329881 - Sequence 310905 from Patent EP1572962.
JD108001 - Sequence 89025 from Patent EP1572962.
JD342096 - Sequence 323120 from Patent EP1572962.
JD342097 - Sequence 323121 from Patent EP1572962.
JD245683 - Sequence 226707 from Patent EP1572962.
JD560671 - Sequence 541695 from Patent EP1572962.
JD395012 - Sequence 376036 from Patent EP1572962.
JD476691 - Sequence 457715 from Patent EP1572962.
JD397023 - Sequence 378047 from Patent EP1572962.
JD414728 - Sequence 395752 from Patent EP1572962.
JD120507 - Sequence 101531 from Patent EP1572962.
JD379589 - Sequence 360613 from Patent EP1572962.
JD094075 - Sequence 75099 from Patent EP1572962.
JD094076 - Sequence 75100 from Patent EP1572962.
JD269918 - Sequence 250942 from Patent EP1572962.
JD356239 - Sequence 337263 from Patent EP1572962.
JD505423 - Sequence 486447 from Patent EP1572962.
LF350199 - JP 2014500723-A/157702: Polycomb-Associated Non-Coding RNAs.
JD065125 - Sequence 46149 from Patent EP1572962.
JD194255 - Sequence 175279 from Patent EP1572962.
JD154282 - Sequence 135306 from Patent EP1572962.
JD354640 - Sequence 335664 from Patent EP1572962.
JD267665 - Sequence 248689 from Patent EP1572962.
JD251234 - Sequence 232258 from Patent EP1572962.
LF350200 - JP 2014500723-A/157703: Polycomb-Associated Non-Coding RNAs.
JD184750 - Sequence 165774 from Patent EP1572962.
DQ589968 - Homo sapiens piRNA piR-57080, complete sequence.
JD102825 - Sequence 83849 from Patent EP1572962.
JD315048 - Sequence 296072 from Patent EP1572962.
JD409050 - Sequence 390074 from Patent EP1572962.
JD232032 - Sequence 213056 from Patent EP1572962.
JD500233 - Sequence 481257 from Patent EP1572962.
JD411486 - Sequence 392510 from Patent EP1572962.
JD109904 - Sequence 90928 from Patent EP1572962.
JD466052 - Sequence 447076 from Patent EP1572962.
JD491670 - Sequence 472694 from Patent EP1572962.
JD438672 - Sequence 419696 from Patent EP1572962.
JD226380 - Sequence 207404 from Patent EP1572962.
JD221468 - Sequence 202492 from Patent EP1572962.
JD164390 - Sequence 145414 from Patent EP1572962.
JD210934 - Sequence 191958 from Patent EP1572962.
JD052531 - Sequence 33555 from Patent EP1572962.
JD369215 - Sequence 350239 from Patent EP1572962.
JD301630 - Sequence 282654 from Patent EP1572962.
JD102232 - Sequence 83256 from Patent EP1572962.
JD204212 - Sequence 185236 from Patent EP1572962.
JD370067 - Sequence 351091 from Patent EP1572962.
JD100805 - Sequence 81829 from Patent EP1572962.
JD072623 - Sequence 53647 from Patent EP1572962.
JD480717 - Sequence 461741 from Patent EP1572962.
JD283729 - Sequence 264753 from Patent EP1572962.
JD547206 - Sequence 528230 from Patent EP1572962.
JD449572 - Sequence 430596 from Patent EP1572962.
JD462119 - Sequence 443143 from Patent EP1572962.
JD056796 - Sequence 37820 from Patent EP1572962.
JD211952 - Sequence 192976 from Patent EP1572962.
JD171727 - Sequence 152751 from Patent EP1572962.
JD281194 - Sequence 262218 from Patent EP1572962.
MA585770 - JP 2018138019-A/157696: Polycomb-Associated Non-Coding RNAs.
MA585771 - JP 2018138019-A/157697: Polycomb-Associated Non-Coding RNAs.
MA585773 - JP 2018138019-A/157699: Polycomb-Associated Non-Coding RNAs.
MA585774 - JP 2018138019-A/157700: Polycomb-Associated Non-Coding RNAs.
MA585775 - JP 2018138019-A/157701: Polycomb-Associated Non-Coding RNAs.
MA585776 - JP 2018138019-A/157702: Polycomb-Associated Non-Coding RNAs.
MA585777 - JP 2018138019-A/157703: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAE6, EHT, ENST00000342704.1, ENST00000342704.10, ENST00000342704.2, ENST00000342704.3, ENST00000342704.4, ENST00000342704.5, ENST00000342704.6, ENST00000342704.7, ENST00000342704.8, ENST00000342704.9, F8W6D7, MTG8R_HUMAN, MTGR1, NM_001032999, O43439, Q5TGE4, Q5TGE5, Q5TGE6, Q5TGE7, Q8IWF3, Q96B06, Q96L00, Q9H436, Q9UJP8, Q9UJP9, Q9UP24, uc317wla.1, uc317wla.2
UCSC ID: ENST00000342704.11_11
RefSeq Accession: NM_001032999.3
Protein: O43439 (aka MTG8R_HUMAN or MT8R_HUMAN)

-  Gene Model Information
  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.