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CBFA2T3 Gene

protein-coding   GIFtS: 57
GCID: GC16M088941

Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated...

  See CBFA2T3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To,
31 2
     ZMYND42 3
MTG162 3 5     MTG8-Related Protein 22 3
MTGR22 3 5     ETO22
Myeloid Translocation Gene 8 And 16b1 2     MTG8-Related Gene 22
Myeloid Translocation Gene On Chromosome 16 Protein2 3     Protein CBFA2T32
Zinc Finger MYND Domain-Containing Protein 42 3     hMTG163

External Ids:    HGNC: 15371   Entrez Gene: 8632   Ensembl: ENSG000001299937   OMIM: 6038705   UniProtKB: O750813   

Export aliases for CBFA2T3 gene to outside databases

Previous GC identifers: GC16P080276 GC16P089937 GC16M088644 GC16M088685 GC16M087468 GC16M074638


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CBFA2T3 Gene:
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)

GeneCards Summary for CBFA2T3 Gene:
CBFA2T3 (core-binding factor, runt domain, alpha subunit 2; translocated to, 3) is a protein-coding gene. Diseases associated with CBFA2T3 include acute megakaryoblastic leukemia without down syndrome, and myeloid leukemia. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DEAF1.

UniProtKB/Swiss-Prot: MTG16_HUMAN, O75081
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

Gene Wiki entry for CBFA2T3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CBFA2T3 gene promoter:
         Sp1   FOXF2   Tal-1   HTF   Lmo2   Tal-1beta   E47   CP2   HSF2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CBFA2T3 promoter sequence
   Search Chromatin IP Primers for CBFA2T3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CBFA2T3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24   Ensembl cytogenetic band:  16q24.3   HGNC cytogenetic band: 16q24

CBFA2T3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBFA2T3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M088941:  view genomic region     (about GC identifiers)

Start:
88,941,263 bp from pter      End:
89,043,612 bp from pter
Size:
102,350 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MTG16_HUMAN, O75081 (See protein sequence)
Recommended Name: Protein CBFA2T3  
Size: 653 amino acids; 71192 Da
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
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;
Secondary accessions: D3DX78 O60615 O60616 O60617 O75082 O75107 O75108 Q0P5Z6 Q6P5W6
Alternative splicing: 4 isoforms:  O75081-1   O75081-2   O75081-4   O75081-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CBFA2T3: NX_O75081

Explore proteomics data for CBFA2T3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys535
  • Modification sites at PhosphoSitePlus

  • See CBFA2T3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005178.4  NP_787127.1  

    ENSEMBL proteins: 
     ENSP00000332122   ENSP00000268679   ENSP00000464125   ENSP00000454851   ENSP00000457410  
     ENSP00000456717   ENSP00000454872   ENSP00000454609   ENSP00000456102   ENSP00000395739  
     ENSP00000401254   ENSP00000353449  

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    Search eBioscience for ELISAs for CBFA2T3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZMYND: Zinc fingers, MYND-type
    AKAP: A-kinase anchor proteins

    5 InterPro protein domains:
     IPR002893 Znf_MYND
     IPR014896 NHR2
     IPR013289 ETO
     IPR013292 MTG16
     IPR003894 TAFH_NHR1

    Graphical View of Domain Structure for InterPro Entry O75081

    ProtoNet protein and cluster: O75081

    2 Blocks protein domains:
    IPB002893 Zn-finger
    IPB003894 TAF-like region


    UniProtKB/Swiss-Prot: MTG16_HUMAN, O75081
    Similarity: Belongs to the CBFA2T family
    Similarity: Contains 1 MYND-type zinc finger
    Similarity: Contains 1 TAFH (NHR1) domain


    Find genes that share domains with CBFA2T3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTG16_HUMAN, O75081
    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
    Induction: Down-regulated by all-trans retinoic acid (ATRA)

         Genatlas biochemistry entry for CBFA2T3:
    core binding factor Runt domain,alpha subunit 2, translocated to,3,mainly expressed in thymus and possibly in
    monocytes,with several isoforms due to alternative promoters,homolog to Drosophila nervy

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI16966434
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with CBFA2T3           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cbfa2t3):
     hematopoietic system  immune system  no phenotypic analysis 

    Find genes that share phenotypes with CBFA2T3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cbfa2t3tm1.1Swh for CBFA2T3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CBFA2T3
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    hsa-miR-199a-3p hsa-miR-15a hsa-miR-128 hsa-miR-219-5p hsa-miR-3916 hsa-miR-4325 hsa-miR-4274 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidCBFA2T3 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): CBFA2T3 (NM_005187)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBFA2T3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MTG16_HUMAN, O75081: Isoform 1: Nucleus, nucleolus. Note=The RUNX1-CBFA2T3 fusion protein localizes to the
    nucleoplasm
    MTG16_HUMAN, O75081: Isoform 2: Nucleus, nucleoplasm. Golgi apparatus membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus5
    cytosol2
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005622intracellular ----
    GO:0005654nucleoplasm IEA--
    GO:0005730nucleolus IEA--

    Find genes that share ontologies with CBFA2T3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CBFA2T3 About    
    See pathways by source

    SuperPathContained pathways About
    1ErbB4 signaling events
    ErbB4 signaling events


    1 BioSystems Pathway for CBFA2T3
        ErbB4 signaling events


        Pathway & Disease-focused RT2 Profiler PCR Array including CBFA2T3: 
              Notch Signaling Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CBFA2T3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CBFA2T3 (O750811, 2, 3 ENSP000002686794) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLXNA3P518051, 2, 3, ENSP000003586964EBI-1190217,EBI-7135904 MINT-7556975 MINT-7556989 I2D: score=1 STRING: ENSP00000358696
    ZBTB47Q9UFB72, 3, ENSP000004114914MINT-7555667 I2D: score=1 STRING: ENSP00000411491
    ZNF652Q9Y2D91, 3, ENSP000003546864EBI-1190217,EBI-1190229 I2D: score=3 STRING: ENSP00000354686
    PRKAR2AP138613, ENSP000002655634I2D: score=3 STRING: ENSP00000265563
    LDB1Q86U703, ENSP000003924664I2D: score=2 STRING: ENSP00000392466
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0008283cell proliferation TAS9447981
    GO:0030851granulocyte differentiation IDA15231665
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--

    Find genes that share ontologies with CBFA2T3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CBFA2T3 (MTG16)

    1 Novoseek inferred chemical compound relationship for CBFA2T3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 26.2 2 15231665 (1), 15676213 (1)



    Find genes that share compounds with CBFA2T3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CBFA2T3 gene (2 alternative transcripts): 
    NM_005187.5  NM_175931.2  

    Unigene Cluster for CBFA2T3:

    Core-binding factor, runt domain, alpha subunit 2; translocated to, 3
    Hs.513811  [show with all ESTs]
    Unigene Representative Sequence: NM_005187
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000327483(uc002fmk.2 uc002fml.2) ENST00000268679(uc002fmm.2 uc002fmn.2)
    ENST00000563856 ENST00000563920 ENST00000566868 ENST00000569464(uc010cif.1)
    ENST00000569443 ENST00000562719 ENST00000563640 ENST00000564416 ENST00000570046
    ENST00000436887 ENST00000448839 ENST00000360302
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    hsa-miR-199a-3p hsa-miR-15a hsa-miR-128 hsa-miR-219-5p hsa-miR-3916 hsa-miR-4325 hsa-miR-4274 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidCBFA2T3 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat CBFA2T3

    Additional mRNA sequence: 

    AB010419.1 AB010420.1 AF052220.1 AK308355.1 AK314766.1 BC009554.1 BC047019.1 BC062624.1 

    10 DOTS entries:

    DT.91667793  DT.309164  DT.100744991  DT.95359659  DT.100022449  DT.95371800  DT.40221523  DT.91667790 
    DT.95303721  DT.91860989 

    Selected AceView cDNA sequences (see all 83):

    AB010419 BC009554 AA483623 BM852310 CA488368 AB010420 NM_005187 BM914427 
    H70609 AK097904 AI584154 BE676580 BF434339 AI424868 BE253496 NM_175931 
    BQ222355 BQ188104 BM727142 BQ064890 BQ064149 BC062624 BC047019 BM927493 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CBFA2T3 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13
    SP1:                                                                          -           -               
    SP2:                                -                                         -           -               
    SP3:                                                                                      -               
    SP4:                                                                                                      
    SP5:        -                                                                                             


    ECgene alternative splicing isoforms for CBFA2T3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CBFA2T3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CBFA2T3 Expression
    About this image


    CBFA2T3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)
             Cardiac Crescent Cells Cardiac Crescent
     
     Blood (Hematopoietic System)
             Plasmacytoid Dendritic cells Peripheral Blood
    CBFA2T3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CBFA2T3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513811

    UniProtKB/Swiss-Prot: MTG16_HUMAN, O75081
    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)

        Pathway & Disease-focused RT2 Profiler PCR Array including CBFA2T3: 
              Notch Signaling Targets in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBFA2T3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CBFA2T3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cbfa2t31 , 5 core-binding factor, runt domain, alpha subunit 2, more1, 5 84.35(n)1
    90.17(a)1
      8 (71.93 cM)5
    123981  NM_009824.21  NP_033954.21 
     1226287395 
    chicken
    (Gallus gallus)
    Aves CBFA2T31 core-binding factor, runt domain, alpha subunit 2; more 82.33(n)
    85.25(a)
      415846  NM_001030580.1  NP_001025751.1 
    lizard
    (Anolis carolinensis)
    Reptilia CBFA2T36
    core-binding factor, runt domain, alpha subunit 2;...
    73(a)
    1 ↔ 1
    GL343487.1(348-24512)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cbfa2t31 core-binding factor, runt domain, alpha subunit 2; more 71.46(n)
    78.83(a)
      100485526  XM_004913577.1  XP_004913634.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5632521 protein CBFA2T3-like 74.24(n)
    81.36(a)
      563252  XM_005166576.1  XP_005166633.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nvy1 nervy 50.48(n)
    40(a)
      37886  NM_001274237.1  NP_001261166.1 


    ENSEMBL Gene Tree for CBFA2T3 (if available)
    TreeFam Gene Tree for CBFA2T3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CBFA2T3 gene
    DEAF12  CBFA2T22  RUNX1T12  
    6 SIMAP similar genes for CBFA2T3 using alignment to 11 protein entries:     MTG16_HUMAN (see all proteins):
    RUNX1T1    DKFZp313F2116    MTG8    CBFA2T1    CBFA2T2    RUNX1/CBFA2T2 fusion

    Find genes that share paralogs with CBFA2T3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CBFA2T3 (see all 2945)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354474
    A colorectal cancer sample4--see VAR_0354472 R H mis40--------
    VAR_0354494
    A colorectal cancer sample4--see VAR_0354492 A V mis40--------
    VAR_0354484
    A colorectal cancer sample4--see VAR_0354482 E K mis40--------
    rs1927539371,2
    --88940766(+) CCAGTC/GGGGGA 2 -- ds50010--------
    rs775174161,2
    C,F--88940786(+) GAAGAG/ATCCCA 2 -- ds50011Minor allele frequency- A:0.07WA 118
    rs1474049121,2
    --88940806(+) CCTCCA/GAGGGA 2 -- ds50010--------
    rs1836073571,2
    --88940862(+) TGTGGA/GTTCGG 2 -- ds50010--------
    rs1879262341,2
    --88940865(+) GGGTTC/TGGAGC 2 -- ds50010--------
    rs1396220021,2
    --88940879(+) AGAACC/TGCAGC 2 -- ds50010--------
    rs1436162901,2
    C--88940889(+) CCCTGG/TAAGGA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for CBFA2T3 (88941263 - 89043612 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CBFA2T3 (see all 53):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715068CNV Deletion23290073
    esv2715069CNV Deletion23290073
    esv989499CNV Deletion20482838
    esv1211270CNV Deletion17803354
    esv1019051CNV Deletion17803354
    esv2458116CNV Deletion19546169
    esv1293084CNV Deletion17803354
    esv2715077CNV Deletion23290073
    esv2715076CNV Deletion23290073
    esv2715078CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CBFA2T3
    DNA2.0 Custom Variant and Variant Library Synthesis for CBFA2T3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603870    OMIM disorders: --

    UniProtKB/Swiss-Prot: MTG16_HUMAN, O75081
  • 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

  • 3 diseases for CBFA2T3:    
    About MalaCards
    acute megakaryoblastic leukemia without down syndrome    myeloid leukemia    acute myeloid leukemia

    1 disease from the University of Copenhagen DISEASES database for CBFA2T3:
    Leukemia

    Find genes that share disorders with CBFA2T3           About GenesLikeMe

    3 Novoseek inferred disease relationships for CBFA2T3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 43.3 2 12183414 (1)
    breast cancer 11.5 7 12183414 (4), 12579345 (1)
    tumors 0 8 12183414 (4), 15301688 (2)

    Genetic Association Database (GAD): CBFA2T3

    Export disorders for CBFA2T3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CBFA2T3 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with CBFA2T3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family. (PubMed id 9790752)1, 2, 3, 9 Calabi F. and Cilli V. (Genomics 1998)
    2. AML1-ETO decreases ETO-2 (MTG16) interactions with nuclear receptor corepressor, an effect that impairs granulocyte differentiation. (PubMed id 15231665)1, 2, 9 Ibanez V.... Saunthararajah Y. (Cancer Res. 2004)
    3. CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3. (PubMed id 12183414)1, 2, 9 Kochetkova M.... Callen D.F. (Cancer Res. 2002)
    4. The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family. (PubMed id 9596646)1, 2, 9 Gamou T.... Ohki M. (Blood 1998)
    5. The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t(16; 21)-positive myeloid malignancies. (PubMed id 12242670)1, 2, 9 Hoogeveen A.T.... Sacchi N. (Oncogene 2002)
    6. Specificity and spatial dynamics of protein kinase A signaling organized by A-kinase-anchoring proteins. (PubMed id 20150326)1, 3 Pidoux G. and TaskAcn K. (J. Mol. Endocrinol. 2010)
    7. Myeloid translocation gene 16b is a dual A-kinase anchoring protein that interacts selectively with plexins in a phospho-regulated manner. (PubMed id 20138877)1, 2 Fiedler S.E.... Carr D.W. (FEBS Lett. 2010)
    8. The proteomic reactor facilitates the analysis of affinity-purified proteins by mass spectrometry: application for identifying ubiquitinated proteins in human cells. (PubMed id 17203973)1, 2 Vasilescu J.... Figeys D. (J. Proteome Res. 2007)
    9. ZNF652, a novel zinc finger protein, interacts with the putative breast tumor suppressor CBFA2T3 to repress transcription. (PubMed id 16966434)1, 2 Kumar R.... Callen D.F. (Mol. Cancer Res. 2006)
    10. Identification and characterization of myeloid translocation gene 16b as a novel a kinase anchoring protein in T lymphocytes. (PubMed id 11823486)1, 2 Schillace R.V.... Carr D.W. (J. Immunol. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 863 HGNC: 1537 AceView: CBFA2T3 Ensembl:ENSG00000129993 euGenes: HUgn863
    ECgene: CBFA2T3 H-InvDB: CBFA2T3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CBFA2T3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CBFA2T3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CBFA2T3 gene:
    Search GeneIP for patents involving CBFA2T3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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