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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CBFA2T2 Gene

protein-coding   GIFtS: 54
GCID: GC20P032077

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

  See 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)
About This Section

Aliases
Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To,
21 2
     MTG8-Related Protein 12 3
EHT2 3 5     p852 3
MTGR12 3 5     ZMYND32
Myeloid Translocation-Related Protein 12 3     ETO Homolog On Chromosome 202
ETO Homologous On Chromosome 202 3     Myeloid Translocation Gene-Related Protein 12
MTG8-Like Protein2 3     Protein CBFA2T22

External Ids:    HGNC: 15361   Entrez Gene: 91392   Ensembl: ENSG000000786997   OMIM: 6036725   UniProtKB: O434393   

Export aliases for CBFA2T2 gene to outside databases

Previous GC identifers: GC20P031908 GC20P032818 GC20P032865 GC20P031476 GC20P028864


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CBFA2T2 Gene:
In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most
frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the
RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate
with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein
encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several
transcript variants are thought to exist for this gene, but the full-length natures of only three have been
described. (provided by RefSeq, Jul 2008)

GeneCards Summary for CBFA2T2 Gene: 
CBFA2T2 (core-binding factor, runt domain, alpha subunit 2; translocated to, 2) is a protein-coding gene. Diseases associated with CBFA2T2 include acute myeloid leukemia, and myeloid leukemia. GO annotations related to this gene include transcription corepressor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DEAF1.

UniProtKB/Swiss-Prot: MTG8R_HUMAN, O43439
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

Gene Wiki entry for CBFA2T2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CBFA2T2 gene promoter:
         NF-1   FOXF2   Brachyury   MyoD   Lmo2   E47   FOXJ2 (long isoform)   FOXO1a   FOXJ2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCBFA2T2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CBFA2T2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CBFA2T2


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

Entrez Gene cytogenetic band: 20q11   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11

CBFA2T2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBFA2T2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P032077:  view genomic region     (about GC identifiers)

Start:
32,077,881 bp from pter      End:
32,237,842 bp from pter
Size:
159,962 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MTG8R_HUMAN, O43439 (See protein sequence)
Recommended Name: Protein CBFA2T2  
Size: 604 amino acids; 67133 Da
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
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=AAC19378.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AK307887; Type=Frameshift; Positions=438;
Secondary accessions: B2RAE6 F8W6D7 Q5TGE4 Q5TGE5 Q5TGE6 Q5TGE7 Q8IWF3 Q96B06 Q96L00 Q9H436
Q9UJP8 Q9UJP9 Q9UP24
Alternative splicing: 5 isoforms:  O43439-1   O43439-2   O43439-3   O43439-4   O43439-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CBFA2T2: NX_O43439

Explore proteomics data for CBFA2T2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43439

  • CBFA2T2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CBFA2T2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001028171.1  NP_001034798.1  NP_005084.1  

    ENSEMBL proteins: 
     ENSP00000364428   ENSP00000408352   ENSP00000341865   ENSP00000433270   ENSP00000403795  
     ENSP00000352622   ENSP00000345810   ENSP00000262653   ENSP00000380902   ENSP00000380900  
     ENSP00000443398  

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    Novus Biologicals CBFA2T2 Proteins
    Novus Biologicals CBFA2T2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19026687

    CBFA2T2 for ontologies           About GeneDecksing



    CBFA2T2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZMYND: Zinc fingers, MYND-type

    5 InterPro protein domains:
     IPR002893 Znf_MYND
     IPR014896 NHR2
     IPR013291 MTGR1
     IPR013289 ETO
     IPR003894 TAFH_NHR1

    Graphical View of Domain Structure for InterPro Entry O43439

    ProtoNet protein and cluster: O43439

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


    UniProtKB/Swiss-Prot: MTG8R_HUMAN, O43439
    Similarity: Belongs to the CBFA2T family
    Similarity: Contains 1 MYND-type zinc finger
    Similarity: Contains 1 TAFH (NHR1) domain


    CBFA2T2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTG8R_HUMAN, O43439
    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

         Genatlas biochemistry entry for CBFA2T2:
    core binding factor Runt domain,alpha subunit 2,(RUNX1) translocated to 2,mainly expressed in brain,with several
    isoforms due to alternative promoters,partially overlapping syntrophin alpha (SNT1) and transcribed in opposite
    orientation,homolog to Drosophila nervy

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003714transcription corepressor activity IDA19026687
    GO:0005515protein binding IPI16189514
    GO:0008270zinc ion binding ----
    GO:0046872metal ion binding IEA--
         
    CBFA2T2 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cbfa2t2):
     digestive/alimentary  endocrine/exocrine gland  growth/size  immune system  mortality/aging 

    CBFA2T2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cbfa2t2tm1Swh for CBFA2T2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CBFA2T2 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBFA2T2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CBFA2T2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/23 Interacting proteins for CBFA2T2 (O434391, 2, 3 ENSP000002626534) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    REREQ9P2R62, 3, ENSP000003386294MINT-2866067 I2D: score=3 STRING: ENSP00000338629
    ATN1P542592, 3, ENSP000003490764MINT-2866029 MINT-2866010 I2D: score=3 STRING: ENSP00000349076
    MDFIQ997501, 3, ENSP000002303214EBI-748628,EBI-724076 I2D: score=5 STRING: ENSP00000230321
    CBFA2T3O750813, ENSP000002686794I2D: score=3 STRING: ENSP00000268679
    RUNX1Q011963, ENSP000003003054I2D: score=3 STRING: ENSP00000300305
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0010976positive regulation of neuron projection development IDA19026687
    GO:0010977negative regulation of neuron projection development ISS--
    GO:0030855epithelial cell differentiation IEA--
    GO:0045892negative regulation of transcription, DNA-dependent IEA--

    CBFA2T2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CBFA2T2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CBFA2T2 (MTG8R)

    2 Novoseek inferred chemical compound relationships for CBFA2T2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 50.8 2 1351056 (1)
    tyrosine 33.4 2 9174058 (1)

    Search CenterWatch for drugs/clinical trials and news about CBFA2T2 / MTG8R

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CBFA2T2 gene (4 alternative transcripts): 
    NM_001032999.2  NM_001039709.1  NM_005093.3  NM_175864.1  

    Unigene Cluster for CBFA2T2:

    Core-binding factor, runt domain, alpha subunit 2; translocated to, 2
    Hs.153934  [show with all ESTs]
    Unigene Representative Sequence: NM_005093
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471007 ENST00000375279(uc002wzi.1) ENST00000417366 ENST00000344201(uc021wbz.1)
    ENST00000492345(uc002wzf.1) ENST00000454955 ENST00000359606(uc002wzj.1 uc002wzk.1)
    ENST00000491618 ENST00000342704(uc010zug.1 uc002wze.1) ENST00000346541(uc002wzg.1)
    ENST00000397800(uc002wzh.1) ENST00000397798 ENST00000543126
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    Additional mRNA sequence: 

    AB209306.1 AF039200.1 AF052210.1 AF052212.1 AF068266.1 AF069747.1 AK294168.1 AK307887.1 
    AK314159.1 BC015066.1 BC016298.2 BC040344.2 CR749462.1 GU070940.1 GU086368.1 

    23 DOTS entries:

    DT.87017499  DT.100662810  DT.100762989  DT.120833011  DT.100762990  DT.405323  DT.91666272  DT.92435571 
    DT.80100281  DT.120833078  DT.120833029  DT.100772239  DT.120832922  DT.86836535  DT.120832911  DT.120832912 
    DT.120832931  DT.120832974  DT.91745577  DT.95190837  DT.97818546  DT.120833073  DT.120833085 

    24/287 AceView cDNA sequences (see all 287):

    AF068266 T07993 AW193834 BQ953636 BU163137 AA775607 CB156914 AI384075 
    AW025656 AI368004 BP431517 AI810902 BQ003927 AI948413 BX507059 AA962300 
    CB961986 AI631186 Z39103 NM_005093 Z38941 AF039200 BM829480 BQ109581 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for CBFA2T2 (see all 11)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^
    SP1:                                -                                               -           -     -     -     -                                             
    SP2:                                      -                                         -           -     -     -     -                                             
    SP3:                                -     -                                         -           -     -     -     -                                             
    SP4:                    -     -     -     -                                         -                                                                           
    SP5:                                                                                -                 -     -     -                                             

    ExUns: 16a · 16b ^ 17
    SP1:                  
    SP2:        -         
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for CBFA2T2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CBFA2T2 expression in normal human tissues (normalized intensities)      CBFA2T2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCGCTGGTG
    CBFA2T2 Expression
    About this image


    CBFA2T2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 4 entries
             sensory organ/nose/nasal cavity   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             sensory organ/eye/cornea   
     
     Neural Crest (Sensory Organs)
             sensory organ/nose/vomeronasal organ   

    See CBFA2T2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CBFA2T2

    SOURCE GeneReport for Unigene cluster: Hs.153934

    UniProtKB/Swiss-Prot: MTG8R_HUMAN, O43439
    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

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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CBFA2T2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cbfa2t21 , 5 core-binding factor, runt domain, alpha subunit 2, more1, 5 89.56(n)1
    96.63(a)1
      2 (76.62 cM)5
    123961  NM_172860.21  NP_766448.11 
     1544364815 
    chicken
    (Gallus gallus)
    Aves CBFA2T21 core-binding factor, runt domain, alpha subunit 2; more 76.88(n)
    85.1(a)
      419155  NM_001011689.1  NP_001011689.1 
    lizard
    (Anolis carolinensis)
    Reptilia CBFA2T26
    core-binding factor, runt domain, alpha subunit 2;...
    76(a)
    1 ↔ 1
    4(136410959-136507090)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC044006.12   -- 74.78(n)    BC044006.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cbfa2t26
    core-binding factor, runt domain, alpha subunit 2;...
    67(a)
    1 ↔ 1
    6(57584825-57605111)
    fruit fly
    (Drosophila melanogaster)
    Insecta nvy6
    nervy
    20(a)
    1 → many
    2R(20163258-20178607)


    ENSEMBL Gene Tree for CBFA2T2 (if available)
    TreeFam Gene Tree for CBFA2T2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CBFA2T2 gene
    DEAF12  CBFA2T32  RUNX1T12  
    5 SIMAP similar genes for CBFA2T2 using alignment to 4 protein entries:     MTG8R_HUMAN (see all proteins):
    DKFZp313F2116    RUNX1/CBFA2T2 fusion    MTG8    RUNX1T1    CBFA2T3

    CBFA2T2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3163 SNPs in CBFA2T2 are shown (see all 3163)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2020091591,2
    C--32075941(+) CTACA-/TTTTTT 1 -- us2k10--------
    rs802306641,2
    F--32076014(+) GAGTAC/TATTGG 1 -- us2k10--------
    rs1857909241,2
    --32076108(+) GCGTGG/TGTGCA 1 -- us2k10--------
    rs1910295001,2
    --32076201(+) TCAAGC/TGATCC 1 -- us2k10--------
    rs1811671181,2
    --32076260(+) TACCCA/GGCCGG 1 -- us2k10--------
    rs1385743561,2
    C--32076378(+) TTATTA/CTTTTC 1 -- us2k10--------
    rs1857546981,2
    --32076419(+) GCCCAC/GGCTAG 1 -- us2k10--------
    rs1905679021,2
    --32076423(+) AGGCTA/GGAGTG 1 -- us2k10--------
    rs60882381,2
    C,H--32076480(+) agcgaT/Ctctcc 1 -- us2k18Minor allele frequency- C:0.07NA WA CSA 15
    rs1831395251,2
    --32076609(+) GTGCAA/GTGTCG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CBFA2T2 (32077881 - 32237842 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CBFA2T2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2722353CNV Deletion23290073
    esv2660082CNV Deletion23128226
    esv2672530CNV Deletion23128226
    nsv833960CNV Loss17160897
    esv24338CNV Loss19812545
    nsv833961CNV Loss17160897
    nsv522690CNV Loss19592680


    Human Gene Mutation Database (HGMD): CBFA2T2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603672    OMIM disorders: --

    7 diseases for CBFA2T2:    About MalaCards
    acute myeloid leukemia    myeloid leukemia    polycythemia    leukemia
    hodgkin's lymphoma    prostatitis    neuronitis


    CBFA2T2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for CBFA2T2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemogenesis 61.8 2 11986952 (1), 9447981 (1)
    lymphoma 7.82 2 11986952 (2)


    Export disorders for CBFA2T2 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)
    About This Section

    PubMed articles for CBFA2T2 gene, integrated from 9 sources (see all 44):
    (articles sorted by number of sources associating them with CBFA2T2)
        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. (1998)
    2. Structure and expression pattern of a human MTG8/ETO family gene, MTGR1. (PubMed id 10675041)1, 2, 9 Morohoshi F.... Ohki M. (2000)
    3. The AML1-MTG8 leukemic fusion protein forms a complex with a novel member of the MTG8(ETO/CDR) family, MTGR1. (PubMed id 9447981)1, 2, 9 Kitabayashi I.... Ohki M. (1998)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t(16; 21)-positive myeloid malignancies. (PubMed id 12242670)1, 2 Hoogeveen A.T.... Sacchi N. (2002)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias. (PubMed id 9787195)1, 2 Fracchiolla N.S.... Neri A. (1998)
    8. Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins. (PubMed id 14703694)1, 9 Lindberg S.R....Olsson I. (2003)
    9. Loss of function genetic screens reveal MTGR1 as an intracellular repressor of beta1 integrin-dependent neurite outgrowth. (PubMed id 19026687)1, 9 Ossovskaya V.S....Basbaum A.I. (2009)
    10. Transcriptional repression by leukaemia-associated ETO family members can be independent of oligomerization and coexpressed hSIN3B and N-CoR. (PubMed id 18586123)1, 9 Olsson A....Dhanda R.S. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9139 HGNC: 1536 AceView: CBFA2T2 Ensembl:ENSG00000078699 euGenes: HUgn9139
    ECgene: CBFA2T2 H-InvDB: CBFA2T2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CBFA2T2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CBFA2T2 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
    Patent Information for CBFA2T2 gene:
    Search GeneIP for patents involving CBFA2T2

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



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