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

RUNX1T1 Gene

protein-coding   GIFtS: 59
GCID: GC08M092971

Runt-Related Transcription Factor 1; Translocated To, 1...

(Previous names: core-binding factor, runt domain, alpha subunit 2; translocated...)
(Previous symbols: AML1T1, CBFA2T1)
Microbiology & Infectious Diseases Congress
  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
Runt-Related Transcription Factor 1; Translocated To, 1 (Cyclin
D-Related)1 2
     MTG82 3
AML1T11 2 3 5     ZMYND22 3
CBFA2T11 2 3 5     Acute Myelogenous Leukemia 1 Translocation 1, Cyclin-D Related2
ETO2 3 5     Myeloid Translocation Gene On 8q222
Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To, 1;
Cyclin D-Related1 2
     Protein CBFA2T12
Eight Twenty One Protein2 3     Cyclin-D-Related Protein3
Zinc Finger MYND Domain-Containing Protein 22 3     Protein ETO3
CDR2 3     Protein MTG83

External Ids:    HGNC: 15351   Entrez Gene: 8622   Ensembl: ENSG000000791027   OMIM: 1334355   UniProtKB: Q064553   

Export aliases for RUNX1T1 gene to outside databases

Previous GC identifers: GC08M093041 GC08M088178


(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 RUNX1T1 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(8;21)(q22;q22)
translocation is one of the most frequent 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. The chimeric protein is thought to associate with the nuclear corepressor/histone
deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Nov 2010)

GeneCards Summary for RUNX1T1 Gene: 
RUNX1T1 (runt-related transcription factor 1; translocated to, 1 (cyclin D-related)) is a protein-coding gene. Diseases associated with RUNX1T1 include refractory anemia with excess blasts, and acute myeloid leukemia with t translocation, and among its related super-pathways are Endometrial cancer. GO annotations related to this gene include identical protein binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DEAF1.

UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455
Function: Transcription regulator that excerts its function by binding to histone deacetylases and transcription
factors. Can repress transactivation mediated by TCF12

Gene Wiki entry for RUNX1T1 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_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RUNX1T1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRUNX1T1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RUNX1T1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RUNX1T1


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

Entrez Gene cytogenetic band: 8q22   Ensembl cytogenetic band:  8q21.3   HGNC cytogenetic band: 8q22

RUNX1T1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RUNX1T1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M092971:  view genomic region     (about GC identifiers)

Start:
92,967,195 bp from pter      End:
93,115,514 bp from pter
Size:
148,320 bases      Orientation:
minus 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: MTG8_HUMAN, Q06455 (See protein sequence)
Recommended Name: Protein CBFA2T1  
Size: 604 amino acids; 67566 Da
Subunit: Homotetramer. Heterotetramer with CBFA2T2 and CBFA2T3. Interacts with TCF12, SIN3A, HDAC1, HDAC2, HDAC3,
NCOR1 and NCOR2. Interacts with ATN1 (via its N-terminus); the interaction enhances the transcriptional
repression
Subcellular location: Nucleus. Note=Colocalizes with ATN1 in discrete nuclear dots
Sequence caution: Sequence=AAH05850.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA03247.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
6/8 PDB 3D structures from and Proteopedia for RUNX1T1 (see all 8):
1WQ6 (3D)        2DJ8 (3D)        2H7B (3D)        2KNH (3D)        2KYG (3D)        2OD1 (3D)    
Secondary accessions: B7Z4P4 E7EPN4 O14784 Q06456 Q14873 Q16239 Q16346 Q16347 Q6IBL1 Q6NXH1
Q7Z4J5 Q92479 Q9BRZ0
Alternative splicing: 4 isoforms:  Q06455-1   Q06455-2   Q06455-3   Q06455-4   

Explore the universe of human proteins at neXtProt for RUNX1T1: NX_Q06455

Explore proteomics data for RUNX1T1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q06455

  • RUNX1T1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RUNX1T1 Protein Expression
    REFSEQ proteins (15 alternative transcripts): 
    NP_001185554.1  NP_001185555.1  NP_001185556.1  NP_001185557.1  NP_001185558.1  NP_001185559.1  NP_001185560.1  NP_001185561.1  
    NP_001185562.1  NP_001185563.1  NP_001185608.1  NP_004340.1  NP_783552.1  NP_783553.1  NP_783554.1  

    ENSEMBL proteins: 
     ENSP00000428543   ENSP00000379520   ENSP00000353504   ENSP00000390137   ENSP00000428742  
     ENSP00000430728   ENSP00000430778   ENSP00000429085   ENSP00000430863   ENSP00000429728  
     ENSP00000431094   ENSP00000427763   ENSP00000430204   ENSP00000429940   ENSP00000429532  
     ENSP00000429506   ENSP00000430637   ENSP00000428100   ENSP00000429137   ENSP00000430070  
     ENSP00000429118   ENSP00000430084   ENSP00000428475   ENSP00000429653   ENSP00000429062  
     ENSP00000429666   ENSP00000429587   ENSP00000429034   ENSP00000429375   ENSP00000429864  
     ENSP00000428297   ENSP00000430080   ENSP00000430334   ENSP00000429857   ENSP00000428408  
     ENSP00000428133   ENSP00000402257   ENSP00000265814  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0016363nuclear matrix IDA10973986

    RUNX1T1 for ontologies           About GeneDecksing



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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
     IPR013290 MTG8
     IPR013289 ETO
     IPR003894 TAFH_NHR1

    Graphical View of Domain Structure for InterPro Entry Q06455

    ProtoNet protein and cluster: Q06455

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


    UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455
    Domain: The TAFH domain mediates interaction with transcription regulators
    Similarity: Belongs to the CBFA2T family
    Similarity: Contains 1 MYND-type zinc finger
    Similarity: Contains 1 TAFH (NHR1) domain


    RUNX1T1 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: MTG8_HUMAN, Q06455
    Function: Transcription regulator that excerts its function by binding to histone deacetylases and transcription
    factors. Can repress transactivation mediated by TCF12

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI10973986
    GO:0008270zinc ion binding ----
    GO:0042802identical protein binding IPI16616331
         
    RUNX1T1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RUNX1T1:
     Increased G2M DNA content 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Runx1t1):
     behavior/neurological  cardiovascular system  digestive/alimentary  growth/size  integument 
     mortality/aging  normal  reproductive system 

    RUNX1T1 for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RUNX1T1 
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    (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

    SuperPaths for RUNX1T1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Endometrial cancer
    Acute myeloid leukemia0.40
    2Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    3Lymphocyte Signaling
    Lymphocyte Signaling
    4Pathways in cancer
    Pathways in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for RUNX1T1
        Lymphocyte Signaling


    3         Kegg Pathways  (Kegg details for RUNX1T1):
        Pathways in cancer
    Transcriptional misregulation in cancer
    Acute myeloid leukemia


    RUNX1T1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RUNX1T1

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

    5/61 Interacting proteins for RUNX1T1 (Q064551, 2, 3 ENSP000002658144) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATN1P542592, 3, ENSP000003490764MINT-2857407 I2D: score=4 STRING: ENSP00000349076
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2857388 I2D: score=3 STRING: ENSP00000357292
    TCF12Q990813, ENSP000003310574I2D: score=6 STRING: ENSP00000331057
    ABI3Q9P2A43, ENSP000002259414I2D: score=4 STRING: ENSP00000225941
    HDAC3O153793, ENSP000003029674I2D: score=4 STRING: ENSP00000302967
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006091generation of precursor metabolites and energy TAS9618262
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0045444fat cell differentiation IEA--
    GO:0051101regulation of DNA binding IEA--

    RUNX1T1 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

    RUNX1T1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RUNX1T1 (MTG8)

    5 Novoseek inferred chemical compound relationships for RUNX1T1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 32.2 9 15109542 (2), 8334990 (1), 15377655 (1), 7812194 (1) (see all 6)
    proline 3.33 2 7812194 (1)
    oligonucleotide 0 1 8499624 (1)
    threonine 0 3 10076566 (2), 8781439 (1)
    serine 0 3 10076566 (2), 8781439 (1)

    Search CenterWatch for drugs/clinical trials and news about RUNX1T1 / MTG8

    (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 RUNX1T1 gene (15 alternative transcripts): 
    NM_001198625.1  NM_001198626.1  NM_001198627.1  NM_001198628.1  NM_001198629.1  NM_001198630.1  NM_001198631.1  NM_001198632.1  
    NM_001198633.1  NM_001198634.1  NM_001198679.1  NM_004349.3  NM_175634.2  NM_175635.2  NM_175636.2  

    Unigene Cluster for RUNX1T1:

    Runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
    Hs.368431  [show with all ESTs]
    Unigene Representative Sequence: NM_001198625
    18/47 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 47):
    ENST00000523629(uc010man.2 uc003yfb.2 uc003yfc.2 uc010mam.3 uc003yfe.2 uc003yfd.3 uc022axo.1 uc010mao.3 uc011lgi.2 uc022axp.1 uc022axq.1 uc022axr.1 uc022axs.1 uc022axt.1 uc022axu.1 uc022axv.1)
    ENST00000396218 ENST00000360348 ENST00000422361(uc003yfg.2) ENST00000520724
    ENST00000521078 ENST00000518844 ENST00000521751 ENST00000520978 ENST00000518361
    ENST00000520047 ENST00000521553(uc003yff.1) ENST00000522316 ENST00000518992
    ENST00000521054 ENST00000523290 ENST00000519847 ENST00000517792
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF018283.1 AF131817.1 AK297616.1 AK312592.1 AL049240.1 BC005850.1 BC067078.1 BT009871.1 
    CR456792.1 D14289.1 D14821.1 D43638.1 S82690.1 X79990.1 Z35296.1 

    24/27 DOTS entries (see all 27):

    DT.95267502  DT.121484056  DT.95267501  DT.95267503  DT.92474135  DT.92474122  DT.65285691  DT.121484123 
    DT.121484036  DT.121484082  DT.121484113  DT.300587  DT.92474131  DT.121484027  DT.121484088  DT.215536 
    DT.100023769  DT.121484092  DT.121484105  DT.95207072  DT.121484035  DT.121484103  DT.121484135  DT.406088 

    24/83 AceView cDNA sequences (see all 83):

    AA904353 BT009871 AL599454 N75054 BC067078 H46979 NM_175636 AI804854 
    CA844294 BQ632275 NM_175635 NM_004349 NM_175634 AI264845 AU117637 AK057707 
    CA844355 H94855 CR619328 H80492 AA992855 F02579 AL536357 CA848975 

    GeneLoc Exon Structure

    5/26 Alternative Splicing Database (ASD) splice patterns (SP) for RUNX1T1 (see all 26)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f ^ 10a · 10b ·
    SP1:                                                                          -     -     -     -     -     -     -     -                                       
    SP2:                                                        -     -     -     -     -     -     -     -     -     -     -                                       
    SP3:                                                                                                        -     -     -                                       
    SP4:                                                                                                                                                            
    SP5:                                -     -     -           -                 -     -     -     -     -     -     -     -                                       

    ExUns: 10c · 10d · 10e · 10f · 10g ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
    SP1:                                      -                 -                                             
    SP2:                                      -                 -                                             
    SP3:                                      -                 -                                             
    SP4:                                      -                 -                                             
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for RUNX1T1

    (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

    RUNX1T1 expression in normal human tissues (normalized intensities)      RUNX1T1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTTGTCAG
    RUNX1T1 Expression
    About this image


    RUNX1T1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             superior temporal gyrus   
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             limb/hindlimb   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem Z11, Meso Progenitor
             skeleton/axial skeleton   

    See RUNX1T1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RUNX1T1

    SOURCE GeneReport for Unigene cluster: Hs.368431

    UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455
    Tissue specificity: Most abundantly expressed in brain. Lower levels in lung, heart, testis and ovary

        SABiosciences Expression via Pathway-Focused PCR Array including RUNX1T1: 
              Adipogenesis in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUNX1T1

    (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 RUNX1T1 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Runx1t11 , 5 runt-related transcription factor 1; translocated to, more1, 5 91.9(n)1
    99.13(a)1
      4 (5.88 cM)5
    123951  NM_001111027.11  NP_001104497.11 
     137434365 
    chicken
    (Gallus gallus)
    Aves RUNX1T11 runt-related transcription factor 1; translocated to, more 89.29(n)
    96.87(a)
      395503  NM_204744.1  NP_990075.1 
    lizard
    (Anolis carolinensis)
    Reptilia RUNX1T16
    runt-related transcription factor 1; translocated ...
    93(a)
    1 ↔ 1
    4(17706169-17848839)
    zebrafish
    (Danio rerio)
    Actinopterygii wufj53h112 Transcribed sequence with strong similarity to protein more 78.35(n)    57077045 
    fruit fly
    (Drosophila melanogaster)
    Insecta nvy6
    nervy
    22(a)
    1 → many
    2R(20163258-20178607)


    ENSEMBL Gene Tree for RUNX1T1 (if available)
    TreeFam Gene Tree for RUNX1T1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RUNX1T1 gene
    DEAF12  CBFA2T32  CBFA2T22  
    4 SIMAP similar genes for RUNX1T1 using alignment to 26 protein entries:     MTG8_HUMAN (see all proteins):
    MTG8    RUNX1/CBFA2T2 fusion    CBFA2T2    CBFA2T3

    RUNX1T1 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

    10/2605 SNPs in RUNX1T1 are shown (see all 2605)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363224
    A colorectal cancer sample4--see VAR_0363222 R W mis40--------
    VAR_0363234
    A colorectal cancer sample4--see VAR_0363232 A V mis40--------
    VAR_0363214
    A colorectal cancer sample4--see VAR_0363212 R W mis40--------
    rs38325641,2
    C--88176753(-) AAAAAA/-TCCCT 15 -- ut313Minor allele frequency- -:0.17NA 6
    rs354866851,2
    C--88210437(+) AAAAAT/-ATCAA 15 -- int13Minor allele frequency- -:0.17NA CSA 6
    rs680058401,2
    C--88210438(+) AAAAA-/TTCAAA 15 -- int10--------
    rs1119661171,2
    C,F--88246496(+) AAAAAG/CAAAAA 14 -- int11Minor allele frequency- C:0.50NA 2
    rs350946381,2
    C--88280232(+) TTGAT-/GAGAGAG 14 -- int10--------
    rs340447701,2
    C--92970968(+) AAAAA-/A/AA  
            
    AAAAA
    30 -- ut311NA 2
    rs588357521,2
    C--92971104(+) AAGAG-/AGTGAAA 15 -- ut310--------

    HapMap Linkage Disequilibrium report for RUNX1T1 (92967195 - 93115514 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RUNX1T1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv891193CNV Loss21882294


    Human Gene Mutation Database (HGMD): RUNX1T1
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing RUNX1T1:
    Prostate Cancer
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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: 133435    OMIM disorders: --

    UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455
  • Note=A chromosomal aberration involving RUNX1T1 is a cause of acute myeloid leukemia (AML-M2).
    Translocation t(8;21)(q22;q22) with RUNX1/AML1
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from
    the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with
    progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon
    and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The disease
    may be caused by mutations affecting the gene represented in this entry

  • 20/22 diseases for RUNX1T1 (see all 22):    About MalaCards
    refractory anemia with excess blasts    acute myeloid leukemia with t translocation    acute myeloid leukemia    myeloid leukemia
    refractory anemia    leukemia    williams-beuren syndrome    acute leukemia
    chronic myeloid leukemia    muscular dystrophy    cytochrome p450    b-cell lymphomas
    pneumonia    mental retardation    lymphoblastic leukemia    anemia
    obesity    ovarian cancer    melanoma    colorectal cancer

    1 disease from the University of Copenhagen DISEASES database for RUNX1T1:
    Leukemia

    RUNX1T1 for disorders           About GeneDecksing

    10/11 Novoseek inferred disease relationships for RUNX1T1 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemogenesis 78.5 2 10076566 (1), 8781439 (1)
    minimal residual disease 64 1 7553157 (1)
    leukemia 62.5 11 15723339 (2), 15231665 (1), 16893685 (1), 17572682 (1) (see all 8)
    chromosomal aberrations 55.7 2 15231665 (1), 8427996 (1)
    myeloid leukemia 54.6 2 17572682 (1), 10675041 (1)
    aml childhood 52.2 2 12557226 (1)
    hematologic malignancies 47.3 1 14551142 (1)
    promyelocytic leukemia 41.9 2 10688654 (1), 10951564 (1)
    acute leukemia 36.2 1 14551142 (1)
    leukemia promyelocytic acute 23.5 1 14551142 (1)

    Genetic Association Database (GAD): RUNX1T1

    Export disorders for RUNX1T1 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 RUNX1T1 gene, integrated from 9 sources (see all 204):
    (articles sorted by number of sources associating them with RUNX1T1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of two transcripts of AML1/ETO-fused gene in t(8;21) leukemic cells and expression of wild-type ETO gene in hematopoietic cells. (PubMed id 7541640)1, 2, 9 Era T.... Takatsuki K. (1995)
    2. A TAF4-homology domain from the corepressor ETO is a docking platform for positive and negative regulators of transcription. (PubMed id 17572682)1, 2, 9 Wei Y.... Werner M.H. (2007)
    3. Structure and expression of the human MTG8/ETO gene. (PubMed id 9661669)1, 2, 9 Wolford J.K. and Prochazka M. (1998)
    4. CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family. (PubMed id 9790752)1, 3, 9 Calabi F. and Cilli V. (1998)
    5. The t(8;21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript. (PubMed id 8334990)1, 2, 9 Miyoshi H.... Ohki M. (1993)
    6. Transcriptionally active chimeric gene derived from the fusion of the AML1 gene and a novel gene on chromosome 8 in t(8;21) leukemic cells. (PubMed id 1423235)1, 2, 9 Nisson P.E.... Sacchi N. (1992)
    7. The tetramer structure of the Nervy homology two domain, NHR2, is critical for AML1/ETO's activity. (PubMed id 16616331)1, 2 Liu Y....Bushweller J.H. (2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. 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)
    10. 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)

    (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: 862 HGNC: 1535 AceView: CBFA2T1 Ensembl:ENSG00000079102 euGenes: HUgn862
    ECgene: RUNX1T1 Kegg: 862 H-InvDB: RUNX1T1

    (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 RUNX1T1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RUNX1T1 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 RUNX1T1 gene:
    Search GeneIP for patents involving RUNX1T1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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