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TBX2 Gene

protein-coding   GIFtS: 63

GC17P056832
T-box 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
FLJ10169 2
Descriptions
T-box 2 2
T-box protein 2 3
External Ids
HGNC: 115971
Entrez Gene: 69092
UniProtKB: Q132073
Ensembl: ENSG000001210687
Search outside databases for aliases for TBX2 gene

Previous GC identifers: GC17P059241 GC17P061963 GC17P059819 GC17P059951

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

EntrezGene summary for TBX2:
This gene is a member of a phylogenetically conserved family of genes that share a common
DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation
of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares
strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene
may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due
to alternative polyadenylation has been noted for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: TBX2_HUMAN, Q13207
Function: Involved in the transcriptional regulation of genes required for mesoderm
differentiation. Probably plays a role in limb pattern formation

Gene Wiki entry for TBX2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the TBX2 gene  

Entrez Gene cytogenetic band: 17q23   Ensembl cytogenetic band:  17q23.2   HGNC cytogenetic band: 17q23

TBX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P056832:     (about GC identifiers)

Start:
56,832,039 bp from pter
End:
56,841,609 bp from pter
Size:
9,571 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000017.9  NT_010783.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: TBX2_HUMAN, Q13207 (See protein sequence)
Recommended Name: T-box transcription factor TBX2  
Size: 702 amino acids; 74068 Da
Subcellular location: Nucleus (Potential)
Secondary accessions: Q16424 Q7Z647

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_005985.3  

    ENSEMBL proteins: 
    ENSP00000240328 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Tbx2)
    Human Recombinant Proteins from Abnova (TBX2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005667 transcription factor complex IEA--
    About this table

    Antibodies for TBX2: 
    Invitrogen Antibodies for TBX2
    Millipore Mono- and Polyclonal Antibodies for the study of TBX2
    Sigma-Aldrich Antibodies for TBX2
    R&D Systems Antibodies for TBX2
    Antibodies from Abcam (Tbx2), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (TBX2)
    Novus Biologicals Antibodies for TBX2

    Assays for TBX2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR001699 TF_T-box
     IPR002070 TF_Brachyury
     IPR018186 TF_T-box_CS


       GeneDecks  TBX2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q13207

    ProtoNet protein and cluster: Q13207

    2 Blocks protein families:
    IPB001699 Transcription factor
    IPB002070 Brachyury protein family signature


    UniProtKB/Swiss-Prot: TBX2_HUMAN, Q13207
    Similarity: Contains 1 T-box DNA-binding domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (TBX2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (TBX2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005994

                  Applied Biosystems Silencer® siRNAs for TBX2

                  Sigma-Aldrich siRNA for TBX2  
                         Sigma-Aldrich shRNA for TBX2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for TBX2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_005994
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_005994
                                     untagged cDNA clone in CMV expression vector: NM_005994 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_005994

    UniProtKB/Swiss-Prot: TBX2_HUMAN, Q13207
    Function: Involved in the transcriptional regulation of genes required for mesoderm
    differentiation. Probably plays a role in limb pattern formation

    Genatlas biochemistry entry for TBX2:
    murine T-box gene Tbx2 (T,brachyury) homolog,with homology to Drosophila,Trg,expressed in
    placenta,fetal and adult lung,kidney,adult ovary,prostate,spleen,testis,involved in developmental
    regulation

    6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tbx2):

    craniofacialembryogenesishomeostasis/metabolismlethality-prenatal/perinatal
    limbs/digits/tail

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700 transcription factor activity IEA--
    GO:0005515 protein binding IEA--
    GO:0016564 transcription repressor activity IDA10468588 11111039
    GO:0043565 sequence-specific DNA binding IDA11111039
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  TBX2 


    5/11 Interacting proteins for TBX2 (ENSP000002403283) via UniProtKB, MINT, and/or STRING (see all 11 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NKX2-5ENSP000003277583STRING (score=.991)
    SHHENSP000002972613STRING (score=.963)
    GJA1ENSP000002825613STRING (score=.948)
    HEY2ENSP000003573483STRING (score=.924)
    HEY1ENSP000003382723STRING (score=.92)
    About this table

    5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0003007 heart morphogenesis IEA--
    GO:0007275 multicellular organismal development IEA--
    GO:0007521 muscle cell fate determination IEA--
    GO:0007569 cell aging IDA11748239
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for TBX2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (TBX2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (TBX2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005994

                  Sigma-Aldrich siRNA for TBX2  
                         Sigma-Aldrich shRNA for TBX2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_005994  

    REFSEQ mRNAs for TBX2 gene: 

    NM_005994.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_005994  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_005994
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_005994
                                     untagged cDNA clone in CMV expression vector: NM_005994 

    Additional cDNA sequence: 

    AK001031.1 AK127429.1 AL832900.1 BC052566.1 BC070054.1 CR615365.1 CR620143.1 S81264.1 
    U28049.1 

    8 DOTS entries:

    DT.80101718  DT.100751985  DT.97846791  DT.99975646  DT.100771118  DT.100743454  DT.86855164  DT.95076973 

    24/118 AceView cDNA sequences (see all 118 ):

    BM707637 BQ883284 BE670348 CR620143 AI200289 BM678321 BM985069 BM713401 
    BC052566 AI572360 CR615365 BE048856 NM_005994 AI656691 BM725621 BM925013 
    CA488028 BQ709839 AI632760 BM971063 AI628781 AW300325 AA909667 AI804773 

    highest scoring ESTs for TBX2:

    AW006595 U28049 AA099257 AA360001 AI202279 AI241297 AI244102 AI245020 AI968510 AK001031 

    Unigene Cluster for TBX2:

    T-box 2
    Hs.531085  [show with all ESTs]
    Unigene Representative Sequence: AK127429


    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TBX2

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
    SP1:                    -                             -                     
    SP2:                    -                                                   
    SP3:                                                                        
    SP4:        -     -     -     -     -     -     -     -     -               

    About this scheme

    ECgene alternative splicing isoforms for TBX2

    1 Ensembl transcript including schematic representation:
    ENST00000240328  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    TBX2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for TBX2

    1 / 2 / 3

    8 probe-sets matching TBX2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    40560_at2, 3 U133-A 1 1.00 1.00 0.95 1.10 U28049 1.00 1.00 1.00 1
    73340_f_at2, 3 U95-E 2 1.00 0.97 0.94 0.91 AW006595 1.00 1.00 1.00 1

    213417_at2, 3 U133-A 1 1.00 1.00 -- -- AW173045 0.60 1.00 0.82 1

    205993_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005994 0.60 1.00 0.82 1
    40560_at2, 3 U133-A 1 1.00 1.00 -- -- U28049 1.00 1.00 1.00 1

    213417_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    205993_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    40560_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  TBX2 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GCAGCAGCAG

    SOURCE GeneReport for Unigene cluster: Hs.531085

    Expression variation in blood from EXPOLDB for TBX2

    UniProtKB/Swiss-Prot: TBX2_HUMAN, Q13207
    Tissue specificity: Expressed primarily in adult in kidney, lung, and placenta. Weak expression in
    heart and ovary

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for TBX2 gene from 5/12 species (see all 12 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    TBX21   -- T-box 2 91.68(n)
    96.43(a)
    448779  NM_001005249.1  NP_001005249.1 
    chimpanzee
    (Pan troglodytes)
    TBX21   -- T-box 2 99.67(n)
    100(a)
    454800  XM_511610.2  XP_511610.2 
    rat
    (Rattus norvegicus)
    Tbx21   -- T-box 2 86.99(n)
    91.59(a)
    303398  XM_220810.4  XP_220810.4 
    mouse
    (Mus musculus)
    Tbx21, 5 11 (49.00 cM)5
    T-box 21, 5 89.89(n)1
    95.57(a)1
    213851  NM_009324.21  NP_033350.21 
     AF2449175  AI2566455  (see all 15)
    zebrafish
    (Danio rerio)
    tbx2b2   -- T-box 2b 75.17(n) 30253  BC051603.1 
    About this table        Species with no ortholog for TBX2

    ENSEMBL Gene Tree for TBX2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for TBX2 gene
    TBX32  TBX62  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/99 NCBI SNPs in TBX2 are shown (see all 99 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 63)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs7297811,2
    A,C,F56841581(-) TTTCTC/TGCGTT 1 -- ut31 ese31Minor allele frequency- T:0.27MN 184
    --
    rs31985871,2
    A,C,F56841406(+) GGCTGG/CGGGGG 1 -- ut311Minor allele frequency- C:0.03MN 184
    rs10580041,2
    A,C,F56841514(+) TCGCCT/CGGCCC 1 -- ut31 ese31Minor allele frequency- C:0.28MN 184
    rs14767811,2
    A,C,F56831197(-) AGCGGG/ATCCTC 1 -- ng511Minor allele frequency- A:0.23MN 184
    rs7297821,2
    A,C,F56841555(-) TCGCTC/GCGGAG 1 -- ut31 ese31Minor allele frequency- G:0.09MN 184
    rs10004231,2
    A,C,F56830424(+) GTCGGC/TCCCGA 1 -- ng514Minor allele frequency- T:0.17NA PA 336
    rs44550261,2
    A,C56831292(+) CGCGGC/GTAGGG 1 -- ng510--------
    --
    rs21090191,2
    A,C56830670(-) GTCGTA/C/G/
            
    TTCTG
    1 -- ng510--------
    --
    rs99056421,2
    A,C56830048(+) CACACA/GCGCGC 1 -- ng510--------
    --
    rs20781691,2
    C56830844(-) GATGgG/Tgtgtg 1 -- ng510--------
    About this table

    HapMap Linkage Disequilibrium images for TBX2 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 600747

    2 Novoseek disease relationships for TBX2 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 39.55 17 15781639 (4), 17700536 (2), 18829543 (2), 18025091 (1) (see all 5)
    cancer 28.69 5 19052953 (1), 16730707 (1), 18025091 (1), 18640248 (1) (see all 5)
    About this table

    Human Genome Epidemiology Navigator: TBX2 (3 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/41 PubMed articles for TBX2 gene (see all 41 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 6909 HGNC: 11597 AceView: TBX2 Ensembl:ENSG00000121068 euGenes: HUgn6909
    ECgene: TBX2 H-InvDB: TBX2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for TBX2 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for TBX2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for TBX2 Antibodies for TBX2
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for TBX2 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Antibodies for TBX2

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