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

TBX2 Gene

protein-coding   GIFtS: 61
GCID: GC17P059477

T-Box 2

  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
T-Box 21 2
T-Box Protein 22 3
T-Box Transcription Factor TBX22

External Ids:    HGNC: 115971   Entrez Gene: 69092   Ensembl: ENSG000001210687   OMIM: 6007475   UniProtKB: Q132073   

Export aliases for TBX2 gene to outside databases

Previous GC identifers: GC17P059241 GC17P061963 GC17P059819 GC17P059951 GC17P056832 GC17P054844


(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 TBX2 Gene:
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,
Jul 2008)

GeneCards Summary for TBX2 Gene: 
TBX2 (T-box 2) is a protein-coding gene. Diseases associated with TBX2 include polyploidy, and tricuspid valve insufficiency. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TBX1.

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. Acts as a negative regulator of PML function in cellular senescence

Gene Wiki entry for TBX2 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_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBX2 gene promoter:
         AREB6   SRF   p53   SRF (504 AA)   STAT5A   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBX2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBX2


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

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

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P059477:  view genomic region     (about GC identifiers)

Start:
59,477,257 bp from pter      End:
59,486,827 bp from pter
Size:
9,571 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: TBX2_HUMAN, Q13207 (See protein sequence)
Recommended Name: T-box transcription factor TBX2  
Size: 712 amino acids; 75066 Da
Subunit: Interacts with PML (isoform-PML-2, isoform PML-3 and isoform PML-4)
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=AAA73861.1; Type=Frameshift; Positions=4; Sequence=AAH52566.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: Q16424 Q7Z647

Explore the universe of human proteins at neXtProt for TBX2: NX_Q13207

Explore proteomics data for TBX2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13207

  • TBX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBX2 Protein Expression
    REFSEQ proteins: NP_005985.3  
    ENSEMBL proteins: 
     ENSP00000240328   ENSP00000404781  

    Human Recombinant Protein Products for TBX2: 
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    Novus Biologicals TBX2 Proteins
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TBX2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15042700
    GO:0005667transcription factor complex IEA--

    TBX2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for TBX2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TBX: T-boxes

    5 InterPro protein domains:
     IPR001699 TF_T-box
     IPR008967 p53-like_TF_DNA-bd
     IPR002070 TF_Brachyury
     IPR018186 TF_T-box_CS
     IPR022582 TBX

    Graphical View of Domain Structure for InterPro Entry Q13207

    ProtoNet protein and cluster: Q13207

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


    UniProtKB/Swiss-Prot: TBX2_HUMAN, Q13207
    Domain: The repression domain 1 (RD1) is necessary for its interaction with PML (PubMed:22002537)
    Similarity: Contains 1 T-box DNA-binding domain


    TBX2 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: TBX2_HUMAN, Q13207
    Function: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably
    plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence

         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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS8530034
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--
    GO:0043565sequence-specific DNA binding IDA11111039
         
    TBX2 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tbx2):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  growth/size 
     homeostasis/metabolism  limbs/digits/tail  mortality/aging  normal 

    TBX2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TBX2: Tbx2tm2.2Vmc Tbx2tm1Pa

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TBX2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBX2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBX2 

    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate TBX2 (see all 23):
    hsa-miR-320a hsa-miR-448 hsa-miR-216b hsa-miR-486-5p hsa-miR-374c hsa-miR-4314 hsa-miR-3908 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidTBX2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX2


    (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 TBX2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Inhibition of Ribosome Biogenesis by p14(ARF)
    Inhibition of Ribosome Biogenesis by p14(ARF)
    2Heart Development
    Heart Development

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TBX2
        Inhibition of Ribosome Biogenesis by p14(ARF)

    1 BioSystems Pathway for TBX2
        Heart Development


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TBX2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for TBX2 (Q132072, 3 ENSP000002403284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGR1P181463, ENSP000002399384I2D: score=2 STRING: ENSP00000239938
    NKX2-5P529523, ENSP000003277584I2D: score=2 STRING: ENSP00000327758
    CEBPEQ157443, ENSP000002065134I2D: score=1 STRING: ENSP00000206513
    LZTR1Q8N6533, ENSP000002157394I2D: score=1 STRING: ENSP00000215739
    PMLP295902MINT-8309401 MINT-8309389
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0003007heart morphogenesis ----
    GO:0003148outflow tract septum morphogenesis ISS--
    GO:0003151outflow tract morphogenesis ISS--
    GO:0003203endocardial cushion morphogenesis ISS--

    TBX2 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBX2

    Search CenterWatch for drugs/clinical trials and news about TBX2

    (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 TBX2 gene: 
    NM_005994.3  

    Unigene Cluster for TBX2:

    T-box 2
    Hs.531085  [show with all ESTs]
    Unigene Representative Sequence: AK127429
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000240328 ENST00000419047(uc010wox.2 uc002izg.3) ENST00000477081(uc002ize.3)
    ENST00000586986
    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate TBX2 (see all 23):
    hsa-miR-320a hsa-miR-448 hsa-miR-216b hsa-miR-486-5p hsa-miR-374c hsa-miR-4314 hsa-miR-3908 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidTBX2 3' UTR sequence
    Inhib. RNA
    Products:
         
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX2
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX2

    Additional mRNA sequence: 

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

    7 DOTS entries:

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

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

    BM713401 BC052566 AI200289 BM985069 BM707637 BM925013 CR620143 BM725621 
    BQ883284 CA488028 AI632760 NM_005994 BE048856 BQ709839 BM678321 AI656691 
    CR615365 BE670348 AI572360 BM974433 BU737413 AW300325 AW468650 AI261732 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for TBX2

    (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

    TBX2 expression in normal human tissues (normalized intensities)      TBX2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGCAGCAG
    TBX2 Expression
    About this image


    TBX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/22 selected tissues (see all 22) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 11 entries
             Cardiomyocytes Left Atrium
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Distal Mesodermal Progenitor Cells Lung Mesoderm
             Human Tracheal Smooth Muscle Cells (HTSMC)   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             Human Urothelial Cells (HUC)   
             visceral organ/urogenital sinus   
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Human Tracheal Smooth Muscle Cells (HTSMC)   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros
             visceral organ/metanephros/nephrogenic zone   

    See TBX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBX2

    SOURCE GeneReport for Unigene cluster: Hs.531085

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including TBX2: 
              Cancer PathwayFinder in human mouse rat
              Cellular Senescence in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX2

    (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 TBX2 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbx21 , 5 T-box 21, 5 89.99(n)1
    95.63(a)1
      11 (51.34 cM)5
    213851  NM_009324.21  NP_033350.21 
     858325515 
    chicken
    (Gallus gallus)
    Aves TBX21 T-box 2 79.21(n)
    81.93(a)
      373990  XM_001235320.2  XP_001235321.2 
    lizard
    (Anolis carolinensis)
    Reptilia TBX36
    Uncharacterized protein
    87(a)
    1 ↔ 1
    LGb(3261512-3267944)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684202 hypothetical protein MGC68420 78.53(n)    BC059285.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbx2b2 T-box 2b 75.17(n)   30253  BC051603.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta bi1 , 3 transcription factor3
    bifid1
    67(a)
    (best of 5)3
    54.08(n)1
    50.17(a)1
      313791  NM_001169191.11  NP_001162662.11 
    worm
    (Caenorhabditis elegans)
    Secernentea tbx-23   -- 61(a)
    (best of 3)
      III(5203006-5204637)   --


    ENSEMBL Gene Tree for TBX2 (if available)
    TreeFam Gene Tree for TBX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBX2 gene
    TBX12  TBX222  TBX192  T2  EOMES2  TBX62  TBX212  TBX202  
    TBX32  TBX52  TBX152  TBR12  TBX42  TBX102  TBX182  
    11 SIMAP similar genes for TBX2 using alignment to 2 protein entries:     TBX2_HUMAN (see all proteins):
    DKFZp762H2012    TBX4    TBX20    TBX18    TBX3    TBX22
    TBX1    T    TBX6    TBX10    TBX5

    TBX2 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

    10/221 SNPs in TBX2 are shown (see all 221)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs664603591,2
    C--59475263(+) ACACA-/CACG  
            
    CGCGC
    1 -- us2k10--------
    rs561311231,2
    C--59475264(+) CACAC-/ACGC  
            
    GCGCG
    1 -- us2k11Minor allele frequency- ACGC:0.00NA 2
    rs1388627451,2
    C--59475265(+) ACACA-/CGCGC 
     GCGCGCG
    CGCGC
    1 -- us2k10--------
    rs1128491931,2
    C--59475807(+) ATGTTGGAT    
       GTG
    /-
    GGATG
    1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs30334911,2
    C--59475813(+) GATGT-/GAGATG
    T
    /GGGATGT
    ACGCG
    1 -- us2k10--------
    rs1120531501,2
    C--59479313(+) GCTTCA/GTGAGT 1 -- spd10--------
    rs8872581,2
    C,F,A,H--59479580(-) TTGACC/GGTACA 1 -- int122Minor allele frequency- G:0.26MN NS EA NA WA CSA 1753
    rs65040421,2
    C,F,A--59479640(+) GGTCAC/ACCTGC 1 -- int12Minor allele frequency- A:0.04CSA WA 120
    rs1463007911,2
    --59479667(+) CCGAGC/GTTGGA 1 -- int10--------
    rs80662271,2
    C,F--59479841(+) GAGGAG/AAGGGT 1 -- int1 trp32Minor allele frequency- A:0.22CSA WA 119

    HapMap Linkage Disequilibrium report for TBX2 (59477257 - 59486827 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for TBX2:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv3241n71CNV Loss21882294
    nsv908663CNV Loss21882294
    dgv3242n71CNV Loss21882294
    dgv43n68CNV Loss17160897
    nsv518130CNV Gain19592680
    dgv536n67CNV Gain20364138


    Human Gene Mutation Database (HGMD): TBX2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TBX2
    DNA2.0 Custom Variant and Variant Library Synthesis for TBX2

    (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: 600747    OMIM disorders: --

    14 diseases for TBX2:    About MalaCards
    polyploidy    tricuspid valve insufficiency    ulnar-mammary syndrome    adrenocortical carcinoma
    microcephaly    kidney disease    retinoblastoma    hypertension
    melanoma    pancreatic cancer    pancreatitis    thyroiditis
    breast cancer    prostatitis


    TBX2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for TBX2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 39.6 18 15781639 (4), 17700536 (2), 18829543 (2), 18025091 (1) (see all 6)
    cancer 28.2 10 19960541 (2), 19469638 (2), 19052953 (1), 16730707 (1) (see all 7)

    Genetic Association Database (GAD): TBX2
    Human Genome Epidemiology (HuGE) Navigator: TBX2 (6 documents)

    Export disorders for TBX2 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 TBX2 gene, integrated from 9 sources (see all 67):
    (articles sorted by number of sources associating them with TBX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene. (PubMed id 8530034)1, 2, 3, 9 Campbell C.... Beatty B. (1995)
    2. Identification, characterization, and localization to chromosome 17q21-22 of the human TBX2 homolog, member of a conserved developmental gene family. (PubMed id 8597636)1, 2, 9 Law D.J.... Silver L.M. (1995)
    3. Physical and functional interaction between PML and TB X2 in the establishment of cellular senescence. (PubMed id 22002537)1, 2 Martin N....Bischof O. (2012)
    4. Genetic loci influencing kidney function and chronic kidney disease. (PubMed id 20383145)1, 4 Chambers J.C....Kooner J.S. (2010)
    5. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (2010)
    6. Identification of 15 loci influencing height in a Kor ean population. (PubMed id 19893584)1, 4 Kim J.J....Lee J.K. (2010)
    7. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)
    8. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PubMed id 19266077)1, 4 Sovio U....Jarvelin M.R. (2009)
    9. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    10. 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)

    (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: 6909 HGNC: 11597 AceView: TBX2 Ensembl:ENSG00000121068 euGenes: HUgn6909
    ECgene: TBX2 H-InvDB: TBX2

    (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 TBX2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TBX2 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 TBX2 gene:
    Search GeneIP for patents involving TBX2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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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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