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

TBX2 Gene

protein-coding   GIFtS: 59
GCID: GC17P059477

T-box 2
 Explore 17 diseases affiliated with
TBX2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TBX2    

Aliases
for TBX2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for TBX2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  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 plasmid: TBX2 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

Proteins
for TBX2 gene

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13207

    • TBX2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005985.3  
    ENSEMBL proteins: 
     ENSP00000240328   ENSP00000404781  

    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



    TBX2 Antibody Products: 
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    Uscn ELISAs and CLIAs for TBX2

    Protein Domains /
    Families
    for TBX2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TBX2 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    IPB001699 Transcription factor
    IPB002070 Brachyury protein family signature


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


    Function
    for TBX2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX2
    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 plasmid: TBX2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX2 (see all 7)
    OriGene shRNA RFP: TBX2
    OriGene siRNA: TBX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TBX2

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX2 

    Cell Line
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    Search LifeMap BioReagents cell lines for TBX2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX2

    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 ----
    GO:0043565sequence-specific DNA binding IDA11111039


    TBX2 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for TBX2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Inhibition of Ribosome Biogenesis by p14(ARF)
    		Inhibition of Ribosome Biogenesis by p14(ARF)1.00
    2Heart Development
    		Heart Development1.00

    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): 5/23 biological process terms (GO ID links to tree view) (see all 23):    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



    Drugs & Compounds
    for TBX2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for TBX2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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, 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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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX2
    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 plasmid: TBX2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX2 (see all 7)
    OriGene shRNA RFP: TBX2
    OriGene siRNA: TBX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX2
    Clone
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    GenScript: all cDNA clones in your preferred vector: TBX2 (NM_005994)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX2 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TBX2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX2

    Additional cDNA sequence: 

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

    7 DOTS entries:

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

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

    AI572360 BC052566 BE048856 CR620143 BM713401 BQ709839 BM925013 BQ883284 
    AI656691 BM678321 BM725621 AI632760 BM707637 CA488028 AI200289 CR615365 
    BE670348 BM985069 NM_005994 AL832900 BM710317 BF205613 AW664912 AI968510 

    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

    Expression
    for TBX2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCAGCAGCAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TBX2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/23 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 23) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    HeartAtrioventricular SeptumCardiomyocytesMyocardium
    HeartInner CurvatureCardiomyocytesMyocardium
    HeartLeft AtriumCardiomyocytesMyocardium
    HeartOutflow TractCardiomyocytesMyocardium
    HeartOuter CurvatureCardiomyocytesMyocardium
    HeartAtrioventricular NodeAtrioventricular Node CellsMyocardium
    HeartHeart TubeHeart Tube CellsMyocardium
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    HeartRight AtriumCardiomyocytesMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Beating cell clusters (Spontaneous differen...)

    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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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX2

    Orthologs
    for TBX2 gene

    (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 5/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves TBX21 T-box 2 79.21(n)
    81.93(a)    		   373990  XM_001235320.2  XP_001235321.2 
    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
    for TBX2 gene

    (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  TBX32  
    TBX202  TBX52  TBX102  TBX42  TBR12  TBX152  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    TBX5    TBX10

    TBX2 for paralogs           About GeneDecksing



    Genomic Variants
    for TBX2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/230 NCBI SNPs in TBX2 are shown (see all 230)     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--------
    rs99056421,2
    		C,A,H--59475266(+) CACACA/GCGCGC 1 -- us2k11Minor allele frequency- G:0.00WA 2
    rs38345891,2
    		C,--59475319(-) CAGGT-/GTACCGG 1 -- us2k10--------
    rs803300271,2
    		C--59475321(+) GGTAC-/ACCTGGG 1 -- us2k10--------
    rs72151451,2
    		C,F,--59475415(+) AGAGGC/TCACAT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1812965491,2
    		--59475442(+) CCAGCA/CGGTAT 1 -- us2k10--------
    rs1476464961,2
    		--59475488(+) CTGCGC/TAGACT 1 -- us2k10--------
    rs37603691,2
    		C,H,--59475583(-) CACAGG/AGTTTT 1 -- us2k14Minor allele frequency- A:0.15NA WA EA 360

    HapMap Linkage Disequilibrium report for TBX2 (59477257 - 59486827 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TBX2: --
    Human Gene Mutation Database (HGMD): TBX2

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for TBX2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TBX2 for disorders           About GeneDecksing

    OMIM gene information: 600747    OMIM disorders: --

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

    2 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: TBX2 (6 documents)

    Export disorders for TBX2 gene to outside databases

    Publications
    for TBX2 gene

    (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 64):
    (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. 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)
    4. Expression and clinical significance of tbx2 in pancreatic cancer. (PubMed id 19469638)1, 9 Duo S....Xian-Wei D. (2009)
    5. UV-mediated regulation of the anti-senescence factor Tbx2. (PubMed id 18025091)1, 9 Abrahams A....Prince S. (2008)
    6. Tbx2 is overexpressed and plays an important role in maintaining proliferation and suppression of senescence in melanomas. (PubMed id 15781639)1, 9 Vance K.W....Goding C.R. (2005)
    7. T-box 2 represses NDRG1 through an EGR1-dependent mec hanism to drive the proliferation of breast cancer cells. (PubMed id 20348948)1, 9 Redmond K.L....Mullan P.B. (2010)
    8. A role for Tbx2 in the regulation of the alpha2(1) collagen gene in human fibroblasts. (PubMed id 17407139)1, 9 Teng H....Prince S. (2007)
    9. Brachyury-related transcription factor Tbx2 and repression of the melanocyte-specific TRP-1 promoter. (PubMed id 9710594)1, 9 Carreira S....Goding C.R. (1998)
    10. Cell cycle regulation of the T-box transcription factor tbx2. (PubMed id 16730707)1, 9 Bilican B. and Goding C.R. (2006)

    External Searches for TBX2 gene

    (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)

    Genome Databases showing TBX2 gene

    (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

    Other Databases showing TBX2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TBX2 gene

    (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

    Intellectual Property
    for TBX2 gene

    (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



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