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TBX3 Gene

protein-coding   GIFtS: 58
GCID: GC12M115108

T-Box 3

(Previous name: ulnar mammary syndrome)
(Previous symbol: UMS)
  See TBX3-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)
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Aliases
T-Box 31 2     TBX3-ISO2
UMS1 2     XHL2
T-Box Protein 32 3     Bladder Cancer Related Protein XHL2
Ulnar Mammary Syndrome1     T-Box Transcription Factor TBX32

External Ids:    HGNC: 116021   Entrez Gene: 69262   Ensembl: ENSG000001351117   OMIM: 6016215   UniProtKB: O151193   

Export aliases for TBX3 gene to outside databases

Previous GC identifers: GC12M114019 GC12M114628 GC12M114890 GC12M113520 GC12M113570 GC12M112116


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TBX3 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
protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the
tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth,
hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding
different isoforms; however, the full length nature of one variant has not been determined. (provided by RefSeq,
Jul 2008)

GeneCards Summary for TBX3 Gene:
TBX3 (T-box 3) is a protein-coding gene. Diseases associated with TBX3 include ulnar-mammary syndrome, and holt-oram syndrome. GO annotations related to this gene include RNA polymerase II activating transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TBX1.

UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119
Function: Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern
formation. Acts as a negative regulator of PML function in cellular senescence

Gene Wiki entry for TBX3 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the TBX3 gene promoter:
         Max1   FAC1   FOXF2   HNF-4alpha2   Nkx2-5   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBX3 promoter sequence
   Search Chromatin IP Primers for TBX3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBX3


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

Entrez Gene cytogenetic band: 12q24.21   Ensembl cytogenetic band:  12q24.21   HGNC cytogenetic band: 12q24.21

TBX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBX3 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M115108:  view genomic region     (about GC identifiers)

Start:
115,108,059 bp from pter      End:
115,121,969 bp from pter
Size:
13,911 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119 (See protein sequence)
Recommended Name: T-box transcription factor TBX3  
Size: 743 amino acids; 79389 Da
Subunit: Interacts with PML (isoform PML-4)
1 PDB 3D structure from and Proteopedia for TBX3:
1H6F (3D)    
Secondary accessions: Q8TB20 Q9UKF8
Alternative splicing: 4 isoforms:  O15119-1   O15119-2   O15119-3   O15119-4   (May be produced by joining exon 1 to exon 7 thereby eliminating the T-box)

Explore the universe of human proteins at neXtProt for TBX3: NX_O15119

Explore proteomics data for TBX3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TBX3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005987.3  NP_057653.3  

    ENSEMBL proteins: 
     ENSP00000257567   ENSP00000257566  

    TBX3 Human Recombinant Protein Products:

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    Novus Biologicals TBX3 Protein
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TBX3

     
    Search eBioscience for Proteins for TBX3 

     
    antibodies-online proteins for TBX3 (12 products) 

     
    antibodies-online peptides for TBX3

    TBX3 Antibody Products:

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    antibodies-online antibodies for TBX3 (94 products) 

    TBX3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    antibodies-online kits for TBX3 (20 products) 


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

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

    Graphical View of Domain Structure for InterPro Entry O15119

    ProtoNet protein and cluster: O15119

    1 Blocks protein domain: IPB001699 Transcription factor

    UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119
    Similarity: Contains 1 T-box DNA-binding domain


    Find genes that share domains with TBX3           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBX3_HUMAN, O15119
    Function: Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern
    formation. Acts as a negative regulator of PML function in cellular senescence

         Genatlas biochemistry entry for TBX3:
    murine T-box gene Tbx3 (T,brachyury)homolog,putative transcription factor,pairing with TBX5,homolog to Drosophila
    optomotor-blind gene (omb),involved in optic lobe and wing development,involved in developmental
    regulation,expressed in anterior and posterior mouse limb buds,widely expressed in adults

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001085RNA polymerase II transcription factor binding ISS--
    GO:0001102RNA polymerase II activating transcription factor binding ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--
    GO:0043565sequence-specific DNA binding IDA11689487
         
    Find genes that share ontologies with TBX3           About GenesLikeMe


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Tbx3):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  homeostasis/metabolism  integument  limbs/digits/tail  liver/biliary system 
     mortality/aging  muscle  normal  reproductive system  skeleton 

    Find genes that share phenotypes with TBX3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TBX3: Tbx3tm1Jcib Tbx3tm1Pa

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBX3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TBX3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBX3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBX3

    miRNA
    Products:
        
    miRTarBase miRNAs that target TBX3:
    hsa-mir-128-3p (MIRT022052), hsa-mir-22-3p (MIRT030639), hsa-mir-1226-3p (MIRT036446)

    Block miRNA regulation of human, mouse, rat TBX3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBX3 (see all 43):
    hsa-miR-106a hsa-miR-25 hsa-miR-519a hsa-miR-3622b-3p hsa-miR-93 hsa-miR-520g hsa-miR-526b* hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidTBX3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TBX3
    Predesigned siRNA for gene silencing in human, mouse, rat TBX3

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for TBX3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TBX3 (NM_005996)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX3

    Cell Line
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    ESI BIO PureStem Progenitor for TBX3: 
    PureStem Z11, Meso Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TBX3_HUMAN, O15119: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11689487

    Find genes that share ontologies with TBX3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TBX3 About    
    See pathways by source

    SuperPathContained pathways About
    1Selected targets of Oct 3 4
    Selected targets of Oct 3 4



        Pathway & Disease-focused RT2 Profiler PCR Arrays including TBX3: 
              Cellular Senescence in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TBX3

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

    Selected Interacting proteins for TBX3 (O151192, 3 ENSP000002575664) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC3O153793, ENSP000003029674I2D: score=1 STRING: ENSP00000302967
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    HDAC2Q927693, ENSP000003813314I2D: score=1 STRING: ENSP00000381331
    HDAC5Q9UQL63, ENSP000002259834I2D: score=1 STRING: ENSP00000225983
    TOLLIPQ9H0E23, ENSP000003147334I2D: score=3 STRING: ENSP00000314733
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 44):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001501skeletal system development IMP9207801
    GO:0001568blood vessel development IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001947heart looping IEA--

    Find genes that share ontologies with TBX3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TBX3



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TBX3 gene (2 alternative transcripts): 
    NM_005996.3  NM_016569.3  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000349155(uc001tvt.1 uc001tvu.1) ENST00000257566 ENST00000548503
    ENST00000552054(uc010syw.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TBX3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBX3 (see all 43):
    hsa-miR-106a hsa-miR-25 hsa-miR-519a hsa-miR-3622b-3p hsa-miR-93 hsa-miR-520g hsa-miR-526b* hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidTBX3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TBX3
    Predesigned siRNA for gene silencing in human, mouse, rat TBX3
    Clone
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    OriGene clones in human, mouse for TBX3 (see all 13)
    OriGene ORF clones in mouse, rat for TBX3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TBX3 (NM_005996)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TBX3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBX3
      QuantiTect SYBR Green Assays in human, mouse, rat TBX3
      QuantiFast Probe-based Assays in human, mouse, rat TBX3

    Selected AceView cDNA sequences (see all 263):

    AI347688 NM_016569 AA365408 AI499622 BM997578 AF140240 BV177985 AK130978 
    AI004151 BU688119 AI220883 AI199409 BU752906 BF002728 AI659386 BV180391 
    BE348263 BF447203 BQ188072 BM771638 AA248661 BQ015077 AI085980 AK075457 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TBX3    About this scheme

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


    ECgene alternative splicing isoforms for TBX3

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TBX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGTATATT
    TBX3 Expression
    About this image


    TBX3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Sinoatrial Node Cells Sinoatrial Node
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Prechondrocytic Mesenchymal Cells Zeugopod
             Mandibular Condyle
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Diencephalon
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 3 entries
             Branchial Arch 1
    TBX3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBX3 Protein Expression

    UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TBX3: 
              Cellular Senescence in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TBX3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBX3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX3

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TBX3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbx31 , 5 T-box 31, 5 86.51(n)1
    94.45(a)1
      5 (60.34 cM)5
    213861  NM_011535.31  NP_035665.21 
     1196708625 
    chicken
    (Gallus gallus)
    Aves TBX31 T-box 3 77.34(n)
    83.07(a)
      374202  NM_001270878.1  NP_001257807.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBX36
    T-box 3
    92(a)
    1 ↔ 1
    LGb(3261512-3267944)
    African clawed frog
    (Xenopus laevis)
    Amphibia Tbx32 transcription factor Tbx3 75.29(n)    AB032942.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbx3a1 T-box 3a 71.35(n)
    74.85(a)
      556870  NM_001101670.2  NP_001095140.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta bi3 transcription factor 78(a)
    (best of 5)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea tbx-23   -- 69(a)
    (best of 2)
      III(5203006-5204637)   --


    ENSEMBL Gene Tree for TBX3 (if available)
    TreeFam Gene Tree for TBX3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBX3 gene
    TBX12  TBX222  TBX192  T2  TBX22  TBX62  TBX202  TBX52  
    TBX152  TBX102  TBX42  TBX182  
    2 SIMAP similar genes for TBX3 using alignment to 1 protein entry:     TBX3_HUMAN:
    DKFZp762H2012    TBX2

    Find genes that share paralogs with TBX3           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TBX3 (see all 401)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0096024
    Ulnar-mammary syndrome (UMS)4--see VAR_0096022 Y S mis40--------
    VAR_0096014
    Ulnar-mammary syndrome (UMS)4--see VAR_0096012 L P mis40--------
    rs1048943761,2
    Cpathogenic1114910961(-) AGTTAA/TAAATA 4 K * stg10--------
    rs2012306851,2
    --112119087(+) TGTGT-/GTTTTT 2 -- int10--------
    rs1429128341,2
    C--112122286(+) TGAGA-/GTGTGT
    GTGTGTGT
    GTGTG
    2 -- int10--------
    rs362033771,2
    C--112131149(-) AACCAGAGC/-  
            
    GAGCG
    2 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs754433491,2
    F--114903128(+) TTTTCG/AACTTG 2 -- ds50011Minor allele frequency- A:0.01WA 118
    rs1457150371,2
    --114903208(+) CTTTTG/TGTCGG 2 -- ds50010--------
    rs1457155991,2
    --114903337(+) TTGCTC/TCCTAA 2 -- ds50010--------
    rs1885629761,2
    --114903364(+) TTTCAA/GATTGA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for TBX3 (115108059 - 115121969 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TBX3: --
    Human Gene Mutation Database (HGMD): TBX3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBX3
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    (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.)
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    OMIM gene information: 601621   
    OMIM disorders: 181450  
    UniProtKB/Swiss-Prot: TBX3_HUMAN, O15119
  • Ulnar-mammary syndrome (UMS) [MIM:181450]: Characterized by ulnar ray defects, obesity, hypogenitalism,
    delayed puberty, hypoplasia of nipples and apocrine glands. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 4 diseases for TBX3:    
    About MalaCards
    ulnar-mammary syndrome    holt-oram syndrome    murcs association    mayer-rokitansky-kuster-hauser syndrome


    Find genes that share disorders with TBX3           About GenesLikeMe

    6 Novoseek inferred disease relationships for TBX3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ulnar-mammary syndrome 98.9 23 9207801 (2), 12668170 (2), 11689487 (2), 16896345 (2) (see all 17)
    holt-oram syndrome 84.6 1 9611267 (1)
    digeorge syndrome 59.8 1 12668595 (1)
    hypoplasia 40.2 1 16955224 (1)
    cancer 9.37 7 16049973 (2), 18534921 (1), 19052953 (1), 20033428 (1) (see all 6)
    breast cancer 7.76 16 18245468 (5), 15289316 (4), 16049973 (2)

    Genetic Association Database (GAD): TBX3
    Human Genome Epidemiology (HuGE) Navigator: TBX3 (10 documents)

    Export disorders for TBX3 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)
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    PubMed articles for TBX3 gene, integrated from 10 sources (see all 92):
    (articles sorted by number of sources associating them with TBX3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. (PubMed id 10330342)1, 2, 9 Bamshad M.... Jorde L.B. (Am. J. Hum. Genet. 1999)
    2. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. (PubMed id 9207801)1, 2, 9 Bamshad M.... Jorde L.B. (Nat. Genet. 1997)
    3. Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. (PubMed id 12005433)1, 2, 9 Coll M.... Muller C.W. (Structure 2002)
    4. Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. (PubMed id 10468588)1, 2, 9 He M.-L.... Rao Y. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    5. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PubMed id 21909110)1, 4 Wain L.V....van Duijn C.M. (Nat. Genet. 2011)
    6. Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. (PubMed id 21572416)1, 4 Kato N....He J. (Nat. Genet. 2011)
    7. Genome-wide association study of PR interval. (PubMed id 20062060)1, 4 Pfeufer A....Heckbert S.R. (Nat. Genet. 2010)
    8. Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. (PubMed id 20414254)1, 4 Hong K.W....Oh B. (J. Hum. Genet. 2010)
    9. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. (PubMed id 21076409)1, 4 Sotoodehnia N....Arking D.E. (Nat. Genet. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6926 HGNC: 11602 AceView: TBX3 Ensembl:ENSG00000135111 euGenes: HUgn6926
    ECgene: TBX3 H-InvDB: TBX3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TBX3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TBX3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TBX3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TBX3 gene:
    Search GeneIP for patents involving TBX3

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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