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

TBX3 Gene

protein-coding   GIFtS: 61
GCID: GC12M115108

T-Box 3

(Previous name: ulnar mammary syndrome)
(Previous symbol: UMS)
  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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009775.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TBX3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Nucleus (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15119

  • TBX3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBX3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005987.3  NP_057653.3  

    ENSEMBL proteins: 
     ENSP00000257567   ENSP00000257566  

    Human Recombinant Protein Products for TBX3: 
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    Novus Biologicals TBX3 Protein
    Novus Biologicals TBX3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TBX3 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11689487

    TBX3 for ontologies           About GeneDecksing



    TBX3 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for TBX3


    (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

    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


    TBX3 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: 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 (GO ID links to tree view):    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
         
    TBX3 for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tbx3):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  homeostasis/metabolism  integument  limbs/digits/tail  liver/biliary system 
     mortality/aging  normal  reproductive system  skeleton 

    TBX3 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TBX3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    8/43 QIAGEN miScript miRNA 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:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX3


    (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 TBX3 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TBX3
        Selected targets of Oct-3/4




    TBX3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TBX3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for TBX3 (O151192, 3 ENSP000002575664) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    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): 5/44 biological process terms (GO ID links to tree view) (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--

    TBX3 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 TBX3

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 TBX3 gene (2 alternative transcripts): 
    NM_005996.3  NM_016569.3  

    Unigene Cluster for TBX3:

    T-box 3
    Hs.744016  [show with all ESTs]
    Unigene Representative Sequence: NM_016569
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000349155(uc001tvt.1 uc001tvu.1) ENST00000257566 ENST00000548503
    ENST00000552054(uc010syw.1)
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX3
    8/43 QIAGEN miScript miRNA 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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    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX3
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX3
    Sirion Biotech Customized lentivirus for stable overexpression of TBX3 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX3

    Additional mRNA sequence: 

    AF002228.1 AF074999.1 AF140240.1 AF170708.2 AF216750.1 AK054604.1 AK075457.1 AK304639.1 
    AY034105.1 BC025258.1 

    10 DOTS entries:

    DT.216500  DT.91980610  DT.105635  DT.121181995  DT.40126465  DT.121181998  DT.75153637  DT.92436721 
    DT.121181994  DT.95268862 

    24/263 AceView cDNA sequences (see all 263):

    BU688119 AA365408 AF140240 AI220883 AI499622 AI374773 AI085980 CB048970 
    NM_016569 BQ015077 BU752906 AV702518 BG055137 AI659386 BF437290 AI186625 
    AI762596 BE348263 AI347976 AI280030 AI200223 BV177985 BQ188072 BF447203 

    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™, 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

    TBX3 expression in normal human tissues (normalized intensities)      TBX3 embryonic expression: see
    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 
     5/27 selected tissues (see all 27) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             Midbrain   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 6 entries
             Pharynx
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Heart (Cardiovascular System)    fully expand to see all 6 entries
             Sinoatrial Node Cells Sinoatrial Node
             DKK1-induced cells ( Derivation of cardiomyocytes from pluripotent stem cells and...
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Prechondrocytic Mesenchymal Cells Zeugopod
             Mandibular Condyle
             skeleton/pectoral girdle and thoracic body wall/sternum   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Diencephalon

    See TBX3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBX3

    SOURCE GeneReport for Unigene cluster: Hs.744016

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including TBX3: 
              Cellular Senescence in human mouse rat
              Apoptosis 384HT in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TBX3 gene from 6/14 species (see all 14)    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_011535.21  NP_035665.21 
     1196708625 
    chicken
    (Gallus gallus)
    Aves TBX31 T-box 3 76.52(n)
    82.39(a)
      374202  XM_001234534.2  XP_001234535.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia Tbx32 transcription factor Tbx3 75.29(n)    AB032942.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbx31 T-box 3 72.22(n)
    76.02(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)
    About This Section
    Paralogs for TBX3 gene
    TBX12  TBX222  TBX192  T2  EOMES2  TBX22  TBX62  TBX212  
    TBX202  TBX52  TBX152  TBR12  TBX102  TBX42  TBX182  
    2 SIMAP similar genes for TBX3 using alignment to 1 protein entry:     TBX3_HUMAN:
    DKFZp762H2012    TBX2

    TBX3 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

    10/401 SNPs in TBX3 are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TBX3
    DNA2.0 Custom Variant and Variant Library Synthesis for TBX3

    (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: 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

  • 14 diseases for TBX3:    About MalaCards
    ulnar-mammary syndrome    holt-oram syndrome    murcs association    adult syndrome
    mayer-rokitansky-kuster-hauser syndrome    digeorge syndrome    brachydactyly    essential hypertension
    blindness    hypertension    mental retardation    breast cancer
    obesity    melanoma


    TBX3 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for TBX3 gene, integrated from 9 sources (see all 91):
    (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. (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. (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. (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. (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. (2011)
    6. Meta-analysis of genome-wide association studies iden tifies common variants associated with blood pressure variation in east Asians. (PubMed id 21572416)1, 4 Kato N....He J. (2011)
    7. Genome-wide association study of PR interval. (PubMed id 20062060)1, 4 Pfeufer A....Heckbert S.R. (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. (2010)
    9. Common variants in 22 loci are associated with QRS du ration and cardiac ventricular conduction. (PubMed id 21076409)1, 4 Sotoodehnia N....Arking D.E. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (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: 6926 HGNC: 11602 AceView: TBX3 Ensembl:ENSG00000135111 euGenes: HUgn6926
    ECgene: TBX3 H-InvDB: TBX3

    (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 TBX3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TBX3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBX3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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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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