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

TBX5 Gene

protein-coding   GIFtS: 65
GCID: GC12M114791

T-Box 5


(Previous symbol: HOS)
  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 51 2
HOS1 2
T-Box Protein 52 3
T-Box Transcription Factor TBX52

External Ids:    HGNC: 116041   Entrez Gene: 69102   Ensembl: ENSG000000892257   OMIM: 6016205   UniProtKB: Q995933   

Export aliases for TBX5 gene to outside databases

Previous GC identifers: GC12M113701 GC12M114312 GC12M114574 GC12M113203 GC12M113254 GC12M111801


(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 TBX5 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
is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded
protein may play a role in heart development and specification of limb identity. Mutations in this gene have been
associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several
transcript variants encoding different isoforms have been described for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for TBX5 Gene: 
TBX5 (T-box 5) is a protein-coding gene. Diseases associated with TBX5 include holt-oram syndrome, and lung agenesis, and among its related super-pathways are Gene Expression and Human Embryonic Stem Cell Pluripotency. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TBX1.

UniProtKB/Swiss-Prot: TBX5_HUMAN, Q99593
Function: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably
plays a role in limb pattern formation

Gene Wiki entry for TBX5 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 TBX5 gene promoter:
         STAT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TBX5 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBX5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBX5


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

Entrez Gene cytogenetic band: 12q24.1   Ensembl cytogenetic band:  12q24.21   HGNC cytogenetic band: 12q24.1

TBX5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBX5 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M114791:  view genomic region     (about GC identifiers)

Start:
114,791,735 bp from pter      End:
114,846,247 bp from pter
Size:
54,513 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: TBX5_HUMAN, Q99593 (See protein sequence)
Recommended Name: T-box transcription factor TBX5  
Size: 518 amino acids; 57711 Da
Subunit: Monomer
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=BAB55448.1; Type=Frameshift; Positions=360;
2 PDB 3D structures from and Proteopedia for TBX5:
2X6U (3D)        2X6V (3D)    
Secondary accessions: A6ND77 O15301 Q96TB0 Q9Y4I2
Alternative splicing: 3 isoforms:  Q99593-1   Q99593-2   Q99593-3   

Explore the universe of human proteins at neXtProt for TBX5: NX_Q99593

Explore proteomics data for TBX5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99593

  • TBX5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBX5 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000183.2  NP_542448.1  NP_852259.1  

    ENSEMBL proteins: 
     ENSP00000337723   ENSP00000309913   ENSP00000384152   ENSP00000433292  
    Reactome Protein details: Q99593
    Human Recombinant Protein Products for TBX5: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for TBX5
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    Novus Biologicals TBX5 Proteins
    Novus Biologicals TBX5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TBX5 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12237100
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm TAS--

    TBX5 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for TBX5


    (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

    3 InterPro protein domains:
     IPR001699 TF_T-box
     IPR008967 p53-like_TF_DNA-bd
     IPR018186 TF_T-box_CS

    Graphical View of Domain Structure for InterPro Entry Q99593

    ProtoNet protein and cluster: Q99593

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


    UniProtKB/Swiss-Prot: TBX5_HUMAN, Q99593
    Similarity: Contains 1 T-box DNA-binding domain


    TBX5 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: TBX5_HUMAN, Q99593
    Function: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably
    plays a role in limb pattern formation

         Genatlas biochemistry entry for TBX5:
    murine T-box gene Tbx5 (T,brachyury)homolog,putative transcription factor,likely expressed in developing limb bud
    and heart in mice,involved in developmental regulation,pairing with TBX3,homolog to Drosophila optomotor-blind
    gene (omb),involved in optic lobe and wing development

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000977RNA polymerase II regulatory region sequence-specific DNA binding IEA--
    GO:0003677DNA binding IDA16332960
    GO:0003700sequence-specific DNA binding transcription factor activity IMP11431700
    GO:0005515protein binding IPI11431700
    GO:0008134transcription factor binding IPI11431700
         
    TBX5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TBX5:
     Decreased viability of wild-ty 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tbx5):
     cardiovascular system  embryogenesis  homeostasis/metabolism  limbs/digits/tail  mortality/aging 
     muscle  normal  skeleton 

    TBX5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tbx5tm1.1Jse for TBX5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TBX5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBX5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBX5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBX5 

    miRNA
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    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate TBX5 (see all 39):
    hsa-miR-21* hsa-miR-429 hsa-let-7d hsa-miR-624* hsa-miR-4267 hsa-let-7g hsa-let-7a hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidTBX5 3' UTR sequence
    Inhib. RNA
    Products:
        
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    GenScript: all cDNA clones in your preferred vector (see all 4): TBX5 (NM_181486)
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    (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 TBX5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47
    2Human Embryonic Stem Cell Pluripotency
    Factors Promoting Cardiogenesis in Vertebrates0.50
    3Heart Development
    Heart Development
    4Cardiac Progenitor Differentiation
    Cardiac Progenitor Differentiation
    5YAP1- and WWTR1 (TAZ)-stimulated gene expression
    YAP1- and WWTR1 (TAZ)-stimulated gene expression

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TBX5
        Factors Promoting Cardiogenesis in Vertebrates

    2 BioSystems Pathways for TBX5
        Heart Development
    Cardiac Progenitor Differentiation


    3        Reactome Pathways for TBX5
        Generic Transcription Pathway
    Gene Expression
    YAP1- and WWTR1 (TAZ)-stimulated gene expression



    TBX5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TBX5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/10 Interacting proteins for TBX5 (Q995931, 3 ENSP000003099134) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NKX2-5P529521, 3, ENSP000003277584EBI-304423,EBI-936601 I2D: score=2 STRING: ENSP00000327758
    SMARCA4P515323, ENSP000003507204I2D: score=1 STRING: ENSP00000350720
    GATA4P436943, ENSP000003344584I2D: score=3 STRING: ENSP00000334458
    KAT5Q929933, ENSP000003403304I2D: score=1 STRING: ENSP00000340330
    YAP1P469371EBI-297043,EBI-1044059
    About this table

    Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002009morphogenesis of an epithelium IEA--
    GO:0003166bundle of His development IEA--
    GO:0003181atrioventricular valve morphogenesis IEA--
    GO:0003197endocardial cushion development IEA--
    GO:0003218cardiac left ventricle formation ISS--

    TBX5 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

    TBX5 for compounds           About GeneDecksing

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

    Browse Tocris compounds for TBX5

    1 Novoseek inferred chemical compound relationship for TBX5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 6.45 8 18406560 (2), 15069081 (1), 15597047 (1)

    Search CenterWatch for drugs/clinical trials and news about TBX5

    (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 TBX5 gene (4 alternative transcripts): 
    NM_000192.3  NM_080717.2  NM_181486.2  NM_080718.1  

    Unigene Cluster for TBX5:

    T-box 5
    Hs.381715  [show with all ESTs]
    Unigene Representative Sequence: NM_000192
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000349716 ENST00000310346(uc001tvo.3 uc001tvp.3 uc001tvq.3)
    ENST00000405440 ENST00000526441(uc010syv.2) ENST00000552726
    miRNA
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    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate TBX5 (see all 39):
    hsa-miR-21* hsa-miR-429 hsa-let-7d hsa-miR-624* hsa-miR-4267 hsa-let-7g hsa-let-7a hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidTBX5 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX5
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX5

    Additional mRNA sequence: 

    AB051068.1 AF086146.1 AF221714.1 AK290611.1 AK300251.1 BC011028.1 BC027942.1 U80987.1 
    U89353.1 

    4 DOTS entries:

    DT.303668  DT.205719  DT.91647764  DT.92052463 

    24/38 AceView cDNA sequences (see all 38):

    NM_000192 U80987 NM_080717 NM_181486 U89353 AB051068 NM_080718 AF221714 
    AL691742 BM792230 AF086146 AI143430 AA247888 CB988702 BC011028 BI769267 
    AI822068 AA909517 AA909518 BU681707 AA971143 AA906435 BM972576 BX089920 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TBX5    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
    SP1:              -                                                     -         
    SP2:                                                                    -         
    SP3:              -     -     -                                         -         
    SP4:                                                                              


    ECgene alternative splicing isoforms for TBX5

    (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

    TBX5 expression in normal human tissues (normalized intensities)      TBX5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATGAAACC
    TBX5 Expression
    About this image


    TBX5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 22 entries
             Cardiomyocytes Left Atrium
             Cardiac progenitor cells (Sca1+)
             DKK1-induced cells ( Derivation of cardiomyocytes from pluripotent stem cells and...
             atrial myocardium   
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Limb Bud Mesenchyme Cells Limb Bud
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Limb Bud Mesenchyme Cells Limb Bud
     
     Placenta (Extraembryonic Tissues)
             placenta   
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod

    See TBX5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBX5

    SOURCE GeneReport for Unigene cluster: Hs.381715
        SABiosciences Expression via Pathway-Focused PCR Arrays including TBX5: 
              Stem Cell Transcription Factors in human mouse rat
              Mesenchymal Stem Cell 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 TBX5

    (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 TBX5 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 Tbx51 , 5 T-box 51, 5 87.13(n)1
    96.14(a)1
      5 (60.42 cM)5
    213881  NM_011537.31  NP_035667.11 
     1198346635 
    chicken
    (Gallus gallus)
    Aves TBX51 T-box 5 79.86(n)
    89(a)
      373988  NM_204173.1  NP_989504.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBX56
    Uncharacterized protein
    82(a)
    1 ↔ 1
    GL343338.1(1124526-1154021)
    African clawed frog
    (Xenopus laevis)
    Amphibia tbx5-B2 T-box transcription factor Tbx5 76.61(n)    AF133036.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbx52 T-box 5 75.16(n)   30071  AF152607.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mab-93 transcription regulator 47(a)
    (best of 3)
      II(516155-521443)   --


    ENSEMBL Gene Tree for TBX5 (if available)
    TreeFam Gene Tree for TBX5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBX5 gene
    TBX12  TBX222  TBX192  T2  EOMES2  TBX22  TBX62  TBX212  
    TBX202  TBX32  TBX152  TBR12  TBX42  TBX102  TBX182  
    10 SIMAP similar genes for TBX5 using alignment to 1 protein entry:     TBX5_HUMAN:
    TBX4    TBX6    TBX1    TBX20    TBX18    TBX10
    TBX15    T    DKFZp762H2012    TBX2

    TBX5 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

    10/1397 SNPs in TBX5 are shown (see all 1397)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0097024
    Holt-Oram syndrome (HOS)4--see VAR_0097022 R W mis40--------
    VAR_0153824
    Holt-Oram syndrome (HOS)4--see VAR_0153822 I T mis40--------
    VAR_0097014
    Holt-Oram syndrome (HOS)4--see VAR_0097012 G R mis40--------
    VAR_0153814
    Holt-Oram syndrome (HOS)4--see VAR_0153812 Q K mis40--------
    VAR_0074564
    Holt-Oram syndrome (HOS)4--see VAR_0074562 R Q mis40--------
    rs1048943781,2
    Cpathogenic1114618919(-) ATTTCA/GGGGCA 6 Q R mis10--------
    rs1048943821,2
    Cpathogenic1114618920(-) GATTTC/TGGGGC 6 R W mis10--------
    rs1048943791,2
    Cpathogenic1114632069(-) CTGTAA/CGTGCA 6 * Y stg10--------
    rs1048943811,2
    Cpathogenic1114635224(-) AGGCTA/GGAAGG 6 R G mis10--------
    rs1048943771,2
    Cpathogenic1114635257(-) TCCACG/TAAGTG 6 E * stg10--------

    HapMap Linkage Disequilibrium report for TBX5 (114791735 - 114846247 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TBX5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv455720CNV Loss19166990
    nsv832518CNV Loss17160897
    nsv832517CNV Gain17160897


    Human Gene Mutation Database (HGMD): TBX5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TBX5
    DNA2.0 Custom Variant and Variant Library Synthesis for TBX5

    (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: 601620   
    OMIM disorders: 142900  
    UniProtKB/Swiss-Prot: TBX5_HUMAN, Q99593
  • Holt-Oram syndrome (HOS) [MIM:142900]: Developmental disorder affecting the heart and upper limbs. It is
    characterized by thumb anomaly and atrial septal defects. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 20/22 diseases for TBX5 (see all 22):    About MalaCards
    holt-oram syndrome    lung agenesis    tbx5-related holt-oram syndrome    ulnar-mammary syndrome
    acro-renal-ocular syndrome    ventricular septal defect    murcs association    patent ductus arteriosus
    atrioventricular septal defect    mayer-rokitansky-kuster-hauser syndrome    developmental disabilities    congenital heart defect
    digeorge syndrome    short stature    velocardiofacial syndrome    coloboma
    narcolepsy    essential hypertension    blindness    hypertension

    3 diseases from the University of Copenhagen DISEASES database for TBX5:
    Congenital heart defect     Heart disease     Coloboma

    TBX5 for disorders           About GeneDecksing

    10/17 Novoseek inferred disease relationships for TBX5 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    holt-oram syndrome 98.6 76 10373308 (3), 8988165 (3), 17534187 (3), 16792966 (3) (see all 49)
    holt oram syndrome 91.2 2 10745699 (1), 12668595 (1)
    limb malformation 86.7 4 12789647 (2), 12436037 (1), 16917909 (1)
    ulnar-mammary syndrome 86.1 3 12005433 (1), 16892408 (1), 12668595 (1)
    okihiro syndrome 77.4 1 12843316 (1)
    heart defects congenital 76.5 16 16258075 (1), 10373308 (1), 12736217 (1), 15221798 (1) (see all 15)
    congenital heart disease 69.5 18 15639924 (4), 15096952 (2), 19586889 (2), 17668378 (1) (see all 9)
    septal defect 61.7 5 12845333 (3), 10373308 (1)
    digeorge syndrome 54.6 3 12005433 (1), 12668595 (1), 15548583 (1)
    atrioventricular septal defect 51.6 2 10373308 (1), 15221798 (1)

    GeneTests: TBX5
    GeneReviews: TBX5
    Genetic Association Database (GAD): TBX5
    Human Genome Epidemiology (HuGE) Navigator: TBX5 (16 documents)

    Export disorders for TBX5 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 TBX5 gene, integrated from 9 sources (see all 162):
    (articles sorted by number of sources associating them with TBX5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in human TBX5 cause limb and cardiac malformation in Holt- Oram syndrome. (PubMed id 8988165)1, 2, 3, 9 Basson C.T....Seidman C.E. (1997)
    2. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. (PubMed id 10077612)1, 2, 4, 9 Basson C.T.... Seidman C.E. (1999)
    3. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. (PubMed id 16183809)1, 4, 9 McDermott D.A....Basson C.T. (2005)
    4. Novel TBX5 mutations in patients with Holt-Oram syndrome. (PubMed id 17534187)1, 4, 9 Debeer P....Frijns J.P. (2007)
    5. Association of TBX5 gene polymorphism with ventricular septal defect in the Chinese Han population. (PubMed id 19187613)1, 4, 9 Liu C.X....Li Z.Z. (2009)
    6. Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome. (PubMed id 10842287)1, 2, 9 Yang J.... Zhou X. (2000)
    7. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. (PubMed id 8988164)1, 2, 9 Li Q.Y.... Brook J.D. (1997)
    8. Structural basis of TBX5-DNA recognition: the T-box d omain in its DNA-bound and -unbound form. (PubMed id 20450920)1, 2 Stirnimann C.U....MA1ller C.W. (2010)
    9. 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)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6910 HGNC: 11604 AceView: TBX5 Ensembl:ENSG00000089225 euGenes: HUgn6910
    ECgene: TBX5 H-InvDB: TBX5

    (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 TBX5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBX5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TBX5 gene:
    Search GeneIP for patents involving TBX5

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



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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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