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

TBX5 Gene

protein-coding   GIFtS: 64
GCID: GC12M114791

T-box 5


(Previous symbol: HOS)
 Explore 27 diseases affiliated with
TBX5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TBX5    

Aliases
for TBX5 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 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


Summaries
for TBX5 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 TBX5:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  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

Proteins
for TBX5 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: 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)
2 PDB 3D structures from and Proteopedia for TBX5:
2X6U (3D)        2X6V (3D)    
Secondary accessions: O15301 Q9Y4I2
Alternative splicing: 2 isoforms:  Q99593-1   Q99593-2   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99593

    • TBX5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals TBX5 Proteins
    Novus Biologicals TBX5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for TBX5

    Protein Domains /
    Families
    for TBX5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TBX5 for domains           About GeneDecksing

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


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


    Function
    for TBX5 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: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX5
    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 plasmid: TBX5 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): TBX5 (NM_181486)
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    In Situ Assay
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    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


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

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


    Pathways & Interactions
    for TBX5 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
    1Generic Transcription Pathway
    		Generic Transcription Pathway1.00
    		Gene Expression0.46
    2Heart Development
    		Heart Development1.00
    3YAP1- and WWTR1 (TAZ)-stimulated gene expression
    		YAP1- and WWTR1 (TAZ)-stimulated gene expression1.00
    4Human Embryonic Stem Cell Pluripotency
    		Factors Promoting Cardiogenesis in Vertebrates0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    1 BioSystems Pathway for TBX5 
        Heart Development

    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)

    5/9 Interacting proteins for TBX5 (Q995931, 3 ENSP000003099134) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    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
    KAT2BENSP000002637544STRING: ENSP00000263754
    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



    Drugs & Compounds
    for TBX5 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

    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 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 

    Transcripts
    for TBX5 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 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX5
    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 plasmid: TBX5 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX5 (see all 7)
    OriGene shRNA RFP: TBX5
    OriGene siRNA: TBX5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX5
    Clone
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    Primer
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    Additional cDNA 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_080717 AF221714 NM_080718 NM_181486 U80987 NM_000192 AB051068 U89353 
    BI769267 BX378377 AA358451 AA909517 CB960757 AA971143 BX089920 CB988702 
    AA247888 AW269421 AI822068 AI143430 BC027942 CB960910 BM972576 BF105934 

    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

    Expression
    for TBX5 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

    TBX5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATGAAACC

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

    TBX5 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 ValvesAtrioventricular Valve CellsEndocardium, Myocardium
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    HeartEpicardiumEpicardial Progenitors CellsEpicardium
    HeartInflow TractInflow ProgenitorsMyocardium
    HeartInterventricular SeptumVentricular Septum CellsMyocardium
    HeartLeft AtriumCardiomyocytesMyocardium
    HeartLeft VentricleCardiomyocytesMyocardium
    HeartRight AtriumCardiomyocytesMyocardium
    Lateral Plate MesodermProepicardiumProepicardial Progenitor cellsEpicardium
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    Yolk sac (Scl -/-) (Primary Cell)Extraembryonic Tissues
    Skeletal myocytes (Generation of skelet...)
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)
    Beating cell clusters (Spontaneous differen...)

    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:     
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    Orthologs
    for TBX5 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 chordates.

    Orthologs for TBX5 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 82(a)
    		 1 ↔ 1
    		 GL343338.1(1127641-1154021)
    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 


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

    Paralogs
    for TBX5 gene

    (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  
    TBX32  TBX202  TBX102  TBX42  TBX152  TBR12  TBX182  
    14 SIMAP similar genes for TBX5 using alignment to 3 protein entries:     TBX5_HUMAN (see all proteins):
    TBX4    TBX6    MGA    TBX18    TBX1    TBR1
    TBX20    T    TBX10    TBX15    TBX19    DKFZp762H2012
    TBX2    EOMES

    TBX5 for paralogs           About GeneDecksing



    Genomic Variants
    for TBX5 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

    10/1160 NCBI SNPs in TBX5 are shown (see all 1160)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048943781,2
    		Cpathogenic114823326(-) ATTTCA/GGGGCA 6 Q R mis10--------
    rs1048943821,2
    		Cpathogenic114823327(-) GATTTC/TGGGGC 6 R W mis10--------
    rs1048943811,2
    		Cpathogenic114839635(-) AGGCTA/GGAAGG 6 R G mis10--------
    rs1048943771,2
    		Cpathogenic114839668(-) TCCACG/TAAGTG 6 E * stg10--------
    rs1048943841,2
    		Cpathogenic114839712(-) GGGAAC/TCAAAG 6 T I mis10--------
    rs1048943831,2
    		Cpathogenic114841559(-) CCCAGA/CAGGTA 5 K Q int1 mis10--------
    rs753345141,2
    		C--111801360(+) NNNNAT/ATTCTT 1 -- ut311Minor allele frequency- A:0.00NA 2
    rs732014851,2
    		C,F,--114791319(+) TCTGAT/CTCACT 3 -- ds50011Minor allele frequency- C:0.03NA 120
    rs1880968711,2
    		--114791330(+) GATGGC/TTCATA 3 -- ds50010--------
    rs73169191,2
    		C,F,H,--114791455(+) TAAATA/CGGTTG 3 -- ds500126Minor allele frequency- N:0.01EA NA NS WA CSA 2461

    HapMap Linkage Disequilibrium report for TBX5 (114791735 - 114846247 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TBX5: --
    Human Gene Mutation Database (HGMD): TBX5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBX5
    DNA2.0 Custom Variant and Variant Library Synthesis for TBX5

    Disorders / Diseases
    for TBX5 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
    TBX5 for disorders           About GeneDecksing

    OMIM gene information: 601620   
    OMIM disorders: 142900  
    UniProtKB/Swiss-Prot: TBX5_HUMAN, Q99593
  • Defects in TBX5 are the cause of Holt-Oram syndrome (HOS) [MIM:142900]. HOS is a developmental disorder
    • affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects

    20/27 diseases for TBX5 (see all 27):    About MalaCards
    holt-oram syndrome    ulnar-mammary syndrome    mayer-rokitansky-kuster-hauser syndrome    rokitansky-kuster-hauser syndrome
    acro-renal-ocular syndrome    atrioventricular septal defect    ventricular septal defect    patent ductus arteriosus
    murcs association    developmental disabilities    short stature    craniofacial anomalies
    digeorge syndrome    congenital heart defect    atrial fibrillation    velocardiofacial syndrome
    lung agenesis    essential hypertension    coloboma    embryonal carcinoma

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

    10/17 Novoseek 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
    TBX5-Related Holt-Oram Syndrome

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

    Export disorders for TBX5 gene to outside databases

    Publications
    for TBX5 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 TBX5 gene, integrated from 9 sources (see all 155):
    (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. Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome. (PubMed id 10842287)1, 2, 9 Yang J.... Zhou X. (2000)
    5. 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)
    6. 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)
    7. 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)
    8. The mutation spectrum in Holt-Oram syndrome. (PubMed id 11183182)1, 2 Cross S.J.... Gardiner C.A. (2000)
    9. Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. (PubMed id 8054982)1, 3 Terrett J.A....Brook J.D. (1994)
    10. Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. (PubMed id 12499378)1, 9 Fan C....Wang Q. (2003)

    External Searches for TBX5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TBX5 gene

    (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

    Other Databases showing TBX5 gene

    (According to HUGE)
    About This Section
    		   --

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

    Intellectual Property
    for TBX5 gene

    (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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