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TBX4 Gene

protein-coding   GIFtS: 55
GCID: GC17P059533

T-Box 4

  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)
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Aliases
T-Box 41 2
T-Box Protein 42 3
SPS2
T-Box Transcription Factor TBX42

External Ids:    HGNC: 116031   Entrez Gene: 94962   Ensembl: ENSG000001210757   OMIM: 6017195   UniProtKB: P570823   

Export aliases for TBX4 gene to outside databases

Previous GC identifers: GC17P059297 GC17P062019 GC17P059875 GC17P060008 GC17P056888 GC17P054900


(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 TBX4 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 the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene,
like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in
developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and
specification of limb identity. (provided by RefSeq, Jul 2008)

GeneCards Summary for TBX4 Gene:
TBX4 (T-box 4) is a protein-coding gene. Diseases associated with TBX4 include small patella syndrome, and familial clubfoot due to 17q23.1q23.2 microduplication. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TBX1.

UniProtKB/Swiss-Prot: TBX4_HUMAN, P57082
Function: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably
plays a role in limb pattern formation




(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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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBX4 gene promoter:
         E2F-3a   E2F-4   E2F-5   POU3F1   MyoD   E2F-2   NF-AT   c-Rel   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBX4 promoter sequence
   Search Chromatin IP Primers for TBX4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBX4


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

Entrez Gene cytogenetic band: 17q21-q22   Ensembl cytogenetic band:  17q23.2   HGNC cytogenetic band: 17q21-q22

TBX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBX4 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P059533:  view genomic region     (about GC identifiers)

Start:
59,529,765 bp from pter      End:
59,562,471 bp from pter
Size:
32,707 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TBX4_HUMAN, P57082 (See protein sequence)
Recommended Name: T-box transcription factor TBX4  
Size: 545 amino acids; 60204 Da
Secondary accessions: B2RMT1

Explore the universe of human proteins at neXtProt for TBX4: NX_P57082

Explore proteomics data for TBX4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TBX4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060958.2  
    ENSEMBL proteins: 
     ENSP00000467588   ENSP00000377435   ENSP00000240335  

    TBX4 Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for TBX4

    TBX4 Assay Products:

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    Cloud-Clone Corp. ELISAs for TBX4
    Cloud-Clone Corp. CLIAs for TBX4


    (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

    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 P57082

    ProtoNet protein and cluster: P57082

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


    UniProtKB/Swiss-Prot: TBX4_HUMAN, P57082
    Similarity: Contains 1 T-box DNA-binding domain


    TBX4 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBX4_HUMAN, P57082
    Function: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably
    plays a role in limb pattern formation

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS15106123
    GO:0003700sequence-specific DNA binding transcription factor activity TAS10945475
    GO:0005515protein binding ----
         
    TBX4 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Tbx4):
     cardiovascular system  cellular  embryogenesis  homeostasis/metabolism  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  normal  skeleton 

    TBX4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tbx4tm1.1Pa for TBX4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBX4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TBX4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBX4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBX4

    miRNA
    Products:
        
    miRTarBase miRNAs that target TBX4:
    hsa-mir-181a-5p (MIRT025176)

    Block miRNA regulation of human, mouse, rat TBX4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBX4 (see all 10):
    hsa-miR-125a-5p hsa-miR-1260b hsa-miR-578 hsa-miR-1260 hsa-miR-519e* hsa-miR-515-5p hsa-miR-1184 hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidTBX4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TBX4
    Predesigned siRNA for gene silencing in human, mouse, rat TBX4

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for TBX4

    Clone
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    OriGene clones in human, mouse for TBX4 (see all 7)
    OriGene ORF clones in mouse, rat for TBX4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBX4 (NM_018488)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX4

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TBX4
    Browse ESI BIO Cell Lines and PureStem Progenitors for TBX4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX4


    (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
    TBX4_HUMAN, P57082: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    TBX4 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBX4
    Interactions:

        Search GeneGlobe Interaction Network for TBX4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for TBX4 (P570822, 3 ENSP000002403354) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FAM46AQ96IP43I2D: score=2 
    SMARCA4ENSP000003507204STRING: ENSP00000350720
    SMARCA2ENSP000002657734STRING: ENSP00000265773
    IHHENSP000002957314STRING: ENSP00000295731
    SHHENSP000002972614STRING: ENSP00000297261
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0002009morphogenesis of an epithelium IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated NAS10945475
    GO:0007275multicellular organismal development NAS10945475

    TBX4 for ontologies           About GeneDecksing



    (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 TBX4



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TBX4 gene: 
    NM_018488.2  

    Unigene Cluster for TBX4:

    T-box 4
    Hs.143907  [show with all ESTs]
    Unigene Representative Sequence: BC142620
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000589003 ENST00000393853(uc010ddo.3 uc010woy.2) ENST00000240335(uc002izi.3)
    ENST00000593249 ENST00000590174 ENST00000589449 ENST00000586874
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TBX4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBX4 (see all 10):
    hsa-miR-125a-5p hsa-miR-1260b hsa-miR-578 hsa-miR-1260 hsa-miR-519e* hsa-miR-515-5p hsa-miR-1184 hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidTBX4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TBX4
    Predesigned siRNA for gene silencing in human, mouse, rat TBX4
    Clone
    Products:
         
    OriGene clones in human, mouse for TBX4 (see all 7)
    OriGene ORF clones in mouse, rat for TBX4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBX4 (NM_018488)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX4
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TBX4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBX4
      QuantiTect SYBR Green Assays in human, mouse, rat TBX4
      QuantiFast Probe-based Assays in human, mouse, rat TBX4

    Additional mRNA sequence: 

    AF188703.1 AK310312.1 BC136403.1 BC142620.1 BC144062.1 

    2 DOTS entries:

    DT.65284762  DT.91727322 

    10 AceView cDNA sequences:

    AI205553 NM_018488 AF188703 BM770576 BX381555 BX281440 AA405602 CB989075 
    AI150577 BG900048 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TBX4    About this scheme

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


    ECgene alternative splicing isoforms for TBX4

    (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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    TBX4 expression in normal human tissues (normalized intensities)      TBX4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATGTTTTAT
    TBX4 Expression
    About this image


    TBX4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Limb Bud Mesenchyme Cells Limb Bud
             Limb Bud
     
     Mesoderm (Gastrulation Derivatives)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Progress Zone Cells Limb Bud
             Zeugopod Epiphyseal End
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Progress Zone Cells Limb Bud
     
     Lung (Respiratory System)
             Distal Mesodermal Progenitor Cells Lung Mesoderm
    TBX4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBX4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.143907
        Custom PCR Arrays for TBX4
    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX4

    (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 TBX4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbx41 , 5 T-box 41, 5 88.87(n)1
    93.58(a)1
      11 (51.42 cM)5
    213871  NM_011536.21  NP_035666.21 
     858864225 
    chicken
    (Gallus gallus)
    Aves TBX41 T-box 4 79.78(n)
    86.52(a)
      373989  NM_001030537.1  NP_001025708.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBX46
    T-box 4
    82(a)
    1 ↔ 1
    GL343932.1(6808-15650)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tbx41 T-box 4 74.34(n)
    85.39(a)
      100488041  XM_002933826.2  XP_002933872.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbx42 T-box 4 80.12(n)   30070  AF179406.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Doc13 transcription factor 55(a)
    (best of 3)
      66F2   --


    ENSEMBL Gene Tree for TBX4 (if available)
    TreeFam Gene Tree for TBX4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBX4 gene
    TBX12  TBX222  TBX192  T2  TBX22  TBX62  TBX202  TBX32  
    TBX52  TBX152  TBX102  TBX182  
    10 SIMAP similar genes for TBX4 using alignment to 4 protein entries:     TBX4_HUMAN (see all proteins):
    TBX18    TBX5    DKFZp762H2012    TBX2    TBX1    TBX22
    TBX6    TBX10    T    TBX20

    TBX4 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), 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 TBX4 (see all 660)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289384741,2,,4
    CSmall patella syndrome (SPS)4 pathogenic160573762(+) CAAGGG/TATTCC 2 G V mis1 ese30--------
    rs289366961,2,,4
    CSmall patella syndrome (SPS)4 pathogenic160577315(+) CTTACA/GGTACC 2 Q R mis1 ese30--------
    rs1048946481,2
    Cpathogenic160550392(+) CGGAGC/TAGGTA 2 Q * stg10--------
    rs761576941,2
    C--59536278(+) CGTATG/-GGGTG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs712998151,2
    C--59548904(-) ATGTG-/A/    
       AAAAA
    CAAAA
    1 -- int11NA 2
    rs671748031,2
    C--59555303(+) ATCTC-/A/AA  
            
    AAAAA
    1 -- int11NA 2
    rs558513381,2
    C--59558059(+) TTTGT-/TTGT  
            
    CAAAG
    1 -- int10--------
    rs3697216951,2
    C--59559121(+) GGGTT-/TG    
       T
    /TTG
    TGTTG
    3 -- int1 cds10--------
    rs1112969041,2
    C,F--59559311(+) TTAGTG/AGAGAT 1 -- int12Minor allele frequency- A:0.33CSA 3
    rs49685641,2
    C,A--60548173(+) GACCCC/GGCGGT 1 -- us2k14Minor allele frequency- G:0.24NA WA EA 360

    HapMap Linkage Disequilibrium report for TBX4 (59529765 - 59562471 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TBX4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2113CNV Insertion18451855
    dgv43n68CNV Loss17160897

    Human Gene Mutation Database (HGMD): TBX4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBX4
    DNA2.0 Custom Variant and Variant Library Synthesis for TBX4

    (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.)
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    OMIM gene information: 601719   
    OMIM disorders: 147891  
    UniProtKB/Swiss-Prot: TBX4_HUMAN, P57082
  • Small patella syndrome (SPS) [MIM:147891]: Autosomal dominant skeletal dysplasia characterized by
    patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the
    ischia and inferior pubic rami. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for TBX4 (see all 23):    About MalaCards
    small patella syndrome    familial clubfoot due to 17q23.1q23.2 microduplication    developmental dysplasia of hip    17q23.1q23.2 microdeletion syndrome
    clubfoot    tracheal stenosis    heritable pulmonary arterial hypertension    nail-patella syndrome
    radioulnar synostosis    synostosis    esophageal atresia    ovarian hyperstimulation syndrome
    skeletal dysplasias    microcephaly    sensorineural hearing loss    endometriosis
    esophagitis    hypertension    endotheliitis    thyroiditis

    3 diseases from the University of Copenhagen DISEASES database for TBX4:
    Clubfoot     Radioulnar synostosis     Tracheal stenosis

    TBX4 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for TBX4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypoplasia 37 1 17164415 (1)

    Genetic Association Database (GAD): TBX4
    Human Genome Epidemiology (HuGE) Navigator: TBX4 (7 documents)

    Export disorders for TBX4 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 TBX4 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with TBX4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Virtual cloning and physical mapping of a human T-box gene, TBX4. (PubMed id 10945475)1, 2, 3, 9 Yi C.H.... Brook J.D. (Genomics 2000)
    2. Mutations in the human TBX4 gene cause small patella syndrome. (PubMed id 15106123)1, 2, 9 Bongers E.M.H.F.... van Bokhoven H. (Am. J. Hum. Genet. 2004)
    3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    5. Identification of 15 loci influencing height in a Korean population. (PubMed id 19893584)1, 4 Kim J.J....Lee J.K. (J. Hum. Genet. 2010)
    6. Association of a single nucleotide polymorphism in Tbx4 with developmental dysplasia of the hip: a case-control study. (PubMed id 20887794)1, 4 Wang K....Jiang Q. (Osteoarthr. Cartil. 2010)
    7. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    8. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    9. TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. (PubMed id 23592887)1 Kerstjens-Frederikse W.S....Berger R.M. (J. Med. Genet. 2013)
    10. Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot. (PubMed id 22678995)1 Lu W....Hecht J.T. (Am. J. Med. Genet. A 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 9496 HGNC: 11603 AceView: TBX4 Ensembl:ENSG00000121075 euGenes: HUgn9496
    ECgene: TBX4 H-InvDB: TBX4

    (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 TBX4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TBX4[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 TBX4 gene:
    Search GeneIP for patents involving TBX4

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



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