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

TBX4 Gene

protein-coding   GIFtS: 51
GCID: GC17P059533

T-box 4
 Explore 17 diseases affiliated with
TBX4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TBX4    

Aliases
for TBX4 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 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


Summaries
for TBX4 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 TBX4:
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)

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




Genomic Views
for TBX4 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_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 plasmid: TBX4 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBX4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for TBX4 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: TBX4_HUMAN, P57082 (See protein sequence)
Recommended Name: T-box transcription factor TBX4  
Size: 545 amino acids; 60204 Da
Subcellular location: Nucleus (Potential)
Secondary accessions: B2RMT1

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P57082

    • TBX4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TBX4

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

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


    TBX4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TBX4

    Protein Domains /
    Families
    for TBX4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TBX4 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 P57082

    ProtoNet protein and cluster: P57082

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


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


    Function
    for TBX4 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: TBX4_HUMAN, P57082
    Function: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a
    role in limb pattern formation

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX4
    8/10 QIAGEN miScript miRNA 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 plasmid: TBX4 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX4 (see all 7)
    OriGene shRNA RFP: TBX4
    OriGene siRNA: TBX4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX4

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TBX4

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBX4 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX4 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for TBX4
    Search LifeMap BioReagents cell lines for TBX4

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX4

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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


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


    Pathways & Interactions
    for TBX4 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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBX4

    3 Interacting proteins for TBX4 (P570822, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FAM46AQ96IP43I2D: score=2 
    --Q5TF853, 2MINT-60903 I2D: score=2 
    --Q5TF853, 2MINT-60903 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

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


    TBX4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TBX4 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBX4
    Search CenterWatch for drugs/clinical trials and news about TBX4 

    Transcripts
    for TBX4 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 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:             		 OriGene 3'-UTR Clone: TBX4
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX4
    8/10 QIAGEN miScript miRNA 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 plasmid: TBX4 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX4 (see all 7)
    OriGene shRNA RFP: TBX4
    OriGene siRNA: TBX4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX4
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBX4 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for TBX4
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TBX4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX4

    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.65284762  DT.91727322 

    10 AceView cDNA sequences:

    AF188703 AI205553 NM_018488 AA405602 BM770576 BX281440 BX381555 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

    Expression
    for TBX4 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

    TBX4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATGTTTTAT

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

    TBX4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    LungLung MesodermDistal Mesodermal Progenitor CellsLung
    PlacentaChorioallantoic PlacentaExtraembryonic AngioblastsEndothelium
    BoneZeugopod Epiphyseal EndBone
    LimbLimb BudLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Mesendoderm cells (Generation of skelet...)
    Trophoblast-like cells (Generation of tropho...)
    Primordial germ cell-like cells (Reconstitution of mo...)

    See TBX4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBX4

    SOURCE GeneReport for Unigene cluster: Hs.143907
        SABiosciences Custom PCR Arrays for TBX4
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX4
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX4

    Orthologs
    for TBX4 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 TBX4 gene from 3/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 99(a)
    82(a)
    		 1 ↔ 1
    possible ortholog
    		 AAWZ02038832(947-1667)
    GL343932.1(7226-12397)
    zebrafish
    (Danio rerio)    		 Actinopterygii tbx42 T-box 4 80.12(n)   30070  AF179406.1 


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

    Paralogs
    for TBX4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBX4 gene
    TBX12  TBX222  TBX192  T2  EOMES2  TBX22  TBX62  TBX212  
    TBX32  TBX202  TBX52  TBX102  TBX152  TBR12  TBX182  
    12 SIMAP similar genes for TBX4 using alignment to 4 protein entries:     TBX4_HUMAN (see all proteins):
    TBX5    DKFZp762H2012    TBX2    TBX18    TBX1    TBX22
    TBX6    TBX10    T    TBX20    TBX19    TBX15

    TBX4 for paralogs           About GeneDecksing



    Genomic Variants
    for TBX4 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

    10/501 NCBI SNPs in TBX4 are shown (see all 501)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289366961,2
    		Cpathogenic61625375(+) CTTACA/GGTACC 2 Q R mis1 ese32Minor allele frequency- G:0.00NA 4
    rs1048946481,2
    		Cpathogenic61652177(+) CGGAGC/TAGGTA 2 Q * stg10--------
    rs49685641,2
    		C,A,--54898274(+) GACCCC/GGCGGT 1 -- us2k14Minor allele frequency- G:0.24NA WA EA 360
    rs124527251,2
    		C,H,--54898341(+) CGCCCC/TGGGCC 1 -- us2k10--------
    rs728346841,2
    		C,--54899545(+) GAACTC/TGAGCA 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs733345441,2
    		C,--54899669(+) TCTGTG/TCCAGA 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs755142331,2
    		F,--54899724(+) GCCTTT/CGGTTC 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs1132698411,2
    		C,--54900010(+) AGCTGT/CGGCAA 1 -- us2k12Minor allele frequency- C:0.03NA 122
    rs749036431,2
    		F,--54901804(+) AATGCA/GTTGAT 1 -- int11Minor allele frequency- G:0.04WA 118
    rs582468851,2
    		C,--54902659(+) CTCAGC/TTCTGC 1 -- int11Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for TBX4 (59529765 - 59562471 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TBX4: --
    Human Gene Mutation Database (HGMD): TBX4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBX4
    DNA2.0 Custom Variant and Variant Library Synthesis for TBX4

    Disorders / Diseases
    for TBX4 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
    TBX4 for disorders           About GeneDecksing

    OMIM gene information: 601719   
    OMIM disorders: 147891  
    UniProtKB/Swiss-Prot: TBX4_HUMAN, P57082
  • Defects in TBX4 are the cause of small patella syndrome (SPS) [MIM:147891]; also known as ischiopatellar
    • dysplasia or Scott-Taor syndrome. SPS is an 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

    17 diseases for TBX4:    About MalaCards
    nail-patella syndrome    radioulnar synostosis    developmental dysplasia of hip    small patella syndrome
    tracheal stenosis    synostosis    chronic obstructive pulmonary disease    ovarian hyperstimulation syndrome
    esophageal atresia    pulmonary disease    pulmonary hypertension    microcephaly
    hypertension    endometriosis    pharyngitis    esophagitis
    thyroiditis

    2 diseases from the University of Copenhagen DISEASES database for TBX4:
    Clubfoot     Radioulnar synostosis

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: TBX4 (7 documents)

    Export disorders for TBX4 gene to outside databases

    Publications
    for TBX4 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)
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    PubMed articles for TBX4 gene, integrated from 9 sources (see all 32):
    (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. (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. (2004)
    3. Studies of TBX4 and chromosome 17q23.1q23.2: an uncomm on cause of nonsyndromic clubfoot. (PubMed id 22678995)1 Lu W....Hecht J.T. (2012)
    4. Microdeletion of 17q22q23.2 encompassing TBX2 and TBX 4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural h earing loss, and pulmonary hypertension. (PubMed id 21271665)1 Nimmakayalu M....Shchelochkov O.A. (2011)
    5. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1 Zhao J....Grant S.F. (2010)
    6. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1 Jugessur A....Murray J.C. (2010)
    7. Identification of 15 loci influencing height in a Kor ean population. (PubMed id 19893584)1 Kim J.J....Lee J.K. (2010)
    8. Association of a single nucleotide polymorphism in Tb x4 with developmental dysplasia of the hip: a case-control study. (PubMed id 20887794)1 Wang K....Jiang Q. (2010)
    9. 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 Yerges L.M....Zmuda J.M. (2009)
    10. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1 Gudbjartsson D.F....Stefansson K. (2008)

    External Searches for TBX4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing TBX4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9496 HGNC: 11603 AceView: TBX4 Ensembl:ENSG00000121075 euGenes: HUgn9496
    ECgene: TBX4 H-InvDB: TBX4

    Other Databases showing TBX4 gene

    (According to HUGE)
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    Specialized Databases showing TBX4 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 TBX4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBX4

    Intellectual Property
    for TBX4 gene

    (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:
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