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

TBX20 Gene

protein-coding   GIFtS: 52
GCID: GC07M035237

T-box 20
 Explore 6 diseases affiliated with
TBX20 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TBX20    

Aliases
for TBX20 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 201 2
T-Box Protein 202 3
ASD42 5
T-Box Transcription Factor TBX202

External Ids:    HGNC: 115981   Entrez Gene: 570572   Ensembl: ENSG000001645327   OMIM: 6060615   UniProtKB: Q9UMR33   

Export aliases for TBX20 gene to outside databases

Previous GC identifers: GC07M034889 GC07M035013 GC07M035044


Summaries
for TBX20 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 TBX20:
This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box,
and they are transcription factors involved in the regulation of developmental processes. This gene is essential for
heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in
septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms
have been found for this gene. (provided by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: TBX20_HUMAN, Q9UMR3
Function: Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in
the maintenance of functional and structural phenotypes in adult heart (By similarity)




Genomic Views
for TBX20 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_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBX20 gene promoter:
         SRF   AREB6   POU2F1   SRF (504 AA)   Nkx2-5   ATF6   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TBX20 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBX20

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBX20


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

Entrez Gene cytogenetic band: 7p14.3   Ensembl cytogenetic band:  7p14.2   HGNC cytogenetic band: 7p14.3

TBX20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBX20 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M035237:  view genomic region     (about GC identifiers)

Start:
 35,242,042 bp from pter      End:
 35,293,758 bp from pter
Size:
 51,717 bases      Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 35,281,142-35,332,810     

Proteins
for TBX20 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: TBX20_HUMAN, Q9UMR3 (See protein sequence)
Recommended Name: T-box transcription factor TBX20  
Size: 447 amino acids; 49232 Da
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=AAD21787.1; Type=Erroneous gene model prediction; Sequence=AAI20946.1; Type=Frameshift;
Positions=294; Sequence=AAI20946.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=AAI20947.1;
Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: A4D1Y6 Q000T4 Q0IJ70 Q0VAS1 Q9Y2N5

Explore the universe of human proteins at neXtProt for TBX20: NX_Q9UMR3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UMR3

    • TBX20 Protein expression data from MOPED and PaxDb:    About this image 
    TBX20 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001071121.1  NP_001159692.1  

    ENSEMBL proteins: 
     ENSP00000386170  

    Human Recombinant Protein Products for TBX20: 
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    OriGene Purified Proteins (see all 2): TBX20
    OriGene Protein Over-expression Lysate (see all 3): TBX20
    OriGene Custom Protein Services for TBX20 
    GenScript Custom Purified and Recombinant Proteins Services for TBX20
    Novus Biologicals TBX20 Protein
    Novus Biologicals TBX20 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TBX20

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--

    TBX20 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TBX20

    Protein Domains /
    Families
    for TBX20 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TBX20 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 Q9UMR3

    ProtoNet protein and cluster: Q9UMR3

    1 Blocks protein family: IPB001699 Transcription factor

    UniProtKB/Swiss-Prot: TBX20_HUMAN, Q9UMR3
    Similarity: Contains 1 T-box DNA-binding domain


    Function
    for TBX20 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBX20_HUMAN, Q9UMR3
    Function: Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in
    the maintenance of functional and structural phenotypes in adult heart (By similarity)

         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 IDA19762328
    GO:0001085RNA polymerase II transcription factor binding ISS--
    GO:0001102RNA polymerase II activating transcription factor binding ISS--
    GO:0001105RNA polymerase II transcription coactivator activity IDA19762328
    GO:0003677DNA binding ----
         
    TBX20 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TBX20:
     Synthetic lethal with Ras 

         8 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Tbx20):
     cardiovascular system  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     mortality/aging  muscle  no phenotypic analysis 

    TBX20 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Tbx20tm1.1Sev for TBX20
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TBX20 

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX20
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate TBX20
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    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 TBX20 (see all 7)
    OriGene shRNA RFP: TBX20
    OriGene siRNA: TBX20
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX20
    Sirion Biotech Custom design and validation of potent shRNA sequences against TBX20 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TBX20
    Sirion Biotech Customized adenovirus for overexpression of TBX20 
    Sirion Biotech Customized adenovirus for potent knockdown of TBX20

    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 TBX20 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBX20 (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): TBX20 (NM_001077653)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX20
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX20 

    Cell Line
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    Search LifeMap BioReagents cell lines for TBX20
    Sirion Biotech Customized stable knockdown cell line services for TBX20 
    Sirion Biotech Customized inducible knockdown cell line services for TBX20
    Sirion Biotech Customized stable overexpressing cell line services for TBX20
    Sirion Biotech Customized inducible overexpressing cell line services for TBX20

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX20


    Pathways & Interactions
    for TBX20 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
    1Heart Development
    		Heart Development1.00


    1 BioSystems Pathway for TBX20 
        Heart Development


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBX20

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for TBX20 (Q9UMR33 ENSP000003861704) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZSCAN1Q8NBB43, ENSP000002823264I2D: score=1 STRING: ENSP00000282326
    SMAD1Q157973I2D: score=1 
    SMAD5Q997173I2D: score=1 
    About this table

    Gene Ontology (GO): 5/35 biological process terms (GO ID links to tree view) (see all 35):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001569patterning of blood vessels IEA--
    GO:0001706endoderm formation ISS--
    GO:0001764neuron migration IEA--
    GO:0001947heart looping ISS--

    TBX20 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TBX20 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 TBX20
    Search CenterWatch for drugs/clinical trials and news about TBX20 

    Transcripts
    for TBX20 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, Sirion Biotech, 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 TBX20 gene (3 alternative transcripts): 
    NM_001077653.2  NM_001166220.1  NM_020417.1  

    Unigene Cluster for TBX20:

    T-box 20
    Hs.404167  [show with all ESTs]
    Unigene Representative Sequence: DQ986374
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000408931(uc011kas.2) ENST00000492961

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX20
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate TBX20
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    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 TBX20 (see all 7)
    OriGene shRNA RFP: TBX20
    OriGene siRNA: TBX20
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX20
    Sirion Biotech Custom design and validation of potent shRNA sequences against TBX20 
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBX20 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBX20 (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): TBX20 (NM_001077653)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX20
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX20 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBX20
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TBX20
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX20
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX20

    Additional cDNA sequence: 

    AJ237589.1 BC120945.1 BC120946.1 DQ986374.1 

    1 DOTS entry:

    DT.91906257 

    3 AceView cDNA sequences:

    NM_020417 AJ237589 BP872586 

    GeneLoc Exon Structure


    Expression
    for TBX20 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

    TBX20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    TBX20 Expression
    About this image

    TBX20 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/15 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 15) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    HeartHeart TubeHeart Tube CellsMyocardium
    HeartMyocardiumCardiomyocytesMyocardium
    HeartOuter CurvatureCardiomyocytesMyocardium
    HeartOutflow TractCardiomyocytesMyocardium
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    HeartRight VentricleCardiomyocytesMyocardium
    Lateral Plate MesodermCardiogenic MesodermPre-endocardial CellsEndocardium
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    HeartAtrioventricular Endocardial CushionEndocardial Cushion CellsEndocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    Trophoblast-like cells (Generation of tropho...)
    Definitive endoderm-like cells (Generation and expan...)
    Endoderm progenitor-like cells (Generation and expan...)
    DKK1-induced cells (Derivation of cardio...)
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)
    Mesoderm-like cells (Derivation of cardio...)

    See TBX20 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBX20

    SOURCE GeneReport for Unigene cluster: Hs.404167
        SABiosciences Custom PCR Arrays for TBX20
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX20

    Orthologs
    for TBX20 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 animals.

    Orthologs for TBX20 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves TBX201 T-box 20 82.73(n)
    93.86(a)    		   373943  NM_204144.1  NP_989475.1 
    lizard
    (Anolis carolinensis)    		 Reptilia TBX206
    		 --
    		 92(a)
    		 1 ↔ 1
    		 6(46249211-46307521)
    African clawed frog
    (Xenopus laevis)    		 Amphibia tbx20-A2 T-box 20 77.68(n)    AY154394.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii tbx202 T-box 20 78.73(n)   57936  AF239664.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta org-13
    H151    		 transcription factor3
    CG6604-PA1    		 64(a)
    (best of 6)3
    60.43(n)1
    63.01(a)1    		   337691  NM_135082.21  NP_608926.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea mab-93 transcription regulator 61(a)   II(516155-521443)   --


    ENSEMBL Gene Tree for TBX20 (if available)
    TreeFam Gene Tree for TBX20 (if available) 

    Paralogs
    for TBX20 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBX20 gene
    TBX12  TBX222  TBX192  T2  EOMES2  TBX22  TBX62  TBX212  
    TBX32  TBX52  TBX102  TBX42  TBR12  TBX152  TBX182  
    11 SIMAP similar genes for TBX20 using alignment to 11 protein entries:     TBX20_HUMAN (see all proteins):
    TBX2    TBX18    TBX6    MGA    TBX5    T
    TBX10    TBX15    TBX22    TBX4    TBX1

    TBX20 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TBX20
    PGOHUM00000239491


    Genomic Variants
    for TBX20 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

    10/961 NCBI SNPs in TBX20 are shown (see all 961)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs18342961,2
    		H--35151209(+) GCCAAT/CGTTCA 1 -- int14Minor allele frequency- C:0.00NS EA 414
    rs133125111,2
    		--35151790(+) AAATAA/TAAGCA 2 -- ds5001 int10--------
    rs133121461,2
    		--35151804(+) TACTAC/TATTGG 2 -- int1 ds50010--------
    rs133121921,2
    		--35151851(+) TGTTTC/TAAAAT 2 -- ds5001 int10--------
    rs133122941,2
    		--35151914(+) TAAAAA/GGCTAT 2 -- int1 ds50010--------
    rs133122041,2
    		--35151922(+) TATCAA/CGGTTC 2 -- int1 ds50010--------
    rs133123201,2
    		H--35151929(+) GTTCTG/ATTTCT 2 -- ds5001 int14Minor allele frequency- A:0.00NS EA 418
    rs133126031,2
    		--35151938(+) CTCTAC/TAGACT 2 -- int1 ds50010--------
    rs133122391,2
    		--35151960(+) AGACAC/TGAAGC 2 -- ds5001 int10--------
    rs133123261,2
    		--35151970(+) CTTAAA/GAATGT 2 -- int1 ds50010--------

    HapMap Linkage Disequilibrium report for TBX20 (35242042 - 35293758 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TBX20: --
    Human Gene Mutation Database (HGMD): TBX20

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBX20
    DNA2.0 Custom Variant and Variant Library Synthesis for TBX20

    Disorders / Diseases
    for TBX20 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TBX20 for disorders           About GeneDecksing

    OMIM gene information: 606061   
    OMIM disorders: 611363  
    UniProtKB/Swiss-Prot: TBX20_HUMAN, Q9UMR3
  • Defects in TBX20 are the cause of atrial septal defect type 4 (ASD4) [MIM:611363]. ASD4 is a congenital heart
    • malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left
    to the right atria. ASD4 patients show other heart abnormalities including defects in septation, chamber growth and
    valvulogenesis. ASD4 is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities

    6 diseases for TBX20:    About MalaCards
    patent foramen ovale    atrial septal defect 4    cardiomyopathy    hermaphroditism
    pharyngitis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for TBX20:
    Congenital heart defect     Acute stress disorder
    Human Genome Epidemiology (HuGE) Navigator: TBX20 (2 documents)

    Export disorders for TBX20 gene to outside databases

    Publications
    for TBX20 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 TBX20 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with TBX20)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human TBX20 gene, a new member of the T-box gene family closely related to the Drosophila H15 gene. (PubMed id 10936053)1, 2, 3 Meins M.... Sowden J.C. (2000)
    2. Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. (PubMed id 17668378)1, 2 Kirk E.P.... Harvey R.P. (2007)
    3. 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)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    6. Genetic analysis of the TBX20 gene promoter region in patients with ventricular septal defects. (PubMed id 22465533)1 Qiao Y....Yan B. (2012)
    7. Characterization of the novel interaction between mus kelin and TBX20, a critical cardiogenic transcription factor. (PubMed id 21586270)1 Debenedittis P....Jiao K. (2011)
    8. A gain-of-function TBX20 mutation causes congenital a trial septal defects, patent foramen ovale and cardiac valve defects. (PubMed id 19762328)1 Posch M.G....Ozcelik C. (2010)
    9. Common variants in 22 loci are associated with QRS du ration and cardiac ventricular conduction. (PubMed id 21076409)1 Sotoodehnia N....Arking D.E. (2010)
    10. Replication of previous genome-wide association studi es of bone mineral density in premenopausal American women. (PubMed id 20200978)1 Ichikawa S....Econs M.J. (2010)

    External Searches for TBX20 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing TBX20 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57057 HGNC: 11598 AceView: TBX20 Ensembl:ENSG00000164532 euGenes: HUgn57057
    ECgene: TBX20 H-InvDB: TBX20

    Other Databases showing TBX20 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TBX20 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 TBX20 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TBX20 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TBX20 gene:
    Search GeneIP for patents involving TBX20

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



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