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Aliases for TBX20 Gene

Aliases for TBX20 Gene

  • T-Box 20 2 3
  • T-Box Protein 20 3 4
  • ASD4 3 6
  • T-Box Transcription Factor TBX20 3

External Ids for TBX20 Gene

Previous GeneCards Identifiers for TBX20 Gene

  • GC07M034889
  • GC07M035013
  • GC07M035044

Summaries for TBX20 Gene

Entrez Gene Summary for TBX20 Gene

  • 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]

GeneCards Summary for TBX20 Gene

TBX20 (T-Box 20) is a Protein Coding gene. Diseases associated with TBX20 include atrial septal defect 4 and isolated nonsyndromic congenital heart disease/defects. Among its related pathways are Heart Development and Cardiac Progenitor Differentiation. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and RNA polymerase II transcription factor binding. An important paralog of this gene is TBX18.

UniProtKB/Swiss-Prot for TBX20 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX20 Gene

Genomics for TBX20 Gene

Regulatory Elements for TBX20 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TBX20 Gene

Start:
35,202,430 bp from pter
End:
35,254,147 bp from pter
Size:
51,718 bases
Orientation:
Minus strand

Genomic View for TBX20 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBX20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBX20 Gene

Proteins for TBX20 Gene

  • Protein details for TBX20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMR3-TBX20_HUMAN
    Recommended name:
    T-box transcription factor TBX20
    Protein Accession:
    Q9UMR3
    Secondary Accessions:
    • A4D1Y6
    • Q000T4
    • Q0IJ70
    • Q0VAS1
    • Q9Y2N5

    Protein attributes for TBX20 Gene

    Size:
    447 amino acids
    Molecular mass:
    49232 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD21787.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAI20946.1; Type=Frameshift; Positions=294; Evidence={ECO:0000305}; Sequence=AAI20946.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAI20947.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

neXtProt entry for TBX20 Gene

Proteomics data for TBX20 Gene at MOPED

Post-translational modifications for TBX20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBX20 Gene

Domains for TBX20 Gene

Gene Families for TBX20 Gene

HGNC:

Protein Domains for TBX20 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UMR3

UniProtKB/Swiss-Prot:

TBX20_HUMAN :
  • Q9UMR3
Domain:
  • Contains 1 T-box DNA-binding domain.
genes like me logo Genes that share domains with TBX20: view

Function for TBX20 Gene

Molecular function for TBX20 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for TBX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 19762328
GO:0001085 RNA polymerase II transcription factor binding ISS --
GO:0001102 RNA polymerase II activating transcription factor binding ISS --
GO:0001105 RNA polymerase II transcription coactivator activity IDA 19762328
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with TBX20: view
genes like me logo Genes that share phenotypes with TBX20: view

Animal Models for TBX20 Gene

MGI Knock Outs for TBX20:

Animal Model Products

CRISPR Products

Targeting motifs for TBX20 Gene
HOMER Transcription Factor Regulatory Elements motif TBX20
  • Consensus sequence: GGTGYTGACAGS Submotif: canonical Cell Type: Heart GeoId: GSE29636

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBX20

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targeting for TBX20 Gene

Localization for TBX20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX20 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBX20 Gene COMPARTMENTS Subcellular localization image for TBX20 gene
Compartment Confidence
nucleus 3
cytosol 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TBX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with TBX20: view

Pathways for TBX20 Gene

genes like me logo Genes that share pathways with TBX20: view

Pathways by source for TBX20 Gene

2 BioSystems pathways for TBX20 Gene

Interacting Proteins for TBX20 Gene

Gene Ontology (GO) - Biological Process for TBX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001569 patterning of blood vessels IEA --
GO:0001706 endoderm formation ISS --
GO:0001764 neuron migration IEA --
GO:0001947 heart looping ISS --
genes like me logo Genes that share ontologies with TBX20: view

Transcripts for TBX20 Gene

mRNA/cDNA for TBX20 Gene

(4) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(3) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TBX20 Gene

T-box 20:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBX20

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TBX20

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBX20 Gene

No ASD Table

Relevant External Links for TBX20 Gene

GeneLoc Exon Structure for
TBX20
ECgene alternative splicing isoforms for
TBX20

Expression for TBX20 Gene

mRNA expression in normal human tissues for TBX20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBX20 Gene

This gene is overexpressed in Heart - Atrial Appendage (26.2), Heart - Left Ventricle (13.3), and Bladder (7.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TBX20 Gene

SOURCE GeneReport for Unigene cluster for TBX20 Gene Hs.404167

genes like me logo Genes that share expressions with TBX20: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for TBX20 Gene

Orthologs for TBX20 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBX20 35
  • 99.63 (n)
  • 100 (a)
TBX20 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBX20 35
  • 91.72 (n)
  • 97.54 (a)
TBX20 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX20 35
  • 91.87 (n)
  • 97.99 (a)
TBX20 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx20 35
  • 89.21 (n)
  • 97.53 (a)
Tbx20 16
Tbx20 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBX20 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBX20 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBX20 35
  • 82.5 (n)
  • 93.41 (a)
TBX20 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBX20 36
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia tbx20-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx20 35
  • 78.18 (n)
  • 90.68 (a)
zebrafish
(Danio rerio)
Actinopterygii tbx20 35
  • 73.62 (n)
  • 85.2 (a)
tbx20 36
  • 87 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta H15 36
  • 30 (a)
OneToMany
mid 36
  • 34 (a)
OneToMany
Doc3 37
  • 55 (a)
CG6634 37
  • 61 (a)
nmr 37
  • 59 (a)
Doc2 37
  • 51 (a)
org-1 37
  • 64 (a)
Doc1 37
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea mab-9 36
  • 44 (a)
OneToOne
mab-9 37
  • 61 (a)
Species with no ortholog for TBX20:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBX20 Gene

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

Paralogs for TBX20 Gene

Paralogs for TBX20 Gene

Pseudogenes.org Pseudogenes for TBX20 Gene

genes like me logo Genes that share paralogs with TBX20: view

Variants for TBX20 Gene

Sequence variations from dbSNP and Humsavar for TBX20 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs336282 -- 35,249,273(+) AAAAG(C/T)AGAGG intron-variant
rs336283 -- 35,253,582(+) GCCCG(A/G)GAGGA synonymous-codon, reference
rs336284 -- 35,254,361(+) GTCTC(A/G)CAGCC upstream-variant-2KB
rs714956 -- 35,250,589(+) CAGTC(C/T)TGCCT intron-variant
rs714957 -- 35,250,636(+) CAAGG(A/G)AGTGA intron-variant

Relevant External Links for TBX20 Gene

HapMap Linkage Disequilibrium report
TBX20
Human Gene Mutation Database (HGMD)
TBX20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TBX20 Gene

Disorders for TBX20 Gene

(1) OMIM Diseases for TBX20 Gene (606061)

UniProtKB/Swiss-Prot

TBX20_HUMAN
  • Atrial septal defect 4 (ASD4) [MIM:611363]: 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. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities. {ECO:0000269 PubMed:17668378, ECO:0000269 PubMed:19762328}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TBX20 Gene

Relevant External Links for TBX20

Genetic Association Database (GAD)
TBX20
Human Genome Epidemiology (HuGE) Navigator
TBX20
genes like me logo Genes that share disorders with TBX20: view

Publications for TBX20 Gene

  1. Characterization of the human TBX20 gene, a new member of the T-box gene family closely related to the Drosophila H15 gene. (PMID: 10936053) Meins M. … Sowden J.C. (Genomics 2000) 2 3 4
  2. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. (PMID: 17668378) Kirk E.P. … Harvey R.P. (Am. J. Hum. Genet. 2007) 3 4

Products for TBX20 Gene

Sources for TBX20 Gene

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