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Aliases for TBX20 Gene

Aliases for TBX20 Gene

  • T-Box 20 2 3 5
  • T-Box Protein 20 3 4
  • T-Box Transcription Factor TBX20 3
  • ASD4 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 Patent Foramen Ovale. Among its related pathways are Heart Development and Cardiac Progenitor Differentiation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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 CIViC summary , 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

Enhancers for TBX20 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G035248 1.3 VISTA ENCODE dbSUPER 6 +4.6 4636 2.0 TBP KLF1 SUZ12 TAF1 MAX E2F1 POLR2A ZNF143 ZNF600 KLF7 TBX20 DPY19L1 DPY19L2P1
GH07G035253 1.1 ENCODE dbSUPER 6 +0.0 15 1.1 SIN3A ZNF2 ZNF391 ZNF263 ELF4 ZEB2 REST ZNF623 ZFP69B ZNF341 TBX20 DPY19L1 DPY19L2P1
GH07G035222 0.5 dbSUPER 12.2 +31.0 30986 1.6 ZNF687 SUZ12 CBX2 RBBP5 EZH2 TBX20 DPY19L2P1
GH07G035246 0.4 FANTOM5 9.8 +7.9 7855 0.2 RAD21 TBX20 DPY19L2P1
GH07G035257 0.6 dbSUPER 6.4 -4.4 -4366 2.6 RNF2 SUZ12 CBX2 CBX8 ZNF316 POLR2A HDAC2 EZH2 TBX20 DPY19L1 ENSG00000226063
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBX20 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBX20 Gene

Chromosome:
7
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

Genes around TBX20 on UCSC Golden Path with GeneCards custom track

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

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 & Families for TBX20 Gene

Gene Families for TBX20 Gene

Protein Domains for TBX20 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for TBX20 Gene

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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0001085 RNA polymerase II transcription factor binding IEA,ISS --
GO:0001102 RNA polymerase II activating transcription factor binding ISS,IEA --
genes like me logo Genes that share ontologies with TBX20: view
genes like me logo Genes that share phenotypes with TBX20: view

Human Phenotype Ontology for TBX20 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBX20 Gene

MGI Knock Outs for TBX20:

Animal Model Products

CRISPR Products

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

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for TBX20 Gene

Localization for TBX20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX20 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBX20 gene
Compartment Confidence
nucleus 4
extracellular 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TBX20 Gene

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

Pathways & Interactions 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

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 branching involved in blood vessel morphogenesis IEA --
GO:0001706 endoderm formation ISS --
GO:0001764 neuron migration IEA --
GO:0001947 heart looping IEA,ISS --
genes like me logo Genes that share ontologies with TBX20: view

No data available for SIGNOR curated interactions for TBX20 Gene

Transcripts for TBX20 Gene

mRNA/cDNA for TBX20 Gene

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

Unigene Clusters for TBX20 Gene

T-box 20:
Representative Sequences:

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x26.2), Heart - Left Ventricle (x13.3), and Bladder (x7.7).

Protein differential expression in normal tissues from HIPED for TBX20 Gene

This gene is overexpressed in Heart (37.9), Skin (17.1), and Fetal heart (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TBX20 Gene



Protein tissue co-expression partners for TBX20 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBX20 Gene:

TBX20

SOURCE GeneReport for Unigene cluster for TBX20 Gene:

Hs.404167

Evidence on tissue expression from TISSUES for TBX20 Gene

  • Eye(4)
  • Heart(3.4)
  • Muscle(2.5)
genes like me logo Genes that share expression patterns with TBX20: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.63 (n)
oppossum
(Monodelphis domestica)
Mammalia TBX20 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX20 34 35
  • 91.87 (n)
cow
(Bos Taurus)
Mammalia TBX20 34 35
  • 91.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBX20 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx20 34 16 35
  • 89.21 (n)
chicken
(Gallus gallus)
Aves TBX20 34 35
  • 82.5 (n)
lizard
(Anolis carolinensis)
Reptilia TBX20 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx20 34
  • 78.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia tbx20-A 34
zebrafish
(Danio rerio)
Actinopterygii tbx20 34 35
  • 73.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta org-1 36
  • 64 (a)
CG6634 36
  • 61 (a)
nmr 36
  • 59 (a)
Doc3 36
  • 55 (a)
Doc1 36
  • 54 (a)
Doc2 36
  • 51 (a)
mid 35
  • 34 (a)
OneToMany
H15 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mab-9 36 35
  • 61 (a)
Species where no ortholog for TBX20 was found in the sources mined by GeneCards:
  • 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
rs137852954 Pathogenic, Atrial septal defect 4 (ASD4) [MIM:611363] 35,248,766(-) GACAT(A/C/G)GTCCC reference, synonymous-codon, missense, utr-variant-5-prime
rs267607106 Pathogenic, Atrial septal defect 4 (ASD4) [MIM:611363] 35,249,968(-) ATGAT(C/G)ATCAC upstream-variant-2KB, reference, missense
rs137852955 Pathogenic 35,245,020(-) GTGAG(C/T)AACTA reference, stop-gained, utr-variant-5-prime
rs144597480 Likely benign 35,248,808(+) ACCCC(C/T)GAAAA upstream-variant-2KB, reference, synonymous-codon
rs111862418 Uncertain significance 35,204,548(-) ATTCC(A/G/T)ATGCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TBX20 Gene

Variant ID Type Subtype PubMed ID
dgv1280e214 CNV gain 21293372
nsv981451 CNV duplication 23825009

Variation tolerance for TBX20 Gene

Residual Variation Intolerance Score: 24.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBX20 Gene

Human Gene Mutation Database (HGMD)
TBX20
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBX20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX20 Gene

Disorders for TBX20 Gene

MalaCards: The human disease database

(8) MalaCards diseases for TBX20 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
atrial septal defect 4
  • atrial heart septal defect 4
patent foramen ovale
  • atrial septal defect within oval fossa
isolated nonsyndromic congenital heart disease/defects
heart septal defect
  • cardiac septal defects
atrial heart septal defect
  • atrial septal defect
- elite association - COSMIC cancer census association via MalaCards
Search TBX20 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for TBX20

Genetic Association Database (GAD)
TBX20
Human Genome Epidemiology (HuGE) Navigator
TBX20
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBX20
genes like me logo Genes that share disorders with TBX20: view

No data available for Genatlas for TBX20 Gene

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 64
  2. A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. (PMID: 19762328) Posch M.G. … Ozcelik C. (J. Med. Genet. 2010) 3 4 64
  3. T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease. (PMID: 18834961) Liu C. … Li Z. (Eur J Med Genet 2008) 3 46 64
  4. 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 64
  5. 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 64

Products for TBX20 Gene

Sources for TBX20 Gene

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