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Aliases for TBX20 Gene

Aliases for TBX20 Gene

  • T-Box 20 2 3 5
  • T-Box Protein 20 3 4
  • 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 isolated nonsyndromic congenital heart disease/defects. Among its related pathways are Cardiac Progenitor Differentiation and Heart Development. 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 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

Promoters for TBX20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

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:

Antibody Products

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

Q9UMR3

UniProtKB/Swiss-Prot:

TBX20_HUMAN :
  • Contains 1 T-box DNA-binding domain.
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.
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

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) , Gene Ontology (GO) - Molecular Function and Transcription Factor Targets 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 4
cytosol 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for TBX20 Gene

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

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:0001764 neuron migration IEA --
GO:0001947 heart looping IEA,ISS --
GO:0003143 embryonic heart tube morphogenesis IEA,ISS --
GO:0003148 outflow tract septum morphogenesis IEA,IMP 18275040
genes like me logo Genes that share ontologies with TBX20: view

No data available for SIGNOR curated interactions for TBX20 Gene

Drugs & Compounds for TBX20 Gene

No Compound Related Data Available

Transcripts for TBX20 Gene

mRNA/cDNA for TBX20 Gene

(3) 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 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 and MOPED for TBX20 Gene



SOURCE GeneReport for Unigene cluster for TBX20 Gene Hs.404167

genes like me logo Genes that share expression patterns with TBX20: view

Protein tissue co-expression partners for TBX20 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia TBX20 35
  • 99.63 (n)
  • 100 (a)
TBX20 36
  • 100 (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
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx20 35
  • 78.18 (n)
  • 90.68 (a)
African clawed frog
(Xenopus laevis)
Amphibia tbx20-A 35
zebrafish
(Danio rerio)
Actinopterygii tbx20 35
  • 73.62 (n)
  • 85.2 (a)
tbx20 36
  • 87 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6634 37
  • 61 (a)
Doc1 37
  • 54 (a)
Doc2 37
  • 51 (a)
Doc3 37
  • 55 (a)
nmr 37
  • 59 (a)
org-1 37
  • 64 (a)
H15 36
  • 30 (a)
OneToMany
mid 36
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mab-9 37
  • 61 (a)
mab-9 36
  • 44 (a)
OneToOne
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
VAR_036995 Atrial septal defect 4 (ASD4)
VAR_073144 Atrial septal defect 4 (ASD4)
rs336282 -- 35,249,273(+) AAAAG(C/T)AGAGG intron-variant
rs336283 -- 35,253,582(+) GCCCG(A/G)GAGGA reference, synonymous-codon
rs336284 -- 35,254,361(+) GTCTC(A/G)CAGCC upstream-variant-2KB

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

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

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
atrial septal defect 4
  • asd4
isolated nonsyndromic congenital heart disease/defects
patent foramen ovale
  • atrial septal defect within oval fossa
acute stress disorder
  • traumatic stress disorder
heart septal defect
  • cardiac septal defects
- 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 67
  2. TBX20 loss-of-function mutation contributes to double outlet right ventricle. (PMID: 25625280) Pan Y. … Liu X.Y. (Int. J. Mol. Med. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect. (PMID: 25183037) Liu J.J. … Yang Y.F. (J Zhejiang Univ Sci B 2014) 3
  5. Tbx20 functions as an important regulator of estrogen-mediated cardiomyocyte protection during oxidative stress. (PMID: 23871353) Shen T. … Li J. (Int. J. Cardiol. 2013) 3

Products for TBX20 Gene

Sources for TBX20 Gene

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