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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. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II transcription factor binding. An important paralog of this gene is TBX15.

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.

Additional gene information for TBX20 Gene

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

GeneHancer (GH) Regulatory Elements for TBX20 Gene

Promoters and enhancers for TBX20 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I035253 Promoter/Enhancer 1.5 EPDnew ENCODE dbSUPER 556.1 +0.0 15 1.1 ZBTB6 SUZ12 SIN3A ZIC2 ZNF2 ZNF335 FOXM1 POLR2A ZBTB48 ZNF391 TBX20 DPY19L1 GC07M035200 DPY19L2P1
GH07I035248 Enhancer 1.1 VISTA ENCODE dbSUPER 6.1 +4.6 4635 2 KLF1 ZNF449 SUZ12 MAX ZNF335 E2F1 ZNF213 POLR2A ZNF143 KLF7 TBX20 DPY19L1 GC07M035200 DPY19L2P1
GH07I035222 Enhancer 0.3 dbSUPER 12.2 +31.0 30986 1.6 ZNF687 TBX20 DPY19L2P1 GC07M035200
GH07I035259 Enhancer 0.5 dbSUPER 5.9 -7.2 -7156 2.7 CTCF USF1 SUZ12 MAX EZH2 ENSG00000226063 TBX20 GC07M035200
GH07I035257 Enhancer 0.4 dbSUPER 6.5 -4.4 -4365 2.6 POLR2A SUZ12 EZH2 ENSG00000226063 TBX20 DPY19L1 GC07M035200
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBX20 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBX20 gene promoter:

Genomic Locations for TBX20 Gene

Genomic Locations for TBX20 Gene
chr7:35,202,430-35,254,147
(GRCh38/hg38)
Size:
51,718 bases
Orientation:
Minus strand
chr7:35,242,042-35,293,758
(GRCh37/hg19)

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

No Post-translational modifications

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

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.

Phenotypes From GWAS Catalog for TBX20 Gene

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 IEA,IDA 19762328
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001085 RNA polymerase II transcription factor binding IEA,ISS --
GO:0001102 RNA polymerase II activating transcription factor binding IEA,ISS --
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:
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,IEA --
GO:0005737 cytoplasm IEA,ISS --
genes like me logo Genes that share ontologies with TBX20: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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

Gene Ontology (GO) - Biological Process for TBX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II 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

Drugs & Compounds for TBX20 Gene

No Compound Related Data Available

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(3.5)
  • Muscle(2.5)
genes like me logo Genes that share expression patterns with TBX20: view

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 33 34
  • 99.63 (n)
oppossum
(Monodelphis domestica)
Mammalia TBX20 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBX20 33 34
  • 91.87 (n)
cow
(Bos Taurus)
Mammalia TBX20 33 34
  • 91.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBX20 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbx20 33 16 34
  • 89.21 (n)
chicken
(Gallus gallus)
Aves TBX20 33 34
  • 82.5 (n)
lizard
(Anolis carolinensis)
Reptilia TBX20 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx20 33
  • 78.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia tbx20-A 33
zebrafish
(Danio rerio)
Actinopterygii tbx20 33 34
  • 73.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta org-1 35
  • 64 (a)
CG6634 35
  • 61 (a)
nmr 35
  • 59 (a)
Doc3 35
  • 55 (a)
Doc1 35
  • 54 (a)
Doc2 35
  • 51 (a)
mid 34
  • 34 (a)
OneToMany
H15 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mab-9 35 34
  • 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 Variation AA Info Type
rs111862418 uncertain-significance, Atrial septal defect 4 35,204,548(-) A/C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs137852954 pathogenic, Atrial septal defect 4, Atrial septal defect 4 (ASD4) [MIM:611363] 35,248,766(-) G/A/C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, synonymous_variant
rs137852955 pathogenic, Atrial septal defect 4 35,245,020(-) G/A 5_prime_UTR_variant, coding_sequence_variant, stop_gained
rs144597480 likely-benign, Cardiovascular phenotype 35,248,808(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs267607106 pathogenic, Atrial septal defect 4, Atrial septal defect 4 (ASD4) [MIM:611363] 35,249,968(-) G/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
atrial septal defect 4
  • asd4
patent foramen ovale
  • atrial septal defect within oval fossa
heart septal defect
  • cardiac septal defects
atrial heart septal defect
  • atrial septal defect
conotruncal heart malformations
  • cthm
- 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.

Additional Disease Information for TBX20

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JC (Genomics 2000) 2 3 4 58
  2. A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. (PMID: 19762328) Posch MG … Ozcelik C (Journal of medical genetics 2010) 3 4 58
  3. T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease. (PMID: 18834961) Liu C … Li Z (European journal of medical genetics 2008) 3 44 58
  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 EP … Harvey RP (American journal of human genetics 2007) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for TBX20 Gene

Sources for TBX20 Gene

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