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 ca... See more...

Aliases for TBX20 Gene

Aliases for TBX20 Gene

  • T-Box Transcription Factor 20 2 3 5
  • T-Box Transcription Factor TBX20 3 4
  • T-Box Protein 20 3 4
  • T-Box 20 2 3
  • TBX20 5
  • 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 Transcription Factor 20) is a Protein Coding gene. Diseases associated with TBX20 include Atrial Septal Defect 4 and Hypoplastic Left Heart Syndrome. 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 TBX18.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for TBX20 Gene

Genomics for TBX20 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH07J035248 Promoter/Enhancer 1.8 VISTA EPDnew Ensembl ENCODE dbSUPER 606 +0.5 544 10.1 ZNF692 PRDM1 ZIC2 POLR2A ZNF501 EZH2 ELF4 ZNF600 ZNF341 ZNF561 TBX20 DPY19L1 ENSG00000226063 RF00017-6115 piR-43105-602
GH07J035246 Enhancer 0.4 FANTOM5 Ensembl 9.8 +7.9 7897 0.4 TBX20 RF00017-6115 piR-43105-602 DPY19L1
GH07J035222 Enhancer 0.3 dbSUPER 12.2 +30.9 30939 1.6 ZNF687 TBX20 piR-43105-602 RF00017-6115 DPY19L1
GH07J035241 Enhancer 0.6 Ensembl dbSUPER 5.7 +12.0 11950 0.5 CTCF RAD21 TRIM22 DPY19L1 TBX20 piR-43105-602 RF00017-6115
GH07J035259 Enhancer 0.5 dbSUPER 5.9 -7.2 -7203 2.7 KDM1A EZH2 CTCF USF1 YY1 ENSG00000226063 TBX20 RF00017-6115 HERPUD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBX20 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBX20

Top Transcription factor binding sites by QIAGEN in the TBX20 gene promoter:
  • AREB6
  • ATF6
  • GATA-2
  • Nkx2-5
  • POU2F1
  • SRF
  • SRF (504 AA)

Genomic Locations for TBX20 Gene

Genomic Locations for TBX20 Gene
chr7:35,199,936-35,254,100
(GRCh38/hg38)
Size:
54,165 bases
Orientation:
Minus strand
chr7:35,242,042-35,293,758
(GRCh37/hg19)
Size:
51,717 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; 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

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

Protein Domains for TBX20 Gene

InterPro:
Blocks:
  • Transcription factor, T-box
ProtoNet:

Suggested Antigen Peptide Sequences for TBX20 Gene

GenScript: Design optimal peptide antigens:
  • T-box transcription factor TBX20 (C1INH8_HUMAN)
  • T-box transcription factor TBX20 (C1INH9_HUMAN)
  • T-box transcription factor TBX20 (C1INI0_HUMAN)
  • T-box transcription factor TBX20 (C1INI1_HUMAN)
  • T-box transcription factor TBX20 (C1INI2_HUMAN)
genes like me logo Genes that share domains with TBX20: view

No data available for Graphical View of Domain Structure and 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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA,ISM 19274049
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:

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX20

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
cytoskeleton 2
mitochondrion 2
cytosol 2
plasma membrane 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TBX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,ISS --
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

PathCards logo

SuperPathways 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 IEA,ISS --
GO:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0001570 vasculogenesis IBA 21873635
GO:0001706 endoderm formation ISS --
GO:0001708 cell fate specification IBA 21873635
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 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBX20

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

No ASD Table

Relevant External Links for TBX20 Gene

GeneLoc Exon Structure for
TBX20

Expression for TBX20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for TBX20 Gene



Protein tissue co-expression partners for TBX20 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBX20

SOURCE GeneReport for Unigene cluster for TBX20 Gene:

Hs.404167

Evidence on tissue expression from TISSUES for TBX20 Gene

  • Eye(4.2)
  • Heart(3.7)
  • Muscle(3.1)
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 30 31
  • 99.63 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TBX20 31
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TBX20 30 31
  • 91.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TBX20 30 31
  • 91.72 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TBX20 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Tbx20 30 17 31
  • 89.21 (n)
OneToOne
Chicken
(Gallus gallus)
Aves TBX20 30 31
  • 82.5 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TBX20 31
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tbx20 30
  • 78.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia tbx20-A 30
Zebrafish
(Danio rerio)
Actinopterygii tbx20 30 31
  • 73.62 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta org-1 32
  • 64 (a)
CG6634 32
  • 61 (a)
nmr 32
  • 59 (a)
Doc3 32
  • 55 (a)
Doc1 32
  • 54 (a)
Doc2 32
  • 51 (a)
mid 31
  • 34 (a)
OneToMany
H15 31
  • 30 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mab-9 31 32
  • 44 (a)
OneToOne
Species where no ortholog for TBX20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TBX20: view image

Paralogs for TBX20 Gene

(11) SIMAP similar genes for TBX20 Gene using alignment to 11 proteins:

  • TBX20_HUMAN
  • C1INH8_HUMAN
  • C1INH9_HUMAN
  • C1INI0_HUMAN
  • C1INI1_HUMAN
  • C1INI2_HUMAN
  • C1INI3_HUMAN
  • C1INI4_HUMAN
  • C1INI5_HUMAN
  • C1INI6_HUMAN
  • C3RYR1_HUMAN

Pseudogenes.org Pseudogenes for TBX20 Gene

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

Variants for TBX20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBX20 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
691821 Uncertain Significance: Primary dilated cardiomyopathy 35,250,123(-) C/T MISSENSE_VARIANT
691824 Uncertain Significance: Primary dilated cardiomyopathy 35,204,479(-) G/A MISSENSE_VARIANT
762597 Likely Benign: not provided 35,240,897(-) A/G SYNONYMOUS_VARIANT
802304 Uncertain Significance: Atrial septal defect 4 35,245,065(-) A/T INTRON_VARIANT
rs1057524359 Uncertain Significance: not provided 35,244,971(-) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TBX20 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TBX20 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
atrial septal defect 4
  • asd4
hypoplastic left heart syndrome
  • hlhs
hypoplastic right heart syndrome
  • right hypoplastic heart syndrome
wolff-parkinson-white syndrome
  • wpw syndrome
patent foramen ovale
  • atrial septal defect within oval fossa
- 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
Open Targets Platform
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
  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
  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 41
  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
  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

Products for TBX20 Gene

  • Signalway Proteins for TBX20

Sources for TBX20 Gene