Version 5.4
Homo sapiens Gene: TBX20
Summary
InnateDB Gene IDBG-12323.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TBX20
Gene Name T-box 20
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000164532
Encoded Proteins
IDBP-294309
T-box 20
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:35202430-35254147
Strand Reverse strand
Band p14.2
Transcripts
ENST00000408931 ENSP00000386170
ENST00000492961
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001085 RNA polymerase II transcription factor binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0001105 RNA polymerase II transcription coactivator activity
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001569 patterning of blood vessels
GO:0001706 endoderm formation
GO:0001764 neuron migration
GO:0001947 heart looping
GO:0003143 embryonic heart tube morphogenesis
GO:0003148 outflow tract septum morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0003175 tricuspid valve development
GO:0003176 aortic valve development
GO:0003180 aortic valve morphogenesis
GO:0003193 pulmonary valve formation
GO:0003203 endocardial cushion morphogenesis
GO:0003207 cardiac chamber formation
GO:0003215 cardiac right ventricle morphogenesis
GO:0003272 endocardial cushion formation
GO:0003279 cardiac septum development
GO:0003344 pericardium morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006936 muscle contraction
GO:0008015 blood circulation
GO:0008283 cell proliferation
GO:0009953 dorsal/ventral pattern formation
GO:0010991 negative regulation of SMAD protein complex assembly
GO:0021524 visceral motor neuron differentiation
GO:0035050 embryonic heart tube development
GO:0035922 foramen ovale closure
GO:0036306 embryonic heart tube elongation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048370 lateral mesoderm formation
GO:0055008 cardiac muscle tissue morphogenesis
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060413 atrial septum morphogenesis
GO:0060577 pulmonary vein morphogenesis
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031965
View Gene Order
ENSBTAG00000017541
Not yet available
Cross-References
SwissProt Q9UMR3
TrEMBL C1INI1 C1INI2 C1INI3 C1INI4 C1INI5 C1INI6
UniProt Splice Variant
Entrez Gene 57057
UniGene Hs.404167
RefSeq NM_001077653 NM_001166220
HUGO HGNC:11598
OMIM 606061
CCDS CCDS43568
HPRD 06931
IMGT
EMBL AC005826 AC006379 AC009531 AJ237589 BC120945 BC120946 CH236951 DQ986374 EU636780 EU636781 EU636782 EU636783 EU636784 EU636785 HM015599
GenPept AAD21787 AAI20946 AAI20947 ABJ15760 ACF40134 ACF40135 ACF40136 ACF40137 ACF40138 ACF40139 ADL14520 CAB51916 EAL23971
RNA Seq Atlas 57057

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca