InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TBX20

Summary

InnateDB Protein

IDBP-294309.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TBX20

Protein Name

T-box 20

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000386170

InnateDB Gene

IDBG-12323 (TBX20)

Protein Structure

UniProt Annotation

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. {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00201}.

Disease Associations

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:0000269PubMed:17668378}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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