InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TBX5

Summary

InnateDB Protein

IDBP-58951.6

Last Modified

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

Gene Symbol

TBX5

Protein Name

T-box 5

Synonyms

HOS;

Species

Homo sapiens

Ensembl Protein

ENSP00000309913

InnateDB Gene

IDBG-58949 (TBX5)

Protein Structure

UniProt Annotation

Function

Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.

Subcellular Localization

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

Disease Associations

Holt-Oram syndrome (HOS) [MIM:142900]: Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. {ECO:0000269PubMed:10077612, ECO:0000269PubMed:10842287, ECO:0000269PubMed:8988165}. 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 12 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [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:0001228	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0002009	morphogenesis of an epithelium
GO:0003166	bundle of His development
GO:0003181	atrioventricular valve morphogenesis
GO:0003197	endocardial cushion development
GO:0003218	cardiac left ventricle formation
GO:0003229	ventricular cardiac muscle tissue development
GO:0003281	ventricular septum development
GO:0003283	atrial septum development
GO:0006355	regulation of transcription, DNA-templated
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0007267	cell-cell signaling
GO:0007389	pattern specification process
GO:0007507	heart development
GO:0008285	negative regulation of cell proliferation
GO:0010467	gene expression
GO:0010719	negative regulation of epithelial to mesenchymal transition
GO:0030262	apoptotic nuclear changes
GO:0030324	lung development
GO:0030326	embryonic limb morphogenesis
GO:0030336	negative regulation of cell migration
GO:0035115	embryonic forelimb morphogenesis
GO:0035136	forelimb morphogenesis
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0051891	positive regulation of cardioblast differentiation
GO:0055007	cardiac muscle cell differentiation
GO:0060039	pericardium development
GO:0060044	negative regulation of cardiac muscle cell proliferation
GO:0060045	positive regulation of cardiac muscle cell proliferation
GO:0060413	atrial septum morphogenesis
GO:0060980	cell migration involved in coronary vasculogenesis
GO:0072513	positive regulation of secondary heart field cardioblast proliferation
GO:1900117	regulation of execution phase of apoptosis